Paroxysmal dyskinesias …

Mariam Hull MD

Movement Disorders

Updated 12.27.2023
Released 12.29.1993
Expires For CME 12.27.2026

Paroxysmal dyskinesias

Author: Mariam Hull MD

See Contributor Disclosures

Editor: Robert Fekete MD

Paroxysmal dyskinesias

In This Article

Quick Link

Introduction

Overview

Paroxysmal dyskinesias are a relatively rare subset of hyperkinetic movement disorders that are defined by their episodic nature. They may be categorized into paroxysmal kinesigenic dyskinesia, paroxysmal nonkinesigenic dyskinesia, and paroxysmal exertion-induced dyskinesia. Advances in the genetic causes of paroxysmal dyskinesias, particularly in the familial forms, have allowed further studies of phenotype-genotype correlation. Paroxysmal dyskinesias can also occur secondarily in the setting of other neurologic or systemic diseases. Psychogenic movement disorders, which may also be paroxysmal and abrupt in onset, should be considered in the differential diagnosis of paroxysmal dyskinesias. In this article, the authors review the expanding genetic advances and clinical characteristics of these disorders. Treatment strategies are reviewed.

Key points

	• Paroxysmal dyskinesias may be categorized into paroxysmal kinesigenic dyskinesia, paroxysmal nonkinesigenic dyskinesia, and paroxysmal exertion-induced dyskinesia.
	• Paroxysmal dyskinesias may be sporadic, genetic, or caused by metabolic or structural etiologies.
	• Another common cause of paroxysmal dyskinesias is psychogenic movement disorders.
	• Paroxysmal kinesigenic dyskinesia typically responds well to antiepileptic medications.
	• Mutations in PRRT2 are associated with several childhood-onset episodic syndromes including paroxysmal kinesigenic dyskinesia, infantile convulsions, paroxysmal kinesigenic dyskinesia or infantile convulsions, and hemiplegic migraine.
	• ADCY5 mutations are being increasingly recognized as a cause of paroxysmal dyskinesias.

Historical note and terminology

Paroxysmal dyskinesias are a relatively rare subset of hyperkinetic movement disorders that are defined by their episodic nature. Mount and Reback were the first to use the term "paroxysmal choreoathetosis" (142). They reported a familial form of intermittent, periodic dystonia and chorea in which the proband had infantile-onset prolonged dyskinesia induced by alcohol and other agents. The episodes were characterized by an aura of a tight sensation in the neck and abdomen and a sense of fatigue followed by involuntary flexion of the arms and extension of the legs (dystonia). The spells progressed to involuntary choreoathetosis and dysarthria despite normal consciousness. Mount and Reback called the condition "familial paroxysmal choreoathetosis." Kertesz described a group of patients who primarily had a childhood onset of movement-induced paroxysmal choreoathetosis (97). He highlighted the kinesigenic component and coined the term "paroxysmal kinesigenic choreoathetosis" as a specific entity within the paroxysmal choreoathetosis syndrome. A striking feature of the kinesigenic form was the brief (seconds to minutes) duration of the episode, whereas the nonkinesigenic form was said to be longer lasting (minutes to hours). Richards and Barnett coined the term “paroxysmal dystonic choreoathetosis of Mount and Reback” to help delineate it from the more common paroxysmal kinesigenic choreoathetosis (160). Lance reported a family with intermediate-duration attacks that were precipitated by prolonged exercise (109). Lance’s kindred also pointed out a common feature of the nonkinesigenic phenotype that is distinctive from the kinesigenic: failure to respond to anticonvulsants other than benzodiazepines. Lance comprehensively summarized the various forms of paroxysmal movement disorders that were often labeled as paroxysmal kinesigenic choreoathetosis, including (familial) paroxysmal choreoathetosis, periodic dystonia, reflex epilepsy, movement-induced seizures, conditionally responsive extrapyramidal syndrome, and hereditary kinesthetic reflex epilepsy. For a more detailed review of the history, see the review by Fahn (56).

Clinical manifestations

Presentation and course

The clinical manifestations are variable. The attacks are often not witnessed because of their brief duration. The earlier classifications were inaccurate because they used terms like "paroxysmal choreoathetosis" or "paroxysmal dystonic choreoathetosis," implying that in all attacks movements are easily characterized. However, the type of dyskinesia observed is extremely variable. Furthermore, the duration of episodes is not a reliable characteristic for differentiating between paroxysmal kinesigenic choreoathetosis and paroxysmal dystonic choreoathetosis of Mount and Reback. Demirkiran and Jankovic proposed that a classification scheme should be based primarily on the precipitating events, arguing that the precipitant is the best predictor of clinical course and response to specific medications (46; 134; 52; 71; 208). For example, kinesigenic dyskinesias are far more responsive to nonbenzodiazepine anticonvulsants than are nonkinesigenic, regardless of duration of spell or etiology. They proposed the following classification of paroxysmal dyskinesias: kinesigenic, nonkinesigenic, exertion induced, and hypnogenic (aka, paroxysmal nocturnal dystonia of sleep). Paroxysmal hypnogenic dyskinesia, however, may in fact be a form of nocturnal frontal lobe epilepsy (198) and, thus, is outside the scope of this discussion. Secondary categorization is based on duration; short is less than or equal to 5 minutes, and long is greater than 5 minutes. The tertiary classification is based on etiology: idiopathic (familial vs. sporadic) and secondary.

Table 1. Classification According to Clinical (Axis I) and Genetic (Axis II) Characteristics

Axis I: Clinical characteristics
A. Inclusion criteria (1 plus one of 2a, b, or c)
	1. Paroxysmal attacks of dystonia, chorea, ballism (or a mixture of those) with sudden onset and variable duration (seconds to hours). 2. Paroxysmal dyskinesia are categorized according to the “trigger factor” into one of the following:
		a. Paroxysmal kinesigenic dyskinesia: attacks are triggered by sudden movements, acceleration, or intention to move
		b. Paroxysmal non-kinesigenic dyskinesia: attacks are triggered by coffee, alcohol, and other non-kinesigenic precipitants
		c. Paroxysmal exercise-induced dyskinesia: attacks are triggered by prolonged exercise
B. Exclusion criteria (both 1 and 2)
	1. Symptoms are due to another neurologic condition 2. Symptoms are psychogenic
Axis II: Genetic characteristics
A. Mutations confirmed in one of the known genes (ie, PRRT2, MR-1, KCNMA1, SLC2A1)
B. No mutations in one of the known genes, or genetic testing has not been performed (undetermined forms)
(110)

Paroxysmal kinesigenic dyskinesia. This condition is often inherited in an autosomal dominant fashion, but a quarter of the cases are sporadic.

Dystonia (paroxysmal kinesigenic dystonia) with facial and hemidystonia triggered by exercise

This young woman is normal except when performing jumping jacks or similar exercises, which precipitate transient facial and right hemidystonia, characteristic of paroxysmal kinesigenic dystonia. (Contributed by Dr. Joseph Jankovi...
Paroxysmal kinesigenic dystonia with axial extension

This young man is normal except when he suddenly stands, which precipitates dystonic extension of the trunk and dystonic posturing of the arms (right greater than left) lasting only seconds. (Contributed by Dr. Mariam Hull.)

Males are affected more often than females (male:female=4:1) (77; 124; 193). In a review of confirmed PRRT gene-positive cases, the majority had an age of onset before 18 years (range 1 to 40 years) (53). The attacks are typically precipitated by the patient being startled or making a sudden movement after a period of rest. They may occur when running. Other less commonly reported triggers include anxiety, startle, intention to move, acceleration, coffee intake, and sleep deprivation (53). A sensory aura may precede the attack, and in some cases, it may be used as a warning sign to prevent the attack (32; 53). Dystonia and chorea are the most common phenomenologies (190). The extremities are most often affected (171; 124). During a refractory period after an attack, sudden movement may not provoke an attack. The attacks occur frequently—up to 100 per day. The duration is short, usually a few seconds to a few minutes. However, longer-lasting attacks may occur rarely (46). In an analysis of 121 patients referred for genetic study of paroxysmal kinesigenic dyskinesia, 79% were found to have a homogeneous phenotype (23). The phenotype consisted of (1) identified trigger for the attacks (sudden movements), (2) short duration of attacks (less than 1 minute), (3) lack of loss of consciousness or pain during attacks, (4) antiepileptic drug responsiveness, and (5) age at onset between 1 and 20 years. Patients may only have an abnormal sensation in the limbs involved, or the sensation may precede motor manifestation. The attacks may be limited to one side of the body or even one limb, although more often there is a tendency for generalization (53). The attacks decrease in frequency during adulthood (97; 124). The patients typically respond well to anticonvulsants. Patients may manifest co-existent epilepsy, infantile convulsions, migraine, or other neurologic symptoms, which is also noted in overlap syndromes.

Two sporadic patients with interictal myoclonus and paroxysmal kinesigenic dyskinesia have been reported, with both cases responding to antiepileptic medication (39). Two further cases of myoclonus and paroxysmal dyskinesias have been described, with myoclonus and dystonia occurring between attacks (44). One individual displayed paroxysmal kinesigenic dyskinesia, whilst the other had paroxysmal exercise-induced dystonia. A patient with features of both paroxysmal kinesigenic dyskinesia and paroxysmal exertion-induced dyskinesia has also been described (155). Focal laryngopharyngeal paroxysmal kinesigenic dyskinesia presenting as dysphagia and chronic cough has been described, with good response to carbamazepine (105).

Paroxysmal nonkinesigenic dyskinesia. This is usually inherited as an autosomal dominant trait. Incomplete penetrance and intrafamilial variability have been described (154). The attacks occur more often in males (male:female=2:1). The mean age of onset is 5 years, but attacks may not start until the early 20s. The frequency varies from three per day to two per year, although the majority of patients experience at least one attack per week. The usual precipitating factors are fatigue, alcohol, caffeine, and emotional excitement. Other less commonly reported triggers include fever, menstruation, and change in temperature. The attack may start with involuntary movements of one limb but may spread to involve all extremities and the face. The usual duration is minutes to 3 to 4 hours. During the attack, the patient may be unable to communicate due to speech impairment from oral dyskinesia or tongue dystonia. The typical phenomenology consists of chorea, dystonia, or a combination of chorea, dystonia, or ballism (53). The attacks are relieved by sleep and sometimes respond to pharmacologic intervention.

Identification of an association of paroxysmal nonkinesigenic dyskinesia with mutation in the myofibrillogenesis regulator 1 (MR-1) gene has provided more precise specification of the phenotype associated with this mutation (24). Patients with MR-1 mutations had: (1) onset in infancy or early childhood; (2) a mixture of chorea and dystonia in the limbs, face, and trunk; (3) typical attack duration between 10 minutes and 1 hour; (4) precipitation by caffeine, alcohol, or emotional stress; and (5) favorable response to benzodiazepines. Families without MR-1 mutations had more variable age at onset, precipitants, clinical features, and response to medications.

In a large Polish family with confirmed mutation in the MR-1 gene, the frequency and severity of the paroxysmal nonkinesigenic dyskinesia attacks increased with age in all male subjects (64). In addition, the female family member experienced complete disappearance of the attacks during pregnancy and a decrease in severity and frequency of the attacks after menopause. In a large MR-1 gene-positive Chinese family, symptom severity was variable across family members, ranging from mild clinical signs in some subjects to severe involvement affecting normal daily functioning (114). Response to benzodiazepines was also variable, with more than 20% of subjects exhibiting a poor response to medication.

Paroxysmal nonkinesigenic dyskinesia has been reported in a patient with familial ataxia (132), and in one family, paroxysmal nonkinesigenic dyskinesia was accompanied by myokymia (26). Some families also have exertional cramping, which may be a forme fruste of paroxysmal nonkinesigenic dyskinesia (106; 152) or may represent paroxysmal exertion-induced dyskinesia.

Paroxysmal exertion-induced dyskinesia. This is usually inherited in an autosomal dominant fashion although sporadic cases have been described (13). The attacks are triggered by prolonged exercise (109; 153). The frequency varies from one per day to two per month. The usual duration is 5 to 30 minutes. The clinical features may be indistinguishable from paroxysmal nonkinesigenic dyskinesia of long-lasting type, but legs are usually more affected. However, exercise limited to the upper extremities may provoke an attack in the upper extremities alone (153). The disorder may occur sporadically, and one reported patient had paroxysmal hemidystonia precipitated by prolonged running and cold (207). Another variant of paroxysmal exertion-induced dyskinesia is “runner’s dystonia” (218). This usually affects proximal lower limbs, although it may start in the feet, in long-distance runners and overlaps with other forms of focal dystonia, including relief with sensory or motor “tricks.” In some cases, it also overlaps with paroxysmal kinesigenic dyskinesia in that carbamazepine may markedly ameliorate the symptoms, although most patients require other forms of treatment, including repeat botulinum toxin injections. There is usually no family history of dystonia, and the leg dystonia tends to remain focal without spreading to other body parts. Some patients report prior injury to the affected leg, raising the possibility of peripherally induced dystonia.

Paroxysmal exertion-induced dyskinesia

This young man develops right hemidystonia after running, and it worsens as he continues to run. He was found to have a de novo pathogenic variant in SLC2A1. (Contributed by Dr. Mariam Hull.)

Prognosis and complications

Prognosis depends on the type of paroxysmal dyskinesia. Paroxysmal kinesigenic dyskinesia, even of prolonged duration, responds well to standard anticonvulsants, and the attacks tend to diminish during adulthood. Paroxysmal nonkinesigenic dyskinesia and paroxysmal exertion-induced dyskinesia have a variable prognosis. Even with repeated attacks, the neurologic function between the attacks is normal. In symptomatic dyskinesias, the prognosis depends on the underlying disease. In multiple sclerosis, the attacks tend to run a self-limited course even with continued disease activity.

Clinical vignette

A 16-year-old right-handed female complained of intermittent abnormal muscle contraction on her left side beginning about 8 months earlier. Typical episodes occurred after standing suddenly from a seated position. She experienced a sensation, lasting several seconds, of pulling in the left side of her face during which her mother noted facial distortion. Initially, the events were once daily involving the face with increasing intensity over several weeks. She then began to have episodes involving the entire left side with flexion of the elbow, wrist, and fingers, adduction of the shoulder, extension of the hip and knee, inversion of the ankle, and flexion and leftward rotation of the neck. The episodes typically lasted 5 to 10 seconds but occasionally persisted for a few minutes, occurring up to 60 times per day. The episodes were consistently triggered by volitional movements, particularly those with abrupt onset. Not all movements triggered episodes of involuntary movements. She could not elicit an episode on command or abort an episode once it began. There was no alteration of consciousness. There was no family history of movement disorders or seizures.

The general physical and neurologic exams were normal between spells. A 24-hour video EEG captured several spells. None of the spells had electrographic correlates, and the EEG was completely normal between spells. Treatment was begun with carbamazepine 100 mg twice daily (2.5 mg/kg per day). On that dose of carbamazepine, the spells decreased in frequency and duration by about 50%. The dose was eventually increased to 300 mg three times daily (10.75 mg/kg per day), with nearly complete resolution of the spells.

Biological basis

Etiology and pathogenesis

Paroxysmal kinesigenic dyskinesia, paroxysmal nonkinesigenic dyskinesia, and paroxysmal exertion-induced dyskinesia are genetic disorders that are usually inherited in an autosomal dominant fashion, or they may arise from a sporadic mutation. Autosomal recessive inheritance has also been described (119).

Genetics. Substantial progress has been made in genomic mapping of several of the paroxysmal dyskinesias.

Paroxysmal kinesigenic dyskinesia. The first gene to be associated with paroxysmal kinesigenic dyskinesia, proline-rich transmembrane protein 2 (PRRT2), is a primarily presynaptic protein involved in calcium-mediated neurotransmitter release through interaction with SNARE proteins synaptosomal-associated protein 25 kDa (SNAP25) and synaptotagmin 1/2 (202; 40). Thus, mutated PRRT2 results in loss of function of the protein, disrupting the SNARE function, which is manifested as a variety of paroxysmal neurologic disorders.

Previous linkage studies mapped the locus for paroxysmal kinesigenic dyskinesia, EKD1, to chromosome 16p11.2-q12.1 (99), where the PRRT2 gene was subsequently identified by whole exome sequencing and linkage analysis methods. A second locus, termed EKD2 has been mapped to chromosome 16q13-q22.1 in a large Indian family with paroxysmal kinesigenic dyskinesia (203). A third EKD locus has also been described (184). Linkage to the paroxysmal kinesigenic dyskinesia loci on chromosome 16 was excluded in a British family with paroxysmal kinesigenic dyskinesia without epilepsy.

Over 70 mutations have been described in PRRT2 (136; 119; 52; 89). Most are believed to be truncating mutations and are predicted to cause haploinsufficiency (81). The recurrent frameshift and disease-causing mutation c.649_650insC, p.R217Pfs*8 is the most common mutation found in most well-characterized paroxysmal kinesigenic dyskinesia or infantile convulsion families from diverse ethnic backgrounds (38; 70; 80; 112; 136; Steinlein and Korenke 2012). The mutation rate is higher in familial cases than in sporadic cases, with approximately 80 to 100% of familial cases being gene-positive, in contrast to 33 to 46% of sporadic cases (09; 78). In one study, penetrance was estimated to be 61% if only paroxysmal kinesigenic dyskinesia was considered but was almost complete when infantile convulsions were taken into account (see Overlap Syndromes) (204). Estimations of penetrance may be difficult due to the transient or very mild phenotype in some individuals (63; 204).

Studies on genotype-phenotype correlations suggest that a younger age of onset (224), longer duration of paroxysmal kinesigenic dyskinesia attacks, complicated paroxysmal kinesigenic dyskinesia, combined phenotypes of dystonia and chorea, a positive family history (89), bilateral involvement, a complete response to low-dose carbamazepine (113), and the presence of premonitory sensation (194) are correlated with the PRRT2 mutation.

Overlap syndromes. Benign familial infantile epilepsy is an autosomal-dominant self-limiting epilepsy syndrome, with onset at 3 to 12 months of age. The seizures are usually comprised of clusters of focal or convulsive attacks, with good response to antiepileptic therapy. Spontaneous resolution occurs by around 2 to 3 years of age. Mutations in PRRT2 have been identified in approximately 80% of benign familial infantile epilepsy families, indicating that they are the most common cause of this disorder (47; 82; 166; 169; 148). Benign familial infantile epilepsy mutations have also been identified in sporadic cases (185).

Febrile seizures, with or without afebrile seizures, have been observed in a few families with PRRT2 mutations, making the distinction between benign familial infantile epilepsy and febrile seizures, or febrile seizures plus, difficult. The co-occurrence of benign familial infantile epilepsy and childhood absence epilepsy has also been observed in one PRRT2-positive family (131). Infantile nonconvulsive seizures and nocturnal convulsions have also been reported rarely (119). Mutations in PRRT2 are not classically associated with other types of infantile epilepsy (166), although one case of infantile focal epilepsy with bilateral spikes has been described (199). Familial seizures with a more severe seizure course than that which is expected in benign familial infantile epilepsy, such as seizures continuing into childhood, episodes of status epilepticus, later onset seizures, and infantile epileptic encephalopathies, are not generally associated with PRRT2 mutations (83).

The syndrome of paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), otherwise known as infantile convulsions and paroxysmal choreoathetosis (ICCA syndrome), is an overlapping disorder consisting of features of paroxysmal kinesigenic dyskinesia in addition to the syndrome of benign familial infantile epilepsy (215; 161; 54). Paroxysmal kinesigenic dyskinesia often appears by early childhood, after the seizures have resolved. Both intrafamilial and interfamilial variability exists, and members of a PKD/IC family may manifest paroxysmal kinesigenic dyskinesia, infantile convulsions, or both (38). Mutations in PRRT2 have also been identified in more than 80% of families with PKD/IC (209; 82; 166) as well as apparently sporadic cases (112). Unaffected carriers are also observed.

The phenotypic spectrum of PRRT2 mutations also includes the association of hemiplegic migraine and other migraine types in PKD/IC families (38; 41; 70; 29), as well as pure hemiplegic migraine without paroxysmal kinesigenic dyskinesia (159), in cases that are negative for the migraine genes CACN1A, ATP1A2, SCN1A. A PRRT2 mutation was also found in a family with hemiplegic migraine and episodic ataxia (70) and another paroxysmal kinesigenic dyskinesia family where migraine with aura was the predominant phenotype (175). Other syndromes reportedly associated with PRRT2 mutations include paroxysmal torticollis (41), paroxysmal exertion-induced dyskinesia (118; 204), a nonkinesigenic paroxysmal dyskinesia-like phenotype (118; 180), and a family manifesting overlapping features of paroxysmal kinesigenic dyskinesia, paroxysmal exertion-induced dyskinesia, and nonkinesigenic paroxysmal dyskinesia (211). A more severe phenotype of benign familial infantile seizures/paroxysmal kinesigenic dyskinesia, with associated mental retardation, episodic ataxia, and absences, has been described in homozygous c.649dupC mutations in a consanguineous family (107). Intellectual delay was observed in a patient harboring a double mutation in PRRT2 (194).

Thus, PRRT2 mutations may manifest as several childhood-onset episodic syndromes, including pure paroxysmal kinesigenic dyskinesia, pure infantile convulsions, paroxysmal kinesigenic dyskinesia/infantile convulsions, and mixed paroxysmal kinesigenic dyskinesia/hemiplegic migraine (135). The same mutation may vary in age of onset (27). The mechanisms underlying the phenotypic heterogeneity of PRRT2 mutations are yet to be defined, although gene pleiotropy is a possibility (210).

A large sample study evaluating genetic etiologies of PRRT2-negative cases of paroxysmal kinesigenic dyskinesia identified 29 patients with variants in transmembrane protein 151 (TMEM151A). Patients with TMEM151A causing paroxysmal kinesigenic dyskinesia were more commonly sporadic in nature and were often later onset but otherwise shared the same clinical features (195).

Mutations in SCN8A have also been described in three unrelated families with benign familial infantile epilepsy or infantile convulsions and paroxysmal choreoathetosis (68; 69). A minority of the affected individuals also developed clinical features of paroxysmal kinesigenic dyskinesia, although these were associated with an ictal EEG correlate suggestive of cortical impairment.

Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer’s cramp has been described in three individuals from one consanguineous Sardinian family who experienced paroxysmal exertion-induced dyskinesia and partial seizures from 1 to 3 years of age. The patients developed writer’s cramp in late adolescence (79). Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer’s cramp has been found to share a locus on chromosome 16p12-q12 with paroxysmal kinesigenic dyskinesia, infantile convulsions and paroxysmal choreoathetosis, and benign familial infantile seizures/convulsions. It appears that individuals homozygous for the disease haplotype at chromosome 16p12-q12 may have earlier age of onset and higher frequency of attacks than heterozygous family members (45). A family with benign familial infantile seizures/convulsions-like phenotype without paroxysmal dyskinesia had suggestive linkage to chromosome 16 (213).

Two cases of paroxysmal kinesigenic dyskinesia have been associated with the SACS gene, which is responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) that is typically characterized by ataxia, peripheral neuropathy, and epilepsy (125).

Three cases of paroxysmal kinesigenic dyskinesia have been reported in homozygous variants in PDE2A with associated intellectual disability or developmental delay as well as epilepsy (49).

POLG is involved in DNA replication of the mitochondria, and disorders involving POLG include progressive external ophthalmoplegia, spinocerebellar ataxia, neuropathy, and epilepsy. A case of paroxysmal kinesigenic dyskinesia and associated spasmodic torticollis was reported; however, the patient also carried a missense variant in PLA2G6, which was described as unlikely to be pathogenic (227).

Other genetic causes of paroxysmal kinesigenic dyskinesia include SLC2A1, PNKD, DEPDC5, KCNMA1, and KCNA1 (88; 110).

Paroxysmal nonkinesigenic dyskinesia. Paroxysmal nonkinesigenic dyskinesia (Mount and Reback type) has been associated with missense mutations in the PNKD gene, previously referred to as the myofibrillogenesis regulator gene (MR-1), on chromosome 2q33-35 (111; 158). The most common mutation is p.Ala7Val, followed by p.Ala9Val mutation (220). Most reported families are of European ancestry, although families from other ethnicities have also been described. The gene is transcribed into three alternatively spliced forms: long (MR-1L), medium (MR-1M), and small (MR-1S). A third mutation described in the N-terminal region is common to MR-1L and MR-1S, the region that also carries the other previously reported mutations (75). Although the precise function of the gene product is unknown, it appears to share homology with the family of glyoxalases that function in the glutathione-dependent metabolic pathway (111). Further cellular and animal studies suggest a role for the protein in maintaining cellular redox status, with mutations in the gene resulting in altered protein cleavage and stability (176). In a Canadian family of European descent, a second locus for paroxysmal nonkinesigenic dyskinesia was described, which was linked to a distinct region on chromosome 2q31 (183); the underlying gene has not been identified. Caffeine and alcohol did not trigger episodes of paroxysmal nonkinesigenic dyskinesia in this family.

A case of paroxysmal nonkinesigenic dyskinesia triggered by intense crying has been described in a child with disruption in the fibroblast growth factor 14 gene (FGF14), consistent with spinocerebellar ataxia type 27 (SCA27) (178).

An autosomal dominant syndrome of generalized epilepsy and paroxysmal nonkinesigenic dyskinesia has been associated with mutations in the KCNMA1 gene, located on chromosome 10q22 in the alpha subunit of the large conductance calcium-sensitive potassium (BK) channel (50). This mutation is associated with increased neuronal excitability by causing rapid repolarization of action potentials. The onset of paroxysmal nonkinesiogenic dyskinesia in affected individuals ranges from infancy to adolescence. Developmental delay, cerebellar atrophy, and corticospinal tract atrophy have been reported in some individuals, whereas epilepsy may be absent (226; 221).

A case of paroxysmal nonkinesigenic dyskinesia was described in monozygotic twins with an ATP1A3 mutation (typically associated with rapid onset dystonia-parkinsonism and alternating hemiplegia of childhood). Episodes were characterized by painful abnormal postures, first occurring in infancy, lasting from minutes to hours, occurring up to 20 times per week, with triggers including weather changes, mood swings, caffeine intake, exercise, fever, and infections. Interestingly, these patients showed a dramatic response to levodopa (228).

Paroxysmal exertion-induced dyskinesia. Mutations in SLC2A1, which encode glucose transporter 1 (GLUT1), were identified by whole-genome linkage analysis in a 5-generation family and three unrelated nuclear families with co-occurrence of paroxysmal exertion-induced dyskinesia and epilepsy (189; 104). Among the 25 individuals carrying a SLC2A1 mutation, 19 (76%) had a history of paroxysmal exertion-induced dyskinesia, and 14 (56%) had a history of epilepsy. A history of both paroxysmal exertion-induced dyskinesia and epilepsy was present in 11 individuals (44%). In a parallel investigation, a causative deletion in the pore region of GLUT1 was identified using a candidate gene approach in a family with paroxysmal exertion-induced dyskinesia associated with epilepsy, mild developmental delay, and hemolytic anemia with echinocytosis (216). Two novel mutations have also been identified in the GLUT1 gene in sporadic paroxysmal exertion-induced dyskinesia (168). One of the patients also suffered from hemiplegic migraine and had a history of seizures during childhood. A novel missense mutation was reported in two monochorionic twins with paroxysmal exertion-induced dyskinesia, migraine, absence seizures, and writer's cramp (201). The clinical phenotype of GLUT1 deficiency may be mild in some cases. Paroxysmal exertion-induced dyskinesia associated with mild epilepsy of adolescent/adult onset has been reported (02). In this family, seizures consistent with idiopathic generalized epilepsy were observed. In addition, a case of mild paroxysmal exertion-induced dyskinesia and self-limiting partial epilepsy has been described in the setting of a novel de novo heterozygous SLC2A1 mutation (19).

GTP-cyclohydrolase 1 deficiency has also been identified as a cause of autosomal dominant paroxysmal exertion-induced dyskinesia (42). Family members had a history of restless legs syndrome, depression, and adult-onset parkinsonism. Levodopa therapy was successful in controlling the paroxysmal exertion-induced dyskinesia and restless legs syndrome. Several cases of paroxysmal exercise-induced dystonia have also been described in pyruvate dehydrogenase deficiency involving various genes in the pyruvate dehydrogenase complex. Thiamine supplementation has shown some benefit in such cases (30; 61).

Autosomal dominant paroxysmal choreoathetosis/spasticity (DYT9), an exercise-induced dyskinesia that may be associated with spastic paraplegia, has been mapped to a 12 cM region on chromosome 1p in the vicinity of the potassium channel gene cluster (06). Further clinical re-evaluation and gene sequencing of this family revealed linkage to the SLC2A1 locus (214). Affected family members had paroxysmal, predominantly exercise-induced dyskinesia, and five of 18 individuals manifested spastic paraparesis. Other clinical features included mild gait ataxia, cognitive impairment, epileptic seizures, and migraine. Different SLC2A1 mutations were also identified in a monozygotic twin pair who presented with similar symptoms of paroxysmal choreoathetosis and progressive spastic paraparesis, suggesting that paroxysmal exertion-induced dyskinesia and slowly progressive spastic paraparesis may form part of the GLUT1 phenotypic spectrum.

Paroxysmal exertion-induced dyskinesia has also been described in association with biallelic variants of TBC1D24. This gene has also been associated with several neurologic conditions, including familial infantile myoclonic epilepsy, chronic encephalopathy, DOORS (deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures), hearing loss, and episodic ataxia. Paroxysmal exertion-induced dyskinesia has been reported to start in infancy with dystonic posturing triggered by exercise (115).

Paroxysmal exertion-induced dyskinesia in TBC1D24

After playing with his brother and running for extended periods, this child develops dystonic posturing of the left upper extremity. He was found to have biallelic variants in TBC1D24. (Contributed by Dr. Mariam Hull.)

Munchau and colleagues described a family with paroxysmal exercise-induced dystonia and migraine that was not linked to the paroxysmal dystonic nonkinesigenic dyskinesia locus on chromosome 2, the infantile convulsions and paroxysmal choreoathetosis locus in chromosome 6, or the familial hemiplegic migraine locus on chromosome 19 (143). A family with autosomal dominant paroxysmal exercise-induced dystonia, generalized epilepsy, developmental delay, and migraines has been described by Kamm and colleagues (93). In this family, the linkages to chromosome 2 and 16 were excluded, suggesting an unidentified underlying genetic basis.

ADCY5-associated paroxysmal dyskinesia. Mutations in ADCY5, the gene for adenylyl cyclase type 5, have been recognized as a cause for autosomal dominant paroxysmal dyskinesia. Interestingly, a mix of paroxysmal kinesigenic, nonkinesigenic, exertional, and nighttime dyskinesias can be seen within the same individual with these mutations. Paroxysmal dyskinesia usually occurs on a baseline of dystonia, chorea, myoclonus, or tremor (62; 206).

Secondary causes. In addition to idiopathic or genetic paroxysmal dyskinesias, there are many other causes of dyskinesias (90). These include multiple sclerosis, central and peripheral trauma, strokes, and infections. Secondary dyskinesias should be considered in all atypical cases, such as older age at onset, prolonged duration of attacks, and when there are associated interictal neurologic deficits. Identifiable causes of a secondary paroxysmal dyskinesia were found in 22% of patients in one study (15; 16).

Demyelinating disease. The most common cause of secondary paroxysmal kinesigenic dyskinesia and paroxysmal nonkinesigenic dyskinesia is demyelinating disease. In multiple sclerosis, this has been associated with lesions of the internal capsule, basal ganglia, and posterior periventricular white matter (65), though thalamic and cerebellar peduncle lesions have also been reported (133; 35). Tonic spasms, manifested as paroxysmal hemidystonia or “tonic seizures,” may be the presenting manifestation of multiple sclerosis or may occur in established disease (11). These attacks may be kinesigenic but are most consistently precipitated by hyperventilation and can be extremely painful. Attacks typically involve one side of the body with or without the face but may occur bilaterally. Each attack lasts from a few seconds to a few minutes, and multiple attacks may occur during the day. The attacks tend to subside spontaneously over many weeks despite continuing disease activity. Short-lasting (1- to 2-minute) attacks of paroxysmal nonkinesigenic dyskinesia have been reported due to a solitary cervical cord lesion that was presumed to be demyelinating (156). Paroxysmal hypnogenic dyskinesia has also been described in the setting of multiple sclerosis (92; 11).

Metabolic disorders. Paroxysmal kinesigenic dyskinesia has been reported with idiopathic hypoparathyroidism and pseudohypoparathyroidism (192; 181; 225). A patient with features of both paroxysmal kinesigenic dyskinesia and paroxysmal nonkinesigenic dyskinesia has been reported in association with familial idiopathic hypoparathyroidism (94). Paroxysmal dyskinesia may also occur due to pseudohypoparathyroidism (Dure and Mussel 1998; 225). Paroxysmal kinesigenic dyskinesia has been reported in a family with pseudohypoparathyroidism type 1b due to a 3-kilobase deletion on chromosome 20q13.3 (130). Basal ganglia calcifications may be seen in these cases. Another case of paroxysmal kinesigenic dyskinesia due to pseudohypoparathyroidism type 1b, with complete response to calcitriol and calcium carbonate, has also been described (197). Paroxysmal kinesigenic dyskinesia has been reported along with severe global mental retardation and thyroid hormone abnormalities as an X-linked condition due to mutations in the thyroid hormone transporter gene MCT8 (21). Paroxysmal dyskinesia and titubation were also described in an adolescent with acquired hypothyroidism (86). Nonketotic hyperglycemia may cause paroxysmal kinesigenic dyskinesia (37). Paroxysmal kinesigenic dyskinesia has been described in a patient with Wilson disease, with complete remission to oxcarbazepine (140). Rarely, paroxysmal nonkinesigenic dyskinesia may occur in inherited metabolic disorders, but it is usually accompanied by other clinical problems (55). Paroxysmal nonkinesigenic dyskinesia has been reported in a child with maple syrup urine disease (196). Paroxysmal nonkinesigenic dyskinesia also has been reported in hypoglycemia (217) and thyrotoxicosis (59). A sporadic case of paroxysmal nonkinesigenic dyskinesia due to recurrent hypoglycemia caused by an insulinoma has been described (43).

Head injury. Paroxysmal kinesigenic dyskinesia may occur after head trauma (74), and there may be a lag period of several months between the head injury and the involuntary movements (157). Head injury may also cause paroxysmal nonkinesigenic dyskinesia, and the attacks have been reported to occur as early as 20 minutes after injury (150). Posttraumatic paroxysmal exertion-induced dyskinesia has also been described (46; 116). There has been a report of paroxysmal hypnogenic dyskinesia occurring after trauma (14).

Cerebrovascular disease. With advanced neuroimaging, more cases of paroxysmal kinesigenic dyskinesia are being attributed to cerebral infarcts, including putaminal infarcts (137) and thalamic infarcts (28). It has also been reported in a patient with Moyamoya disease (76; 127; 129). Stimulus-sensitive and action-induced paroxysmal dyskinesia has been described in a patient with posterior thalamic infarct (144). Paroxysmal nonkinesigenic dyskinesia has been reported following a striatal infarct (182). A case of orthostatic paroxysmal dystonia has been described in a patient with significant cerebrovascular disease. The paroxysmal dystonia precipitated by suddenly assuming an upright posture was associated with decreased perfusion of the contralateral frontoparietal cortex (173). Transient ischemic attacks may sometimes present with paroxysmal nonkinesigenic dyskinesia (84), and these attacks may herald a major stroke. Paroxysmal dyskinesia has been reported after subthalamic nucleus infarction (67). Both paroxysmal kinesigenic dyskinesia and paroxysmal nonkinesigenic dyskinesia have also been reported in Moyamoya disease (76). A case of paroxysmal nonkinesigenic dyskinesia secondary to pallidal ischemia, specifically triggered by alcohol, has been described (212). Intermittent, episodic limb shaking and other involuntary movements have been described as part of transient ischemic attack associated with carotid occlusion (151).

Infection or inflammation. Both paroxysmal kinesigenic dyskinesia and paroxysmal nonkinesigenic dyskinesia have been described in a series of six HIV-1-seropositive patients in the absence of a known opportunistic infection. Histopathological studies from one of the paroxysmal nonkinesigenic dyskinesia patients revealed evidence of severe HIV encephalitis as well as loss of calbindin-positive neurons in the basal ganglia (141). Paroxysmal dyskinesia has been reported in association with subacute sclerosing panencephalitis (149). A case of kinesigenic dyskinesia and cramp-fasciculation syndrome has also been reported in the setting of voltage-gated potassium channel–complex protein antibody encephalitis (05).

Cerebral palsy. Paroxysmal kinesigenic dyskinesia has been described as a delayed manifestation after perinatal hypoxic encephalopathy (163). The age of onset was 12 years; the attacks were precipitated by being bumped from behind and not by a sudden movement. These were short-lasting (5 to 30 seconds) and occurred five to 20 times daily.

Miscellaneous conditions. Paroxysmal kinesigenic dyskinesia has been reported to occur in progressive supranuclear palsy (01) after methylphenidate therapy (73) and in a patient with primary CNS lymphoma (162). Paroxysmal kinesigenic dyskinesia has also been observed in an individual with neuroacanthocytosis, manifesting with mild chorea, weakness of the right lower extremity, and myoclonic jerks (200). Her attacks improved with carbamazepine. Paroxysmal kinesigenic dyskinesia associated with sporadic bilateral striopallidodentate calcinosis has been described (48; 34). Paroxysmal nonkinesigenic dyskinesia has been described in the setting of Fahr disease (139; 101; 03). Symmetrical intracranial calcifications were described in a report of a 4-generation family with paroxysmal nonkinesigenic dyskinesia; linkage to 14q (described in families with Fahr disease and neurologic symptoms) was excluded (219). Paroxysmal nonkinesigenic dyskinesia has also been reported in the setting of spinal cord infiltration from low-grade B-cell non-Hodgkin lymphoma (10). There is a report of paroxysmal hypnogenic dyskinesia due to orbitofrontal cortical dysplasia (121). A case of paroxysmal kinesigenic hemidystonia following peripheral trauma has been described, raising the possibility of a sporadic peripheral trauma-induced paroxysmal kinesigenic dyskinesia (33); this case responded to carbamazepine. Cortical reflex seizures have also reportedly presented as paroxysmal dyskinesia induced by weight (95). Sporadic paroxysmal exertion-induced dyskinesia of the hands has been described (36).

Paroxysmal dyskinesia is attributed to basal ganglia dysfunction, but conclusive evidence is lacking. Some view this group of disorders as a form of subcortical epilepsy because of overlapping features, including presence of an aura for many patients, the paroxysmal nature of events, remarkable responsiveness to anticonvulsants, normalization of neurologic exam between events, and familial association (167). Some patients have abnormal baseline EEGs consistent with seizures (77; 147). In an animal model of paroxysmal dystonia, predominant EEG changes are in caudate-putamen and globus pallidus with a significant decrease in the high-frequency beta2 range; there is a tendency to increase in delta and theta activities. These changes are seen both before and after onset of dystonic attacks, indicating a permanent disturbance of neural activities in the basal ganglia of dystonic animals. Thus, paroxysmal dyskinesias may reflect seizure-like discharge in the basal ganglia. A report with depth electrodes suggests that in some patients with paroxysmal kinesigenic dyskinesia, an electrical discharge from the medial frontal lobe spreads to the caudate nucleus (122).

Several reports support the idea of basal ganglia dysfunction in paroxysmal kinesigenic dyskinesia. Several cases of paroxysmal kinesigenic dyskinesia have been reported to respond to levodopa (123; 117). In five patients with paroxysmal kinesigenic dyskinesia, proton magnetic resonance spectroscopy revealed decreased basal ganglia choline levels in two patients and decreased myoinositol in one patient (100). In a case of paroxysmal kinesigenic dyskinesia, ictal SPECT revealed increased perfusion of the basal ganglia (103). Another report demonstrated ictal perfusion in the posterolateral thalamus in one case of paroxysmal kinesigenic dyskinesia (179), suggesting that abnormal activity is not limited to the basal ganglia. A study of 16 patients with idiopathic paroxysmal kinesigenic dyskinesia and 18 controls demonstrated significant interictal hypoperfusion in the posterior regions of the caudate nuclei bilaterally (91). A study using functional magnetic resonance imaging demonstrated increased amplitude of low-frequency fluctuation in the right postcentral gyrus in patients harboring the p.P217fsX7 mutation, compared to nonmutation carriers (126).

Several reports implicate the basal ganglia in paroxysmal nonkinesigenic dyskinesia. PET scanning revealed abnormalities in the basal ganglia metabolism of a patient with posttraumatic paroxysmal dystonia (150). One patient with paroxysmal nonkinesigenic dyskinesia showed decreased [18]FDOPA uptake and increased [11]C raclopride binding in the striatum but no metabolic abnormalities with [18]FDG PET (122). However, another family with paroxysmal nonkinesigenic dyskinesia was shown not to have abnormalities of striatal dopamine innervation (17). Invasive electrophysiology showed no cortical discharges associated with the paroxysmal nonkinesigenic dyskinesia but showed an abnormal discharge in the caudate nucleus. In a mutant hamster model of paroxysmal dystonia, pharmacological modulation of the GABAergic function affected the dystonia (60). The support for the GABAergic mechanisms also comes from an increase in the GABAA/benzodiazepine receptor-chloride ionophore complex in an animal model of paroxysmal dystonia (145).

In two patients with paroxysmal exertion-induced dyskinesia, SPECT scanning revealed decreased ictal perfusion of the frontal cortex during the motor attacks. In contrast, increased cerebellar perfusion was observed. The perfusion of the basal ganglia also decreased (102). No cortical hyperperfusion indicative of an epileptic nature was seen. Cerebellar hyperactivity in connection with prominent frontal hypoactivity has also been described in both the idiopathic and the symptomatic forms of dystonia. In contrast, a case report using subtraction SPECT imaging in a 16-year-old with paroxysmal exertion-induced dyskinesia revealed significantly increased cerebral perfusion in the medial aspect of the postcentral gyrus during an attack of foot dystonia (223). There was also mildly increased perfusion in the primary motor area and cerebellum during the episode. In a study of a number of families with co-occurrence of paroxysmal exertion-induced dyskinesia and epilepsy, there was a positive correlation between relative FDG uptake and the paroxysmal exertion-induced dyskinesia frequency score at the time of PET scanning in the left putamen (189). A negative correlation was observed in the left superior frontal cortex and left anterior cingulate cortex extending to the right side. In addition, when a patient had more frequent paroxysmal exertion-induced dyskinesias, the frontal lobe hypometabolism was more pronounced, as was the relative hypermetabolism in the putamen.

As already alluded to, paroxysmal hypnagogic dystonia, especially of short duration, represents a form of frontal lobe epilepsy in most cases.

Paroxysmal hemidystonia in demyelinating disease may reflect ephaptic transmission in the plaques. The site of the ephaptic transmission may occur at different levels of the neuraxis, including the midbrain and the thalamus (25; 170), the medulla (72), and the spinal cord (177). In one patient with paroxysmal dyskinesias in HIV-associated dementia, the autopsy showed diffused astrogliosis in the basal ganglia and the thalamus (141).

Paroxysmal nonkinesigenic dyskinesia has been reported in association with familial ataxia (132). Paroxysmal ataxias have been classified into two categories. Episodic ataxia type 1 is associated with interictal facial and hand myokymia and has been determined to be due to a missense point mutation in the potassium channel gene, KCNA1, on chromosome 12P (22). Episodic ataxia type 2 is associated with interictal nystagmus and has been assigned a gene locus on chromosome 12p (205). These observations, in addition to the linkage of paroxysmal choreoathetosis/spasticity to the vicinity of a potassium channel gene cluster on chromosome 1 (06), and the report of a family with paroxysmal dyskinesia and facial myokymia (58), suggest that at least some of the paroxysmal dyskinesias may be channelopathies (05). At least eight different types of episodic ataxias have been characterized, and most are considered forms of channelopathies (174; 164).

There are only two autopsy reports for paroxysmal kinesigenic dyskinesia. In one patient, there was only a slight asymmetry of the substantia nigra (187), and the other showed some melanin pigment in macrophages of locus coeruleus, suggestive of neuronal loss (97).

Differential diagnosis

Confusing conditions

Paroxysmal dystonias need to be differentiated from psychogenic movement disorders (20; 46). Indeed, an abrupt onset or paroxysmal component is one of the most important clinical presentations of psychogenic movement disorders (07). The distinction between psychogenic paroxysmal movement disorders and primary paroxysmal dyskinesias can be difficult. In a series of 26 patients with psychogenic paroxysmal movement disorders, red flags proposed for suspecting a psychogenic paroxysmal movement disorder included an adult age of onset, paroxysmal tremor as the predominant clinical feature, high phenomenological variability between episodes, the precipitation of an attack or an increase in symptoms severity during examination, an atypical and variable duration of attacks, the presence of multiple atypical triggers, an altered level of responsiveness, the presence of odd precipitating factors, the presence of unusual relieving maneuvers, additional psychogenic physical signs or medically unexplained somatic symptoms, and an atypical response to medication (66). A coexistent organic movement disorder was present in 19% of cases, highlighting the fact that “functional overlay” may complicate pre-existing organic symptoms. The prevalence of psychogenic paroxysmal dyskinesias is unclear.

Paroxysmal dyskinesias should also be differentiated from dopa-responsive dystonia, seizures, pseudoseizures, and tics. Complicating matters, both seizures (as described above) and tics have been described with paroxysmal dyskinesias (08; 222). Hypnogenic paroxysmal dyskinesia, owing to a seizure disorder, may be misdiagnosed as a benign nocturnal parasomnia (165; 12). Dopa-responsive dystonia usually presents in childhood and may have marked diurnal fluctuations, with the patient improving with rest and worsening with exercise (146). However, discrete paroxysms do not occur. Seizures arising from the supplemental motor area may resemble dyskinesias and sometimes may be precipitated by movement (57). The idiopathic paroxysmal dyskinesias have to be distinguished from symptomatic ones.

Management

Paroxysmal kinesigenic dyskinesia. This condition responds well to anticonvulsants. Response rates of up to 98.4% have been described with carbamazepine in individuals with PRRT2 mutations, with the majority achieving a complete response with low doses (50 to 100 mg daily) (89). Oxcarbazepine, in doses of 75 to 300 mg daily, has also been used with success (110). It is important to note that Stevens-Johnson syndrome and toxic epidermal necrolysis are serious side effects associated with carbamazepine and oxcarbazepine, with a higher risk in Asians, but also affecting non-Asians, with HLA-B*15:02 allele (98). Phenytoin may also be effective, and the dose required in adults is usually less than the standard anticonvulsant dosage (85). Other anticonvulsant medications have been used, including phenobarbital (77), levetiracetam (31), topiramate (87), and lacosamide (110). One case report of paroxysmal kinesigenic dyskinesia and cerebral palsy required high doses of phenytoin (400 mg/day) for symptom control (18). Improvement with caffeine has also been described in one case of paroxysmal kinesigenic dyskinesia associated with the PRRT2 mutation (108).

Paroxysmal nonkinesigenic dyskinesia. Response to treatment in paroxysmal nonkinesigenic dyskinesia is not as consistent as in paroxysmal kinesigenic dyskinesia. Avoidance of precipitating factors like alcohol, caffeine, and stress is important. Clonazepam is the mainstay of therapy for paroxysmal nonkinesigenic dyskinesia, and individuals with MR-1 mutations seem to have better responses to benzodiazepines than those without mutations in the MR-1 gene (188). Anticonvulsants appear to be ineffective in most cases. A number of other medications have also been used with inconsistent results, including haloperidol, alternate-day oxazepam, and anticholinergics (138). Improvement with levetiracetam was described in one family (191). Thalamic deep-brain stimulation has been reported to be beneficial in a patient with painful paroxysmal nonkinesigenic dystonia (120). Bilateral globus pallidus internus deep-brain stimulation was also successful in one patient with paroxysmal bilateral dystonia, who also had a background of mild mental retardation, impulse control difficulties, and bilateral choreiform movements (96).

Paroxysmal exertion-induced dyskinesia. Avoidance of prolonged exercise may help diminish the frequency of attacks. Drug therapy is often ineffective but there are isolated reports of improvement with levodopa (46; 117; 42) and acetazolamide (13; 04). Those with GLUT1 mutation may respond to ketogenic diet or a less restrictive modified Atkins diet (168). The ketogenic diet may also improve developmental delay in affected children (188).

Symptomatic paroxysmal dyskinesias. The paroxysmal dystonia associated with multiple sclerosis responds well to anticonvulsants. Acetazolamide is a useful alternative or adjunct to anticonvulsants (172). The choreoathetosis secondary to head injury may respond to anticonvulsants or a combination of anticonvulsants and trihexyphenidyl (150). The underlying abnormality needs to be addressed in metabolic cases, including treatment of hypoglycemia, hyperglycemia, and thyrotoxicosis. The paroxysmal kinesigenic dyskinesia associated with hypoparathyroidism may resolve with treatment of hypocalcemia by vitamin D. Vascular risk factors must be addressed where the paroxysmal dyskinesia is thought to be due to transient ischemic attacks.

Media

References

01: Adam A, Orinda D. Focal paroxysmal kinesigenic choreoathetosis preceding the development of Steele-Richardson-Olszewski syndrome. J Neurol Neurosurg Psychiatry 1986;49:957-9. PMID 3746331
02: Afawi Z, Suls A, Ekstein D, et al. Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. Epilepsia 2010;51(12):2466-9. PMID 21204808
03: Alemdar M, Selek A, Işeri P, Efendi H, Komsuoğlu SS. Fahr's disease presenting with paroxysmal non-kinesigenic dyskinesia: a case report. Parkinsonism Relat Disord 2008;14(1):69-71. PMID 17240186
04: Anheim M, Maillart E, Vuillaumier-Barrot S, et al. Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. J Neurol 2011;258(2):316-7. PMID 20830593
05: Aradillas E, Schwartzman RJ. Kinesigenic dyskinesia in a case of voltage-gated potassium channel-complex protein antibody encephalitis. Arch Neurol 2011;68(4):529-32. PMID 21149804
06: Auburger G, Ratzlaff T, Lunkes A, et al. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of potassium channel gene cluster on chromosome 1p, probably within 2cM between d1S443 and D1S197. Genomics 1996;31(1):90-4. PMID 8808284
07: Baik JS, Han SW, Park JH, Lee MS. Psychogenic paroxysmal dyskinesia: the role of placebo in the diagnosis and management. Mov Disord 2009;24(8):1244-5. PMID 19353684
08: Balint B, Wiethoff S, Martino D, et al. Quick flicks: association of paroxysmal kinesigenic dyskinesia and tics. Mov Disord Clin Pract 2018;5(3):317-20. PMID 29984260
09: Becker F, Schubert J, Striano P, et al. PRRT2-related disorders: further PKD and ICCA cases and review of the literature. J Neurol 2013;260(5):1234-44. PMID 23299620
10: Benz R, Viecelli A, Taverna C, Schelosky L. Paroxysmal non-kinesigenic dyskinesia due to spinal cord infiltration of low-grade B cell non-Hodgkin's lymphoma. Ann Hematol 2012;91(3):463-5. PMID 21626000
11: Berger JR, Sheramata WA, Melamed E. Paroxysmal dystonia as the initial manifestation of multiple sclerosis. Arch Neurol 1984;41:747-50. PMID 6743065
12: Bhatia KP. The paroxysmal dyskinesias. J Neurol 1999;246(3):149-55. PMID 10323309
13: Bhatia KP, Soland VL, Bhatt MH, Quinn NP, Marsden CD. Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature. Mov Disord 1997;12:1007-12. PMID 9399228
14: Biary N, Singh B, Bahou Y, Al Deeb SM, Sharif H. Posttraumatic paroxysmal nocturnal hemidystonia. Mov Disord 1994;9:98-9. PMID 8139612
15: Blakeley J, Jankovic J. Secondary causes of paroxysmal dyskinesia. Adv Neurol 2002a;89:401-20. PMID 11968464
16: Blakeley J, Jankovic J. Secondary paroxysmal dyskinesias. Mov Disord 2002b;17(4):726-34. PMID 12210862
17: Bohnen NI, Albin RL, Frey KA, Fink JK. (+)-alpha-[11C]Dihydrotetrabenazine PET imaging in familial paroxysmal dystonic choreoathetosis. Neurology 1999;52:1067-9. PMID 10102431
18: Bonakis A, Papageorgiou SG, Potagas C, Karahalios G, Kalfakis N. A case of refractory secondary paroxysmal kinesigenic dyskinesia with high sensitivity to phenytoin monotherapy. Parkinsonism Relat Disord 2009;15(1):68-70. PMID 18353702
19: Bovi T, Fasano A, Juergenson I, Gellera C, et al. Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype. Parkinsonism Relat Disord 2011;17(6):479-81. PMID 21530357
20: Bressman SB, Fahn S, Burke RE. Paroxysmal nonkinesigenic dystonia. Adv Neurol 1988;50:403-13. PMID 3400499
21: Brockmann K, Dumitrescu AM, Best TT, Hanefeld F, Refetoff S. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol 2005;252:663-6. PMID 15834651
22: Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994;8:136-40. PMID 7842011
23: Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004;63:2280-7. PMID 15623687
24: Bruno MK, Lee HY, Auburger GW, et al, Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology 2007;68:1782-9. PMID 17515540
25: Burguera JA, Catala J, Casanova B. Thalamic demyelination and paroxysmal dystonia in multiple sclerosis. Mov Disord 1991;6:379-81. PMID 1758462
26: Byrne E, White O, Cook M. Familial dystonic choreoathetosis with myokymia; a sleep responsive disorder . J Neurol Neurosurg Psychiatry 1991;54:1090-2. PMID 1783923
27: Cai C, Shi O, Li WD. Missense mutations of the proline-rich transmembrane protein 2 gene cosegregate with mild paroxysmal kinesigenic dyskinesia and infantile convulsions in a Chinese pedigree. Parkinsonism Relat Disord 2013;19(3):402-3. PMID 23063574
28: Camac A, Greene P, Khandji A. Paroxysmal kinesigenic dystonic choreoathetosis associated with a thalamic infarct. Mov Disord 1990;5(3):235-8. PMID 2388640
29: Castiglioni C, López I, Riant F, Bertini E, Terracciano A. PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins. Eur J Paediatr Neurol 2013;17(3):254-8. PMID 23182655
30: Castiglioni C, Verrigni D, Okuma C, et al. Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review. Eur J Paediatr Neurol 2015;19(5):497-503. PMID 26008863
31: Chatterjee A, Louis ED, Frucht S. Levetiracetam in the treatment of paroxysmal kinesigenic choreoathetosis. Mov Disord 2002;17:614-5. PMID 12112221
32: Chen YP, Song W, Yang J, et al. PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China. Eur J Neurol 2014;21(1):174-6. PMID 23496026
33: Chiesa V, Tamma F, Gardella E, Caputo E, Canger R, Canevini MP. Possible post-traumatic paroxysmal kinesigenic dyskinesia. Mov Disord 2008;23(16):2428-30. PMID 18855929
34: Chung EJ, Cho GN, Kim SJ. A case of paroxysmal kinesigenic dyskinesia in idiopathic bilateral striopallidodentate calcinosis. Seizure 2012;21(10):802-4. PMID 23058742
35: Ciampi E, Uribe-San-Martín R, Godoy-Santín J, Cruz JP, Cárcamo-Rodríguez C, Juri C. Secondary paroxysmal dyskinesia in multiple sclerosis: clinical-radiological features and treatment. Case report of seven patients. Mult Scler J 2017;23(13):1791-5. PMID 28397579
36: Clark CN, Weber YW, Lerche H, Warner TT. Paroxysmal exercise-induced dyskinesia of the hands. Mov Disord 2012;27(12):1579-80. PMID 23037144
37: Clark JD, Pahwa R, Koller WC. Diabetes mellitus presenting as paroxysmal kinesigenic dystonic choreoathetosis. Mov Disord 1995;10:354-5. PMID 7651459
38: Cloarec R, Bruneau N, Rudolf G, et al. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology 2012;79(21):2097-103. PMID 23077017
39: Cochen De Cock V, Bourdain F, Apartis E, Trocello JM, Roze E, Vidailhet M. Interictal myoclonus with paroxysmal kinesigenic dyskinesia. Mov Disord 2006;21(9):1533-5. PMID 16763976
40: Coleman J, Jouannot O, Ramakrishnan SK, et al. PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly. Cell Rep 2018;22(3):820-31. PMID 29346777
41: Dale RC, Gardiner A, Antony J, Houlden H. Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol 2012;54(10):958-60. PMID 22845787
42: Dale RC, Melchers A, Fung VS, Grattan-Smith P, Houlden H, Earl J. Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. Dev Med Child Neurol 2010;52(6):583-6. PMID 20187889
43: Debruyne F, Van Paesschen W, Van Eyken P, Bex M, Vandenberghe W. Paroxysmal nonkinesigenic dyskinesias due to recurrent hypoglycemia caused by an insulinoma. Mov Disord 2009;24(3):460-1. PMID 19235926
44: De Grandis E, Mir P, Edwards MJ, Quinn NP, Bhatia KP. Paroxysmal dyskinesia with interictal myoclonus and dystonia: a report of two cases. Parkinsonism Relat Disord 2008;14(3):250-2. PMID 18042422
45: Demir E, Prud’homee JF, Topcu M. Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family. Pediatr Neurol 2004;30(5):349-53. PMID 15165638
46: Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995;38:571-9. PMID 7574453
47: de Vries B, Callenbach PM, Kamphorst JT, et al. PRRT2 mutation causes benign familial infantile convulsions. Neurology 2012;79(21):2154-5. PMID 23077019
48: Diaz GE, Wirrell EC, Matsumoto JY, Krecke KN. Bilateral striopallidodentate calcinosis with paroxysmal kinesigenic dyskinesia. Pediatr Neurol 2010;43(1):46-8. PMID 20682203
49: Doummar D, Dentel C, Lyautey R, et al. Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia. Eur J Hum Genet 2020;28(10):1403-13. PMID 32467598
50: Du W, Bautista JF, Yang H, et al. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 2005;37:733-8. PMID 15937479
51: Dure LS, Mussell HG. Paroxysmal dyskinesia in a patient with pseudohypoparathyroidism. Mov Disord 1998;13:746-8. PMID 9686786
52: Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain 2015;138(Pt 12):3476-95. PMID 26598493
53: Erro R, Sheerin UM, Bhatia KP. Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. Mov Disord 2014;29(9):1108-16. PMID 24963779
54: Espeche A, Cersosimo R, Caraballo RH. Benign infantile seizures and paroxysmal dyskinesia: A well-defined familial syndrome. Seizure 2011;20(9):686-91. PMID 21764335
55: Factor SA, Coni RJ, Cowger M, Rosenblum EL. Paroxysmal tremor and orofacial dyskinesia secondary to biopterin synthesis defect. Neurology 1991;41:930-2. PMID 2046945
56: Fahn S. The paroxysmal dyskinesias. In: Marsden CD, Fahn S, editors. Movement disorders. Boston: Butterworth-Heinemann, 1994:310-46.
57: Falconer M, Driver M, Serafetinides E. Seizures induced by movement. Report of a case relieved by operation. J Neurol Neurosurg Psychiatry 1963;2:300-7. PMID 14043043
58: Fernandez M, Raskind W, Wolff J, et al. Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. Ann Neurol 2001;49:486-92. PMID 11310626
59: Fischbeck KH, Layzer RB. Paroxysmal choreoathetosis associated with thyrotoxicosis. Ann Neurol 1979;6:453-4. PMID 518039
60: Fredow G, Loscher W. Effects of pharmacological manipulation of GABAergic neurotransmission in a new mutant hamster model of paroxysmal dystonia. Eur J Pharmacol 1991;192:207-19. PMID 1851702
61: Friedman J, Feigenbaum A, Chuang N, Silhavy J, Gleeson JG. Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. Neurology 2017;89(22):2297-8. PMID 29093066
62: Friedman J, Méneret A, Chen DH, et al. ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. Mov Disord 2016;31(1):147-8. PMID 26686870
63: Friedman J, Olvera J, Silhavy JL, Gabriel SB, Gleeson JG. Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance. Neurology 2012;79(9):946-8. PMID 22895590
64: Friedman A, Zakrzewska-Pniewska B, Domitrz I, Lee HY, Ptacek L, Kwiecinski H. Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred. Eur Neurol 2009;61(1):39-41. PMID 18948699
65: Fröhlich K, Winder K, Linker RA, et al. Lesion correlates of secondary paroxysmal dyskinesia in multiple sclerosis. J Neurol 2018;265(10):2277-83. PMID 30066284
66: Ganos C, Aguirregomozcorta M, Batla A, et al. Psychogenic paroxysmal movement disorders--clinical features and diagnostic clues. Parkinsonism Relat Disord 2014;20(1):41-6. PMID 24090947
67: Garcia-Ruiz PJ, Villanueva V, Gutierrez-Delicado E, Echeverria A, Perez-Higueras A, Serratosa JM. Subthalamic lesion and paroxysmal tonic spasms. Mov Disord 2003;18(11):1401-3. PMID 14639695
68: Gardella E, Becker F, Møller RS, et al. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol 2016;79(3):428-36. PMID 26677014
69: Gardella E, Marini C, Trivisano M, et al. The phenotype of SCN8A developmental and epileptic encephalopathy. Neurology 2018;91(12):e1112-24. PMID 30171078
70: Gardiner AR, Bhatia KP, Stamelou M, et al. PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 2012;79(21):2115-21. PMID 23077024
71: Gardiner AR, Jaffer F, Dale RC, et al. The clinical and genetic heterogeneity of paroxysmal dyskinesias. Brain 2015;138(Pt 12):3567-80. PMID 26598494
72: Gatto EM, Zurru MC, Rugilo C. Medullary lesions and unusual bilateral paroxysmal dystonia in multiple sclerosis. Neurology 1996;46(3):847-8. PMID 8618705
73: Gay CT, Ryan SG. Paroxysmal kinesigenic dystonia after methylphenidate administration. J Child Neurol 1994;9:45-6. PMID 8151081
74: George MS, Pickett JB, Kohli H, et al. Paroxysmal dystonic reflex choreoathetosis after minor closed head injury. Lancet 1990;336:1134-5. PMID 1978013
75: Ghezzi D, Viscomi C, Ferlini A, et al. Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet 2009;18(6):1058-64. PMID 19124534
76: Gonzalez-Alegre P, Ammache Z, Davis PH, Rodnitzky RL. Moyamoya-induced paroxysmal dyskinesia. Mov Disord 2003;18(9):1051-6. PMID 14502675
77: Goodenough DJ, Fariello RG, Annis BL, Chun RM. Familial and acquired paroxysmal dyskinesias--a proposed classification with delineation of clinical features. Arch Neurol 1978;35:827-31. PMID 718486
78: Groffen AJ, Klapwijk T, van Rootselaar AF, Groen JL, Tijssen MA. Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia. J Neurol 2013;260(1):93-9. PMID 22752065
79: Guerrini R, Bonanni P, Nardocci N, et al. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol 1999;45:344-52. PMID 10072049
80: Hedera P, Xiao J, Puschmann A, Momčilović D, Wu SW, LeDoux MS. Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia. BMC Neurol 2012;12:93. PMID 22985072
81: Heron SE, Dibbens LM. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. J Med Genet 2013;50(3):133-9. PMID 23343561
82: Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012;90(1):152-60. PMID 22243967
83: Heron SE, Ong YS, Yendle SC, et al. Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. Epilepsia 2013;54(5):e86-9. PMID 23566103
84: Hess DC, Sethi KD, Nichols FT. Transient cerebral ischemia masquerading as paroxysmal dyskinesia. Cerebrovasc Dis 1991;1:54-7.
85: Homan RW, Vasko MR, Blaw M. Phenytoin plasma concentrations in paroxysmal kinesigenic choreoathetosis. Neurology 1980;30:673-6. PMID 7189844
86: Hopkins RS, Belyea BC, Grossman LB. Titubation and paroxysmal dyskinesia: an unusual presentation of hypothyroidism. Clin Pediatr (Phila) 2007;46(2):175-7. PMID 17325092
87: Huang YG, Chen YC, Du F, et al. Topiramate therapy for paroxysmal kinesigenic choreoathetosis. Mov Disord 2005;20:75-7. PMID 15390133
88: Huang XJ, Wang SG, Guo XN, et al. The phenotypic and genetic spectrum of paroxysmal kinesigenic dyskinesia in China. Mov Disord 2020;35(8):1428-37. PMID 32392383
89: Huang XJ, Wang T, Wang JL, et al. Paroxysmal kinesigenic dyskinesia: clinical and genetic analyses of 110 patients. Neurology 2015;85(18):1546-53. PMID 26446061
90: Jankovic J, Demirkiran M. Classification of paroxysmal dyskinesias and ataxias. Adv Neurol 2002;89:387-400. PMID 11968463
91: Joo EY, Hong SB, Tae WS, et al. Perfusion abnormality of the caudate nucleus in patients with paroxysmal kinesigenic choreoathetosis. Eur J Nucl Med Mol Imaging 2005;32:1205-9. PMID 15948007
92: Joynt RJ, Green D. Tonic seizures as a manifestation of multiple sclerosis. Arch Neurol 1962;6:293-9. PMID 14452657
93: Kamm C, Mayer P, Sharma M, Niemann G, Gasser T. New family with paroxysmal exercise-induced dystonia and epilepsy. Mov Disord 2007;22:873-7. PMID 17290464
94: Kato H, Kobayashi K, Kohari S, et al. Paroxysmal kinesigenic choreoathetosis and paroxysmal dystonic choreoathetosis in a patient with familial idiopathic hypoparathyroidism. Tohoku J Exp Med 1987;151:233-9. PMID 3576617
95: Katschnig P, Schwingenschuh P, Chaudhary UJ, et al. Paroxysmal limb dyskinesia induced by weight: an unusual case of cortical reflex seizures. Mov Disord 2011;26(13):2438-9. PMID 21956399
96: Kaufman CB, Mink JW, Schwalb JM. Bilateral deep brain stimulation for treatment of medically refractory paroxysmal nonkinesigenic dyskinesia. J Neurosurg 2010;112(4):847-50. PMID 19799495
97: Kertesz A. Paroxysmal kinesigenic choreoathetosis: an entity within paroxysmal choreoathetosis syndrome. Description of ten cases including one autopsied. Neurology 1967;17:680-90. PMID 6067487
98: Khor AH, Lim KS, Tan CT, Wong SM, Ng CC. HLA-B*15:02 association with carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in an Indian population: a pooled-data analysis and meta-analysis. Epilepsia 2014;55(11), e120-4. PMID 25266342
99: Kikuchi T, Nomura M, Tomita H, et al. Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. J Hum Genet 2007;52:334-41. PMID 17387577
100: Kim MO, Im JH, Choi DG, Lee MC. Proton MR spectroscopic findings in paroxysmal kinesigenic dyskinesia. Mov Disord 1998;13:570-5. PMID 9613757
101: Klein C, Vieregge P, Kompf D. Paroxysmal choreoathetosis in a patient with idiopathic basal ganglia calcification, chorea, and dystonia. Mov Disord 1997;12(2):254-5. PMID 9087991
102: Kluge A, Kettner B, Zschenderlein R, et al. Changes in perfusion pattern using ECD-SPECT indicate frontal lobe and cerebellar involvement in exercise-induced paroxysmal dystonia. Mov Disord 1998;13(1):125-34. PMID 9452337
103: Ko CH, Kong CK, Ngai WT, Ma KM. Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis. Pediatr Neurol 2001;24:225-7. PMID 11301226
104: Koch H, Weber YG. The glucose transporter type 1 (Glut1) syndromes. Epilepsy Behav 2019;91:90-3. PMID 30076047
105: Kumar H, South A, Jog M. Carbamazepine responsive dysphagia--a variant of paroxysmal kinesigenic dyskinesia. Mov Disord 2011;26(7):1356-8. PMID 21495069
106: Kurlan R, Behr J, Medved L, Shoulson I. Familial paroxysmal dystonic choreoathetosis: a family study. Mov Disord 1987;2(3):187-92. PMID 3504549
107: Labate A, Tarantino P, Viri M, et al. Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. Epilepsia 2012;53(12):e196-9. PMID 23126439
108: Lambrecq V, Riant F, Tournier-Lasserve E, Michel V, Burbaud P. Caffeine improved paroxysmal dyskinesia caused by the PRRT2 mutation. Mov Disord 2013;28(5):683. PMID 23536488
109: Lance JW. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 1977;2:285-93. PMID 617268
110: Latorre A, Bhatia KP. Treatment of paroxysmal dyskinesia. Neurol Clin 2020;38(2):433-47.** PMID 32279719
111: Lee HY, Xu Y, Huang Y, et al. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet 2004;13(24):3161-70. PMID 15496428
112: Lee YC, Lee MJ, Yu HY, et al. PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. PLoS One 2012b;7(8):e38543. PMID 22870186
113: Li HF, Chen WJ, Ni W, et al. PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response. Neurology 2013;80(16):1534-5. PMID 23535490
114: Liang S, Yu X, Zhang S, Tai J. A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. Brain Res 2015;1595C:120-26. PMID 25107857
115: Liao JY, Salles PA, Shuaib UA, Fernandez HH. Genetic updates on paroxysmal dyskinesias. J Neural Transm (Vienna) 2021;128(4):447-71.** PMID 33929620
116: Lim EC, Wong YS. Post-traumatic paroxysmal exercise-induced dystonia: case report and review of the literature. Parkinsonism Relat Disord 2003;9(6):371-3. PMID 12853238
117: Lipton J, Rivkin MJ. 16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a child. Neurology 2009;73(6):479-80. PMID 19667324
118: Liu Q, Qi Z, Wan XH, et al. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. J Med Genet 2012;49(2):79-82. PMID 22209761
119: Liu XR, Wu M, He N, et al. Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. Genes Brain Behav 2013;12(2):234-40. PMID 23190448
120: Loher TJ, Krauss JK, Burgunder JM, Taub E, Siegfried J. Chronic thalamic stimulation for treatment of dystonic paroxysmal nonkinesigenic dyskinesia. Neurology 2001;56:268-70. PMID 11160971
121: Lombroso CT. Nocturnal paroxysmal dystonia due to a subfrontal cortical dysplasia. Epileptic Disord 2000;2:15-20. PMID 10937166
122: Lombroso CT, Fischman A. Paroxysmal non-kinesigenic dyskinesia: pathophysiological investigations. Epileptic Disord 1999;1:187-93. PMID 10937152
123: Loong SC, Ong YY. Paroxysmal kinesigenic choreoathetosis. Report of a case relieved by l-dopa. J Neurol Neurosurg Psychiatry 1973;31:921-4. PMID 4772726
124: Lotze T, Jankovic J. Paroxysmal kinesigenic dyskinesias. Semin Pediatr Neurol 2003;10(1):68-79. PMID 12785750
125: Lu Q, Shang L, Tian WT, Cao L, Zhang X, Lui Q. Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations. Ann Transl Med 2020;8(1):8. PMID 32055599
126: Luo C, Chen Y, Song W, Chen Q, Gong Q, Shang HF. Altered intrinsic brain activity in patients with paroxysmal kinesigenic dyskinesia by PRRT2 mutation: altered brain activity by PRRT2 mutation. Neurol Sci 2013;34(11):1925-31. PMID 23532549
127: Lyoo CH, Kim DJ, Chang H, Lee MS. Moyamoya disease presenting with paroxysmal exercise0induced dyskinesia. Parkinsonism Relat Disord 2007;13(7):446-8. PMID 16952479
128: Madhusudanan M, Bhatia KP, Balint B. Paroxysmal craniocervical dyskinesia as manifestation of frontal lobe epilepsy. Mov Disord 2011;26(14):2580-2. PMID 21887709
129: Maheshwari S, Anthony A, Kushwaha S, Singh S, Desai R, Madan D. Moyamoya disease presenting as alternating hemiparesis with relapsing remitting hemichorea: an unusual manifestation. J Pediatr Neurosci 2018;13(4):514-6. PMID 30937104
130: Mahmud FH, Linglart A, Bastepe M, Juppner H, Lteif AN. Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. Pediatrics 2005;115:e242-4. PMID 15629959
131: Marini C, Conti V, Mei D, et al. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology 2012;79(21):2109-14. PMID 23077026
132: Mayeux R, Fahn S. Paroxysmal dystonic choreoathetosis in a patient with familial ataxia. Neurology 1982;32:1184-6. PMID 6889704
133: Mehanna R, Jankovic J. Movement disorders in multiple sclerosis and other demyelinating diseases. J Neurol Sci 2013;328(1-2):1-8. PMID 23522528
134: Mehta SH, Morgan JC, Sethi KD. Paroxysmal dyskinesias. Curr Treat Options Neurol 2009;11(3):170-8. PMID 19364451
135: Meneret A, Gaudebout C, Riant F, Vidailhet M, Depienne C, Roze E. PRRT2 mutations and paroxysmal disorders. Eur J Neurol 2013;20(6):872-8. PMID 23398397
136: Meneret A, Grabli D, Depienne C, et al. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology 2012;79(2):170-4. PMID 22744660
137: Merchut MP, Brumlik J. Painful tonic spasms caused by putaminal infarction. Stroke 1986;17(6):1319-21. PMID 3810737
138: Micheli F, Fernadez Pardal M, Arbelaiz R, et al. Paroxysmal dystonia responsive to anticholinergic drugs. Clin Neuropharmacol 1987;10:365-9. PMID 3503680
139: Micheli F, Pardal MM, Padera IC, Giannaula R. Sporadic paroxysmal dystonic choreoathetosis associated with basal ganglia calcifications. Ann Neurol 1986;20:750. PMID 3813505
140: Micheli F, Tschopp L, Cersosimo MG. Oxcarbazepine-responsive paroxysmal kinesigenic dyskinesia in Wilson disease. Clin Neuropharmacol 2011;34(6):262-4. PMID 22104638
141: Mirsattari SM, Berry ME, Holden JK, Ni W, Nath A, Power C. Paroxysmal dyskinesias in patients with HIV infection. Neurology 1999;52:109-14. PMID 9921856
142: Mount LA, Reback S. Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch Neurol Psychiatry 1940;44:841-7.
143: Munchau A, Valente EM, Shahidi GA, et al. A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. J Neurol Neurosurg Psychiatry 2000;68:609-14. PMID 10766892
144: Nijssen PC, Tijssen CC. Stimulus sensitive paroxysmal dyskinesias associated with a thalamic infarct. Mov Disord 1992;7:364-6. PMID 1484533
145: Nobrega JN, Richter A, Mcintyre Burnham W, Loscher W. Alterations in the brain GABAA/benzodiazepine receptor-chloride ionophore complex in a genetic model of paroxysmal dystonia: a quantitative autoradiographic analysis. Neuroscience 1995;64:229-39. PMID 7708208
146: Nygaard TG. Dopa-responsive dystonia. In: Tsui JK, Calne DB, editors. Handbook of dystonia. New York: Marcel Dekker, 1995:213-26.
147: Ohmori I, Ohtsuka Y, Ogino T, Yoshinaga H, Kobayashi K, Oka E. The relationship between paroxysmal kinesigenic choreoathetosis and epilepsy. Neuropediatrics 2002;33:15-20. PMID 11930271
148: Okumura A, Shimojima K, Kubota T, et al. PRRT2 mutation in Japanese children with benign infantile epilepsy. Brain Dev 2013;35(7):641-6. PMID 23131349
149: Ondo WG, Verma A. Physiological assessment of paroxysmal dystonia secondary to subacute sclerosing panencephalitis. Mov Disord 2002;17:154-7. PMID 11835454
150: Perlmutter JS, Raichle ME. Pure hemidystonia with basal ganglia abnormalities on positron emission tomography. Ann Neurol 1984;15:228-33. PMID 6609680
151: Persoon S, Kappelle LJ, Klijn CJ. Limb-shaking transient ischaemic attacks in patients with internal carotid artery occlusion: a case-control study. Brain 2010;133(Pt 3):915-22. PMID 20157011
152: Petzinger GM , Raymond D, De Leon D, et al. Paroxysmal dystonic choreoathetosis and exertional muscle cramping. Mov Disord 1996;11(Suppl):229.
153: Plant GT, Williams AC, Earl CJ, Marsden CD. Familial paroxysmal dystonia induced by exercise. J Neurol Neursurg Psychiatry 1984;47:275-9. PMID 6707673
154: Pons R, Cuenca-León E, Miravet E, et al. Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: Report of two Southern European families. Eur J Paediatr Neurol 2011;16(1):86-9. PMID 21962874
155: Prakash S, Mathew C, Bhagat S, Dholakia SY, Shah ND. A case of mixed type of paroxysmal dyskinesia: is there an overlap between two clinical categories of paroxysmal dyskinesia. Neurol Sci 2011;32(1):143-5. PMID 20585818
156: Previdi P, Buzzi P. Paroxysmal dystonia due to a lesion of the cervical spinal cord: case report. Ital J Neurol Sci 1992;13:521-3. PMID 1428790
157: Rabin JJ. Paroxysmal choreoathetosis following head injury. Ann Neurol 1977;2:447-8. PMID 617585
158: Rainier S, Thomas D, Tokarz D, et al. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol 2004;61:1025-9. PMID 15262732
159: Riant F, Roze E, Barbance C, et al. PRRT2 mutations cause hemiplegic migraine. Neurology 2012;79(21):2122-4. PMID 23077016
160: Richards RN, Barnett HJM. Paroxysmal dystonic choreoathetosis; a family study and review of the literature. Neurology 1968;18:461-9. PMID 5691173
161: Rochette J, Roll P, Fu YH, et al. Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. Epileptic Disord 2010;12(3):199-204. PMID 20716510
162: Rollnik JD, Winkler T, Ganser A. A case of symptomatic kinesigenic dyskinesia with primary central nervous system lymphoma. Nervenarzt 2003;74(4):362-5. PMID 12707706
163: Rosen JA. Paroxysmal choreoathetosis associated with perinatal hypoxic encephalopathy. Arch Neurol 1964;11:385-7. PMID 14196731
164: Ryan DP, Ptácek LJ. Episodic neurological channelopathies. Neuron 2010;68(2):282-92. PMID 20955935
165: Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant nocturnal frontal lobe epilepsy: a distinctive clinical disorder. Brain 1995;118 (Pt 1):61-73. PMID 7895015
166: Scheffer IE, Grinton BE, Heron SE, et al. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology 2012;79(21):2104-8. PMID 23077018
167: Schlaggar BL, Mink JW. A 16-year-old with episodic hemidystonia. Sem Pediatr Neurol 1999;6:210-5. PMID 10522341
168: Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I, et al. GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Mov Disord 2009;24(11):1684-8. PMID 19630075
169: Schubert J, Paravidino R, Becker F, et al. PRRT2 mutations are the major cause of benign familial infantile seizures. Hum Mutat 2012;33(10):1439-43. PMID 22623405
170: Sethi KD. Paroxysmal hemidystonia: evidence of a midbrain lesion. Neurology 1993;43:329.
171: Sethi KD: Paroxysmal dyskinesias. In: Jankovic J, Tolosa E, editors. Parkinson’s Disease and Movement Disorders. 4th ed. Philadelphia: Lippincott, Williams & Wilkins, 2002:430-7.
172: Sethi KD, Hess DC, Huffnagle VH, Adams RJ. Acetazolamide treatment of paroxysmal dystonia in central demyelinating disease. Neurology 1992;42:919-23. PMID 1565252
173: Sethi KD, Lee KH, Deuskar V, Hess DC. Orthostatic paroxysmal dystonia. Mov Disord 2002;17:841-5. PMID 12210892
174: Shakkottai VG, Paulson HL. Physiologic alterations in ataxia: channeling changes into novel therapies. Arch Neurol 2009;66:1196-201. PMID 19822774
175: Sheerin UM, Stamelou M, Charlesworth G, et al. Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. J Neurol 2013;260(2):656-60. PMID 23180180
176: Shen Y, Lee HY, Rawson J, et al. Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. Hum Mol Genet 2011;20(12):2322-32. PMID 21487022
177: Shibasaki H, Kuriowa Y. Painful tonic seizure in multiple sclerosis. Arch Neurol 1974;30;47-51. PMID 4586026
178: Shimojima K, Okumura A, Natsume J, et al. Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia. Brain Dev 2012;34(3):230-3. PMID 21600715
179: Shirane S, Sasaki M, Kogure D, Matsuda H, Hashimoto T. Increased ictal perfusion of the thalamus in paroxysmal kinesigenic dyskinesia. J Neurol Neurosurg Psychiatry 2001;71:408-10. PMID 11511723
180: Silveira-Moriyama L, Gardiner AR, Meyer E, et al. Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. Dev Med Child Neurol 2013;55(4):327-34. PMID 23363396
181: Soffer D, Licht A, Yaar I, Abramsky O. Paroxysmal choreoathetosis as a presenting symptom in idiopathic hypoparathyroidism. J Neurol Neurosurg Psychiatry 1977;40:692-4. PMID 915513
182: Sorgun MH, Akbostancı MC, Yücesan C, Erdoğan S, Mutluer N. Striatal infarct with paroxysmal nonkinesigenic dyskinesia. Acta Neurol Belg 2013;113(2):197-8. PMID 22975836
183: Spacey SD, Adams PJ, Lam PC, et al. Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. Neurology 2006;66(10):1588-90. PMID 16717228
184: Spacey SD, Valente EM, Wali GM, et al. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. Mov Disord 2002;17:717-25. PMID 12210861
185: Specchio N, Terracciano A, Trivisano M, et al. PRRT2 is mutated in familial and non-familial benign infantile seizures. Eur J Paediatr Neurol 2013;17(1):77-81. PMID 22902423
186: Steinlein OK, Villain M, Korenke C. The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions. Seizure 2012;21(9):740-2. PMID 22877996
187: Stevens H. Paroxysmal choreoathetosis: a form of reflex epilepsy. Arch Neurol 1966;14:415-20. PMID 5906466
188: Strzelczyk A, Bürk K, Oertel WH. Treatment of paroxysmal dyskinesias. Expert Opin Pharmacother 2011;12(1):63-72. PMID 21108579
189: Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008;131(Pt 7):1831-44. PMID 18577546
190: Sun W, Li J, Zhu Y, Yan X, Wang W. Clinical features of paroxysmal kinesigenic dyskinesia: report of 24 cases. Epilepsy Behav 2012;25(4):695-9. PMID 23067699
191: Szczałuba K, Jurek M, Szczepanik E, et al. A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues. Pediatr Neurol 2009;41(2):135-8. PMID 19589464
192: Tabaee-Zadeh MJ, Frame B, Kapphahn K. Kinesiogenic choreoathetosis and idiopathic hypoparathyroidism. N Engl J Med 1972;286:762-3. PMID 5025780
193: Tai ML, Lim SY, Tan CT. Idiopathic paroxysmal kinesigenic dyskinesia in Malaysia, a multi-racial Southeast Asian country. J Clin Neurosci 2010;17(8):1089-90. PMID 20542699
194: Tan LC, Methawasin K, Teng EW, et al. Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations. Eur J Neurol 2014;21(4):674-8. PMID 23551744
195: Tian WT, Zhan FX, Liu ZH, et al. TMEM151A variants cause paroxysmal kinesigenic dyskinesia: a large-sample study. Mov Disord 2022;37(3):545-52. PMID 34820915
196: Temudo T, Martins E, Pocas F, Cruz R, Vilarinho L. Maple syrup urine disease presenting as paroxysmal dystonia. Ann Neurol 2004;56(5):749-50. PMID 15505779
197: Thomas KP, Muthugovindan D, Singer HS. Paroxysmal kinesigenic dyskinesias and pseudohypo-parathyroidism type Ib. Pediatr Neurol 2010;43(1):61-4. PMID 20682207
198: Tinuper P, Cerullo A, Cirignotta F, Cortelli P, Lugaresi E, Montagna P. Nocturnal paroxysmal dystonia with short lasting attacks. Three cases with evidence for an epileptic frontal lobe origin of seizures. Epilepsia 1990;31(5):549-56. PMID 2401246
199: Torisu H, Watanabe K, Shimojima K, et al. Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes. Brain Dev 2014;36(4):342-5. PMID 23768507
200: Tschopp L, Raina G, Salazar Z, Micheli F. Neuroacanthocytosis and carbamazepine responsive paroxysmal dyskinesias. Parkinsonism Relat Disord 2008;14(5):440-2. PMID 18314374
201: Urbizu A, Cuenca-León E, Raspall-Chaure M, et al. Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. J Neurol Sci 2010;295(1-2):110-3. PMID 20621801
202: Valente P, Castroflorio E, Rossi P, et al. PRRT2 Is a Key Component of the Ca 2+ -Dependent Neurotransmitter Release Machinery. Cell Rep 2016;15(1):117-31. PMID 27052163
203: Valente EM, Spacey SD, Wali GM, Bhatia KP, Dixon PH, Wood NW, Davis MB. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain 2000;123:2040-5. PMID 11004121
204: van Vliet R, Breedveld G, de Rijk-van Andel J, et al. PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology 2012;79(8):777-84. PMID 22875091
205: Vahedi K, Joutel A, Van Bogaert P, et al. A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol 1995;37:289-93. PMID 7695228
206: Vijiaratnam N, Bhatia KP, Lang AE, Raskind WH, Espay AJ. ADCY5-related dyskinesia: improving clinical detection of an evolving disorder. Mov Disord Clin Pract 2019;6(7):512-20. PMID 31538084
207: Wali GM. Paroxysmal hemidystonia induced by prolonged exercise and cold. J Neurol Neurosurg Psychiatry 1992;55:236-7. PMID 1564494
208: Waln O, Jankovic J. Paroxysmal movement disorders. Neurol Clin 2015;33(1):137-52. PMID 25432727
209: Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011;134(Pt 12):3493-501. PMID 22120146
210: Wang JL, Mao X, Hu ZM, et al. Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases. Neurosci Lett 2013a;552C:40-5. PMID 23896529
211: Wang K, Zhao X, Du Y, He F, Peng G, Luo B. Phenotypic overlap among paroxysmal dyskinesia subtypes: lesson from a family with PRRT2 gene mutation. Brain Dev 2013b;35(7):664-6. PMID 22902309
212: Warner GT, McAuley JH. Alcohol-induced paroxysmal nonkinesogenic dyskinesia after pallidal hypoxic insult. Mov Disord 2003;18(4):455-6. PMID 12671957
213: Weber YG, Jacob M, Weber G, Lerche H. A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1. Epilepsia 2008a;49(11):1959-64. PMID 18479394
214: Weber YG, Kamm C, Suls A, et al. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology 2011;77(10):959-64. PMID 21832227
215: Weber YG, Lerche H. Genetics of paroxysmal dyskinesias. Curr Neurol Neurosci Rep 2009;9(3):206-11. PMID 19348709
216: Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008b;118(6):2157-68. PMID 18451999
217: Winer JB, Fish DR, Sawyers D, Marsden CD. A movement disorder as a presenting feature of recurrent hypoglycemia. Mov Disord 1990;5:176-7. PMID 2325681
218: Wu LJ, Jankovic J. Runner's dystonia. J Neurol Sci 2006;251:73-6. PMID 17097111
219: Yeghiazaryan NS, Striano P, Accorsi P, et al. Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome. Mov Disord 2010;25(14):2468-70. PMID 20803517
220: Yeh TH, Lin JJ, Lai SC, et al. Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. J Neurol Sci 2012;323(1-2):80-4. PMID 22967746
221: Yeşil G, Aralaşmak A, Akyüz E, İçağasıoğlu D, Uygur Şahin T, Bayram Y. Expanding the phenotype of homozygous KCNMA1 mutations; dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy. Balkan Med J 2018;35(4):336-9. PMID 29545233
222: Yoo D, Kim HJ, Choi JH, Lim JH, Jeon B. Tics in paroxysmal kinesigenic dyskinesia. Mov Disord Clin Pract 2019;6(6):502-3. PMID 31392257
223: Yoon JH, Lee PH, Yoon SN. Subtraction brain SPECT imaging in a patient with paroxysmal exercise-induced dystonia: role of the primary somatosensory cortex. Arch Neurol 2007;64(11):1652-6. PMID 17998449
224: Youn J, Kim JS, Lee M, et al. Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation. J Clin Neurol 2014;10(1):50-4. PMID 24465263
225: Zhang C, Zhou X, Feng M, Yue W. Paroxysmal dyskinesia and epilepsy in pseudohypoparathyroidism. Mol Genet Genomic Med 2020;8(10):e1423. PMID 32715645
226: Zhang ZB, Tian MQ, Gao K, Jiang YW, Wu Y. De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay. Mov Disord 2015;30(9):1290-2. PMID 26195193
227: Zhou Y, Zhang J, Wang X, Peng Q, Shang X. Paroxysmal kinesigenic dyskinesia associated with a novel POLG variant: a case report. Medicine (Baltimore) 2021;100(4):e24395. PMID 33530235
228: Zuniga-Ramirez C, Kramis-Hollands M, Mercado-Pimentel R, et al. Generalized dystonia and paroxysmal dystonic attacks due to a novel ATP1A3 variant. Tremor Other Hyperkinet Mov 2019;9. PMID 31871823

Contributors

All contributors' financial relationships have been reviewed and mitigated to ensure that this and every other article is free from commercial bias.

Author

Mariam Hull MD

Dr. Hull of Baylor College of Medicine and Texas Children’s Hospital has no relevant financial relationships to disclose.
See Profile

Editor

Robert Fekete MD

Dr. Fekete of New York Medical College received consultation fees from Acadia Pharmaceutical, Acorda, Adamas/Supernus Pharmaceuticals, Amneal/Impax, Kyowa Kirin, Lundbeck Inc., Neurocrine Inc., and Teva Pharmaceutical, Inc.
See Profile

Former Authors

Arjun Tarakad MD
Joseph Jankovic MD
Kapil Sethi MD (original author), Jonathan W Mink MD PhD, and Ainhi Ha BSc MBBS

Patient Profile

Age range of presentation: 1 month to 65+ years
Sex preponderance: male>female, >2:1
Heredity: heredity typical

heredity may be a factor

autosomal dominant
Population groups selectively affected: none selectively affected
Occupation groups selectively affected: none selectively affected

ICD & OMIM codes

ICD-9: Paroxysmal choreoathetosis: 333.5
ICD-10: Other chorea: G25.5
OMIM: Generalized epilepsy and paroxysmal dyskinesia: #609446

Paroxysmal nonkinesigenic dyskinesia: #118800

Paroxysmal kinesigenic choreoathetosis: %128200

Convulsions, familial infantile, with paroxysmal choreoathetosis: %602066

This is an article preview.
Start a Free Account
to access the full version.

Nearly 3,000 illustrations, including video clips of neurologic disorders.
Every article is reviewed by our esteemed Editorial Board for accuracy and currency.
Full spectrum of neurology in 1,200 comprehensive articles.
Listen to MedLink on the go with Audio versions of each article.

Questions or Comment?

MedLink®, LLC

3525 Del Mar Heights Rd, Ste 304
San Diego, CA 92130-2122

Toll Free (U.S. + Canada): 800-452-2400

US Number: +1-619-640-4660

Support: service@medlink.com

Editor: editor@medlink.com

ISSN: 2831-9125

Paroxysmal dyskinesias

Associated Disorders

Cerebral palsy
Cerebrovascular disease
Demyelinating disease
Hypoparathyroidism
Multiple sclerosis
- Nonketotic hyperglycemia
- Progressive supranuclear palsy

Differential Diagnosis

dopa-responsive dystonia
seizures
pseudoseizures
tics
symptomatic paroxysmal dyskinesias
- psychogenic paroxysmal dystonias

Also Relevant

Benign infantile seizures
Chorea in childhood
Genetics of movement disorders
Psychogenic movement disorders
Rating scales of movement disorders

Paroxysmal dyskinesias …

Paroxysmal dyskinesias

Introduction

Overview

Key points

Historical note and terminology

Clinical manifestations

Presentation and course

Table 1. Classification According to Clinical (Axis I) and Genetic (Axis II) Characteristics

Prognosis and complications

Clinical vignette

Biological basis

Etiology and pathogenesis

Epidemiology

Prevention

Differential diagnosis

Confusing conditions

Diagnostic workup

Management

Special considerations

Pregnancy

Media

References

Contributors

Author

Editor

Former Authors

Patient Profile

ICD & OMIM codes

This is an article preview.
Start a Free Account
to access the full version.

Questions or Comment?

Also in This Category

Hemifacial spasm

Wilson disease

Anti-LGI1 encephalitis

Self-limited (familial) neonatal epilepsy

Alcohol withdrawal seizures

Epileptic lesions due to malformation of cortical development

Epileptic spasms

Sleep and epilepsy

Paroxysmal dyskinesias

Introduction

Overview

Key points

Historical note and terminology

Clinical manifestations

Presentation and course

Table 1. Classification According to Clinical (Axis I) and Genetic (Axis II) Characteristics

Prognosis and complications

Clinical vignette

Biological basis

Etiology and pathogenesis

Epidemiology

Prevention

Differential diagnosis

Confusing conditions

Diagnostic workup

Management

Special considerations

Pregnancy

Media

References

Contributors

Author

Editor

Former Authors

Patient Profile

ICD & OMIM codes

This is an article preview. Start a Free Account to access the full version.

Questions or Comment?

Also in This Category

Hemifacial spasm

Wilson disease

Anti-LGI1 encephalitis

Self-limited (familial) neonatal epilepsy

Alcohol withdrawal seizures

Epileptic lesions due to malformation of cortical development

Epileptic spasms

Sleep and epilepsy

This is an article preview.
Start a Free Account
to access the full version.