Aromatic L-amino acid decarboxylase deficiency
Sep. 13, 2024
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Benign adult familial myoclonic epilepsy: myoclonic jerks
A 68-year-old man had a family history of hand tremors and upper-limb jerks that began at 20 years of age and for which he had been treated for several years with propranolol (20 mg/day). Tremors consisted of continuous, rhythmic, distal fine twitches at the hands, enhanced by emotion or fatigue. Daily activities were not significantly disturbed except for some difficulties in skillful actions, such as writing, buttoning, and picking up small objects. Other than the tremor, the patient suffered from distal arrhythmic, mainly postural, myoclonic jerks, especially in the upper limbs. (Contributed by Dr. Pasquale Striano.)