Perspectives
Perspectives: Dr. Jerry Mendell discusses Duchenne muscular dystrophy and gene therapy
Feb. 15, 2022
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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
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This 2-year-old normal development girl presented with a history of jerks and some vague episodes, combined with jerks or independent, for the previous 2 months. Her parents thought these episodes were tics, part of a hyperactive behavior, or even a frightened reaction. They worried when the daily frequency increased to around 15 episodes. Note during sleep the asynchronous jerks of lower limbs or more generalized and mild, concomitant with brief generalized spike-and-wave discharges. Hyperventilation induced brief typical absences and no response to verbal stimulus. She responded to sodium valproate. She had remained seizure-free for 4 years and was advised to gradually reduce the daily dose and be reassessed in 3 to 4 months with a sleep-awake video-EEG--or call earlier if seizures recurred. (Contributed by Dr. Athanasios Covanis.)