Neuro-Ophthalmology & Neuro-Otology
Central deafness
May. 01, 2024
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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 18-year-old girl has progressive myoclonic epilepsy type 1 (EPM1) disease that began at 12 years of age with action myoclonus and generalized tonic-clonic seizures. Despite major antimyoclonic therapy, including valproate, phenobarbital, benzodiazepines, and piracetam at 27 g/day, she is markedly handicapped by major myoclonic jerks elicited by action, intention of action, or even any cutaneous stimuli. There is also a pseudocerebellar syndrome with the finger-to-nose maneuver and marked photosensitivity. (Courtesy of Dr. P Thomas. From: The educational Kit on Epilepsies. Volume 2: Idiopathic generalised epilepsies with myoclonic jerks. Oxford: Medicinae, 2007.)