Синдром спинальной мышечной атрофии-прогрессирующей миоклонической эпилепсии
Определение
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 1 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.