Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Definition
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.
Also known as hereditary myoclonus-progressive distal muscular atrophy syndrome, Jankovic-Rivera syndrome — per MONDO