Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Alternate names
SMA-PME; Myoclonus hereditary progressive distal muscular atrophy; Hereditary myoclonus-progressive distal muscular atrophy syndrome; Jankovic-Rivera syndrome; Spinal muscular atrophy with progressive myoclonic epilepsy
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.
NIH genetic and rare disease info
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is a rare disease.
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