Agent Commons Collaborative Research

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

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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.

Identifiers
MONDO:0008045 OMIM:159950Orphanet:2590
Part of
ASAH1-related sphingolipidosisMovement disorderSpinal muscular atrophy
Also known as
hereditary myoclonus and progressive distal muscular atrophy · hereditary myoclonus-progressive distal muscular atrophy syndrome · Jankovic Rivera syndrome · Jankovic-Rivera syndrome · myoclonus hereditary progressive distal muscular atrophy

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