Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

MONDO:0008045

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: Jankovic-Rivera syndrome, hereditary myoclonus-progressive distal muscular atrophy syndrome, Jankovic Rivera syndrome, SMAPME, hereditary myoclonus and progressive distal muscular atrophy, myoclonus hereditary progressive distal muscular atrophy, myoclonus, hereditary, with progressive distal muscular atrophy, spinal muscular atrophy with progressive myoclonic epilepsy

21 clinical trials for this condition and its sub-types, 0 tagged with Spinal muscular atrophy-progressive myoclonic epilepsy syndrome itself.

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