Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

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Name:
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Description:
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.
ORPHAcode:
2590
Synonyms:
Hereditary myoclonus-progressive distal muscular atrophy syndrome
Jankovic-Rivera syndrome
SMA-PME
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14