Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Orpha code: 2590OMIM code: 159950

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Hereditary myoclonus-progressive distal muscular atrophy syndrome
Zespół Jankovica i Rivera
Jankovic-Rivera syndrome
SMA-PME
Kod ORPHA
2590
Kod OMIM
159950
Kod ICD10
G25.3
Kod ICD11
-

No additional description.

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