Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Orpha code: 2590OMIM code: 159950

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.

Disease data
Classification

Disease

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl