Autosomal recessive ataxia, Beauce type

Orpha code: 88644OMIM code: 610743

Definicja

A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several <i<SYNE1</i> gene mutations.

Disease data
Klasyfikacja

Disease

Synonimy
ARCA1
ARCA1
Autosomalna recesywna ataksja móżdżkowa typu 1
SCAR8
Autosomal recessive cerebellar ataxia type 1
SCAR8
Kod ORPHA
88644
Kod OMIM
610743
Kod ICD10
G11.2
Kod ICD11
-

No additional description.

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