Autosomal recessive ataxia, Beauce type

Orpha code: 88644OMIM code: 610743

Definition

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
Classification

Disease

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

No additional description.

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