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autosomal recessive ataxia, Beauce type

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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 gene mutations.
Uniprot Description Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form.
Mondo Term and Equivalent IDs
MONDO:0012549:  autosomal recessive ataxia, Beauce type
DOID:0111618: 
GARD:0012234: 
Orphanet:88644: 
UMLS:C1853116: 
UMLS:C3683483: