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spinocerebellar ataxia type 31

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.
Uniprot Description A form of spinocerebellar ataxia, 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. SCA31 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by pure cerebellar ataxia without additional signs.
Mondo Term and Equivalent IDs
MONDO:0007296:  spinocerebellar ataxia type 31
GARD:0009975: 
MESH:C566146: 
Orphanet:217012: 
SCTID:715826005: 
UMLS:C1861736: 
UMLS:C4274986: