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spinocerebellar ataxia type 20

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.
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. SCA20 is an autosomal dominant, adult-onset form characterized by dysarthria due to spasmodic dysphonia followed by slowly progressive ataxia.
Mondo Term and Equivalent IDs
MONDO:0012098:  spinocerebellar ataxia type 20
GARD:0009997: 
MESH:C537199: 
Orphanet:101110: 
SCTID:718771009: 
UMLS:C1837541: