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spinocerebellar ataxia type 27

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.
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. SCA27 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder, with onset in late-childhood to early adulthood, characterized by ataxia with tremor, orofacial dyskinesia, psychiatric symptoms and cognitive deficits.
Mondo Term and Equivalent IDs
MONDO:0012247:  spinocerebellar ataxia type 27
GARD:0009963: 
MESH:C537204: 
Orphanet:98764: 
SCTID:719252002: 
UMLS:C1836383: 
UMLS:C4304846: