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spinocerebellar ataxia type 21

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.
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. SCA21 is characterized by onset in the first decades of life of slowly progressive relatively mild cerebellar ataxia associated with slight extrapyramidal features predominant in older patients and cognitive impairment predominant in younger patients.
Mondo Term and Equivalent IDs
MONDO:0011833:  spinocerebellar ataxia type 21
GARD:0009999: 
MESH:C537200: 
Orphanet:98773: 
SCTID:718774001: 
UMLS:C1843891: 
UMLS:C4305144: