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spinocerebellar ataxia type 19/22

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.
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. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis.
Mondo Term and Equivalent IDs
MONDO:0011819:  spinocerebellar ataxia type 19/22
GARD:0012365: 
MESH:C537198: 
MESH:C542540: 
Orphanet:98772: 
SCTID:719251009: