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spinocerebellar ataxia type 23

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
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. SCA23 is an adult-onset autosomal dominant form characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria.
Mondo Term and Equivalent IDs
MONDO:0012449:  spinocerebellar ataxia type 23
GARD:0009950: 
MESH:C537201: 
Orphanet:101108: 
SCTID:718772002: 
UMLS:C1853250: 
UMLS:C4305146: