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spinocerebellar ataxia type 13

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of 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. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Mental retardation can be present in some patients.
Mondo Term and Equivalent IDs
MONDO:0011529:  spinocerebellar ataxia type 13
GARD:0009611: 
MESH:C537195: 
Orphanet:98768: 
SCTID:719209002: 
UMLS:C1854488: 
UMLS:C4304884: