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autosomal recessive spinocerebellar ataxia 10

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.
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. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging.
Mondo Term and Equivalent IDs
MONDO:0013392:  autosomal recessive spinocerebellar ataxia 10
Orphanet:284289: 
UMLS:C3150998: