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Spinocerebellar ataxia type 38

^ http://www.ebi.ac.uk/efo/EFO_0009056


Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. [ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern ]

Synonyms: SCA38

Term info

database cross reference
  • OMIM:615957 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
  • Orphanet:423296 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
term editor

Hannah McLaren

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