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Ataxia - oculomotor apraxia type 1

ORPHA1168
Synonym(s) AOA1
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • G11.3
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy.


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Detailed information

Clinical practice guidelines
  • DE (2008)
Clinical genetics review
  • EN (2010)
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