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Recessive mitochondrial ataxia syndrome

Disease definition

A rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.

ORPHA:94125

Classification level: Disorder
  • Synonym(s):
    • MIRAS
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent
  • ICD-10: G11.8
  • ICD-11: 5C53.21
  • OMIM: -
  • UMLS: C4760799
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

Detailed information

General public

Guidelines

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.