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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
- Article for general public
- English (2021, pdf) - ERN-RND
Guidelines
- Clinical practice guidelines
- Deutsch (2019, pdf) - ERN-RND
- English (2019, pdf) - ERN-RND
Disease review articles
- Clinical genetics review
- English (2019) - GeneReviews


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.