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Start free with EleplanRecessive mitochondrial ataxia syndrome
ORPHA:94125Disease
Also called MIRAS
What it is
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.
Key facts
- Age of onset
- Adolescent, Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Common30–79%
21- Abnormality of central motor conduction
- Abnormality of movement
- Areflexia
- Ataxia
- Atypical behavior
- Cognitive impairment
- Dysmetria
- Dysphagia
- Gait disturbance
- Generalized hypotonia
- Hashimoto thyroiditis
- Headache
- Impaired vibratory sensation
- Increased circulating pyruvate concentration
- Limb dysmetria
- Ophthalmoplegia
- Peripheral neuropathy
- Positive Romberg sign
- Seizure
- Sensory axonal neuropathy
- ST segment elevation
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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