Cerebellar atrophy - ataxia - seizures (Q94017)
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Autosomal recessive ataxia due to ubiquinone deficiency is a mitochondrial disease characterised by childhood-onset progressive ataxia and cerebellar atrophy. Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1244147456 |
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| English | Cerebellar atrophy - ataxia - seizures |
Autosomal recessive ataxia due to ubiquinone deficiency is a mitochondrial disease characterised by childhood-onset progressive ataxia and cerebellar atrophy. Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present. |
