" /> Cerebellar atrophy - ataxia - seizures - CISMeF





Preferred Label : Cerebellar atrophy - ataxia - seizures;

ICD-11 definition : 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.;

ICD-11 synonym : Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive ataxia due to coenzyme Q10 deficiency;

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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.

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07/05/2025


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