Catalog

Cerebellar atrophy - ataxia - seizures

No MMS code

Link to WHO Definition

Cerebellar atrophy - ataxia - seizures – http://id.who.int/icd/entity/1244147456

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.