Coenzyme Q10 Deficiency, Primary, 4

Alternative Names

COQ10D4
Spinocerebellar Ataxia, Autosomal Recessive 9
SCAR9

Associated Genes

Coenzyme Q8A

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WHO-ICD-10 version:2010

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

OMIM Number

612016

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q42.13

Description

Primary coenzyme Q10 deficiency-4 (COQ10D4) is an autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Some affected individuals develop seizures and have mild mental impairment, indicating variable severity. Oral coenzyme Q10 supplementation does not result in significant improvement of neurologic symptoms. [From OMIM]