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GTR Home > Conditions/Phenotypes > Autosomal recessive ataxia due to ubiquinone deficiency

Autosomal recessive ataxia due to ubiquinone deficiency

Synonyms
CABC1-Related Coenzyme Q10 Deficiency; Coenzyme Q10 deficiency, primary, 4; Spinocerebellar ataxia, autosomal recessive 9
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen. [from GeneReviews]

Available tests

48 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADCK3, ARCA2, CABC1, COQ10D4, COQ8, SCAR9, COQ8A
    Summary: coenzyme Q8A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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