Progression despite replacement of a myopathic form of coenzyme Q 10 defect
- 24 August 2004
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 63 (4) , 727-729
- https://doi.org/10.1212/01.wnl.0000134607.76780.b2
Abstract
The authors report 7 years of follow-up evaluation of a patient with coenzyme Q10 (CoQ10) deficiency. Initial symptoms of exercise intolerance and hyperlactatemia improved markedly with substitutive treatment. However, CoQ10 supplementation did not prevent the onset of a cerebellar syndrome. A switch to idebenone treatment resulted in clinical and metabolic worsening, which disappeared with subsequent CoQ10 treatment. CoQ10 defects may cause progressive neurologic disease despite supplementation.Keywords
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