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Friedreich's Ataxia Associated With Mitochondrial Myopathy: Clinicopathologic Report

Department of Neurology University of Wisconsin Madison, Wisconsin

Andrew J. Waclawik, MD

Department of Neurology University of Wisconsin Madison, Wisconsin

Brad R. Beinlich, MD

Department of Neurology University of Wisconsin Madison, Wisconsin

Cary O. Harding, MD

Department of Pediatrics Oregon Health Sciences University Portland, Oregon

Richard M. Pauli, MD, PhD

Departments of Pediatrics and Medical Gene University of Wisconsin Madison, Wisconsin

Josée Poirer, BSC

Department of Medicine Centre Hospitalier de l'Université de Montréal Montréal, Québec

Massimo Pandolfo, MD

Department of Medicine Centre Hospitalier de l'Université de Montréal Montréal, Québec

M. Shahriar Salamat, MD, PhD

Department of Pathology University of Wisconsin Madison, Wisconsin

A 13-year-old boy with clinical and electrophysiologic findings of Friedreich's ataxia developed unusually prominent myopathy. Skeletal muscle biopsy showed mitochondrial proliferation and structural abnormalities. No mutation was found in skeletal muscle mitochondrial DNA to explain this finding. Molecular genetic and pathologic studies confirmed a diagnosis of Friedreich's ataxia in the proband and affected relatives. Although the Friedreich's ataxia phenotype results from decreased expression of a mitochondrially targeted protein, frataxin, mitochondrial myopathy has not been described as a feature of the disease. The association between the frataxin gene mutation and mitochondrial myopathy in this case suggests that severe or cumulative insults to mitochondrial function may produce myopathic changes in some cases of Friedreich's ataxia. The patient also responded clinically to carnitine supplementation, suggesting a potential palliative therapy for the disease. (J Child Neurol 2002;17:453-456).

Journal of Child Neurology, Vol. 17, No. 6, 453-456 (2002)
DOI: 10.1177/088307380201700612


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