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Does the Patient Have a Mitochondrial Encephalomyopathy?

From the Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, sd12{at}columbia.edu

Eduardo Bonilla, MD

From the Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY

Darryl C. De Vivo, MD

From the Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, Department of Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY

The ubiquitous nature of mitochondria, the dual genetic control of the respiratory chain, and the peculiar rules of mitochondrial genetics contribute to explain the extraordinary clinical heterogeneity of disorders associated with defects of oxidative phosphorylation (mitochondrial encephalomyopathies). To provide a practical approach to the diagnostic challenge posed by these conditions, we critically review the following criteria: (1) clinical presentation; (2) family history; (3) laboratory data; (4) neuroradiologic patterns; (5) standardized exercise testing; (6) muscle morphology; (7) muscle biochemistry; and (8) molecular genetic screening. Judicious sequential application of these tools should provide help in recognizing patients with mitochondrial disease and define the biochemical and molecular basis of the disorder for each patient. This knowledge is indispensable for accurate genetic counseling and prenatal diagnosis and is a prerequisite for the development of rational therapies, which are still woefully inadequate. (J Child Neurol 1999;14(Suppl 1):S23-S35).

Journal of Child Neurology, Vol. 14, No. 1 suppl, S23-S35 (1999)
DOI: 10.1177/0883073899014001051


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