Does the Patient Have a Mitochondrial Encephalomyopathy?

Author:

DiMauro Salvatore1,Bonilla Eduardo2,De Vivo Darryl C.3

Affiliation:

1. From the Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, sd12@columbia.edu

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

3. 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

Abstract

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).

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Reference50 articles.

1. DiMauro S., Bonilla E.: Mitochondrial encephalomyopathies, in Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL (eds): The Molecular and Genetic Basis of Neurological Disease, 2nd ed. Boston, Butterworth-Heinemann , 1997, pp 201-235.

2. DiDonato S.: Diseases associated with defects of beta-oxidation, in Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL (eds): The Molecular and Genetic Basis of Neurological Disease, 2nd ed. Boston, Butterworth-Heinemann , 1997, pp 939-956.

3. De Vivo DC, Hirano M., DiMauro S.: Mitochondrial disorders, in Vinken PJ, Bruyn GW (eds): Neurodystrophies and Neurolipidoses . Amsterdam, Elsevier, 1996, pp 389-446.

4. Schon EA: The mitochondrial genome, in Rosenberg RN , Prusiner SB, DiMauro S, Barchi RL (eds): The Molecular and Genetic Basis of Neurological Disease. Boston, Butterworth-Heinemann, 1997 , pp 189-200.

5. Mitochondrial DNA and Diseases of the Nervous System: The Spectrum

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