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Mitochondrial myopathies: Treatment

Erin O'Ferrall, MD
Section Editors
Jeremy M Shefner, MD, PhD
Sihoun Hahn, MD, PhD
Deputy Editor
John F Dashe, MD, PhD


Mitochondrial diseases are present with a wide range of clinical phenotypes. The organ systems most reliant on aerobic metabolism are preferentially affected. Myopathy may be the sole or main sign, or merely an incidental finding associated with a multisystemic illness. Involvement of the nervous system in general (referred to as mitochondrial encephalomyopathy) is common. When skeletal muscle is affected, either alone or with central nervous system disease, the term mitochondrial myopathy is used. Although mitochondria are known to play a role in diverse cellular functions including redox balance, apoptosis, fatty acid oxidation, and calcium homeostasis, this review will focus on the treatment of mitochondrial diseases due to pathologic dysfunction of the mitochondrial respiratory chain.

The following groups illustrate the different ways mitochondrial myopathies can present clinically:

As chronic progressive external ophthalmoplegia (with or without mild proximal muscle weakness) or Kearns-Sayre syndrome

As an isolated myopathy with or without exercise intolerance and/or myalgia

As a severe myopathy or encephalomyopathy of infancy and childhood

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Literature review current through: Dec 2017. | This topic last updated: Aug 31, 2016.
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