Mitochondrial Myopathy

What is mitochondrial myopathy?

Mitochondrial myopathy affects the mitochondria — the tiny energy-producing structures that serve as “power plants of the cell.”

The term refers to a group of muscle disorders, including:

  • Kearns-Sayre syndrome (KSS)
  • Leigh’s syndrome
  • Mitochondrial Depletion syndrome (MDS)
  • Mitochondrial Encephalomyopathy
  • Lactic Acidosis and Stroke-like episodes (MELAS)
  • Myoclonic epilepsy with Ragged Red Fibers (MERRG)
  • Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE)
  • Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP)
  • Pearson syndrome
  • Chronic Progressive External Opthalmoplegia (CPEO)

Some types of mitochondrial myopathy are inherited, while some are sporadic (the mutation only occurs in the affected person; it was not inherited and will not be passed onto children). These disorders are caused by a defect in either a mitochondrial gene or a gene in the cell nucleus that affects the functioning of the mitochondria.

Symptoms may include:

  • nervous system impairment
  • eye problems
  • hearing issues
  • cardiac irregularities
  • skeletal muscle abnormalities
  • gastrointestinal tract disorders
  • muscle weakness and pain
  • fatigue
  • lack of endurance
  • poor balance
  • difficulty swallowing

Treatment may include:

  • hearing aids
  • medication
  • surgery
  • specialized glasses
  • assistive devices
  • speech therapy
  • diet modification
  • respiratory support

Some patients report minor improvement in symptoms when taking a supplement “cocktail” of Creatine, L-carnitine, and coenzyme Q10.


Fact Sheet on Mitochondrial Myopathy


Useful Links

Muscular Dystrophy Association (USA)

Mitochondrial myopathies section.


Hosts monthly teleconferences with a specialist regarding treatment options for specific symptoms and other concerns for people affected by mitochondrial myopathy.

United Mitochondrial Disease Foundation

Provides news and information about issues relating to mitochondrial disease research and clinical care.  The UMDF also holds an annual international symposium that brings together physicians, researchers, patients and family members.

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