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Mitochondrial Myopathies

Mitochondrial Myopathies

They include several diseases of mitochondria, the organs of the cells responsible for energy production. By this term we refer to the following muscle abnormalities:

  • Kearns Syndrome - Sayre (KSS)
  • Leigh's Syndrome
  • Mitochondrial Depletion Syndrome (MDS)
  • Mitochondrial encephalomyopathy
  • Lactic acidosis with stroke-type episodes (MELAS)
  • Myoclonic epilepsy (MERRG)
  • Mitochondrial neurotrophic encephalopathy syndrome (MNGIE)
  • Neuropathy, ataxia and retinitis pigmentosa (NARP)
  • Pearson's Syndrome
  • Chronic evolutionary external ophthalmoplegia (CPEO)

Many genes are involved in either mitochondrial or nuclear genetic material and mutations may result in this condition, which are either inherited either by the mother or by both parents respectively, or they may be sporadic.


Some of the symptoms that may occur are:

Nervous system damage, ocular (eg cataracts) and acoustic problems, cardiac dysfunction, skeletal muscle abnormalities and muscle weakness, gastrointestinal disorders, muscle pain, fatigue and lack of endurance, inability to balance, difficulty in swallowing, learning difficulties, ataxia and seizures .



  • Clinical examination by specialist physicians and neurologists,
  • Muscle biopsy,
  • Genetic test,
  • CT and MRI,
  • ECG,
  • Electrocardiogram and ultrasound of muscles,
  • Control of liver and kidneys through blood tests.



There is no cure, but the treatment of individual symptoms. Indicatively, the following interventions are included: use of hearing aids and spectacles, appropriate medication (eg. for treating crises and pain), the use of ancillary means of movement (eg use of a club, a wheelchair), occupational and speech therapy, temporary or permanent respiratory support, dietary supplements (eg creatine, L-carnitine, coenzyme Q10).

To monitor clinical trials on the diseases, visit:


  • A. W. El-Hattab, F. Scaglia, Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations and Therapeutic Options, Neurotherapeutics, 2013, 10, p. 186–198.
  • Santorelli F.M., Tessa A., Neuropathy, Ataxia and retinitis pigmentosa (NARP) syndrome, Orphanet Encyclopedia, 2004.
  • Muscular Dystrophy Association, About Neuromuscular Diseases, June 08, 2017,

Muscular Dystrophy Association