Overview Mitochondrial myopathy

Mitochondrial myopathy – or mitochondrial disease – is an umbrella term for conditions caused by faulty mitochondria.

There are several different types, including:

  • Kearns-Sayre syndrome (KSS)
  • chronic progressive external ophthalmoplegia (CPEO)
  • Leber hereditary optic neuropathy (LHON)
  • mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
  • myoclonus epilepsy associated with ragged-red fibres (MERRF)
  • Leigh disease
  • Mitochondrial DNA depletion syndrome, including Alpers syndrome.

Mitochondria are small structures found inside our cells that are responsible for energy production. Just like a power generator, they take in fuel (the food we eat) and use oxygen to convert it into energy. If this process fails, the cell is unable to work properly and this can lead to mitochondrial disease.

Mitochondrial disease can affect many different parts of the body, particularly those that require a lot of energy such as muscle, brain, nerve, heart, liver and pancreas. Some people with mitochondrial disease have muscle weakness, and they may be given the diagnosis of mitochondrial myopathy