Treatment of Mitochondrial Myopathies or Encephalomyopathies

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None of the treatments tested have been robustly proven to be effective, as these are very rare diseases and no studies include enough cases to determine the effectiveness of the therapies. Even so, treatment with Coenzyme Q10, L-carnitine, riboflavin, and L-arginine is recommended, either alone or in combination.

Pharmacological treatment

One pharmacological treatment that has shown a certain degree of efficacy is that used to treat MELAS syndrome, involving the chronic administration of L-arginine with Coenzyme Q10.

Treatment with growth hormone is useful in cases of MELAS in which this disorder occurs, although it only improves weight or stature, not the disease itself.

Symptomatic treatments are also given, anti-epilepsy, when there are attacks of this nature, pacemakers when there are heart blocks, hearing aids when deafness is disabling, and blood transfusions in the case of sideroblastic anaemia.

New therapies

Gene therapy may become available in the medium term as an apparently curative treatment for these diseases. In fact, there are already recent studies of other diseases that have demonstrated the safety and moderate efficacy of this type of therapy (repairing a gene, introducing it through a vector).

Treatment complications

In some cases, there is some digestive intolerance, with abdominal pain and diarrhoea, but this is not significant enough to stop the treatment.

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Substantiated information by:

Jose César Milisenda
Josep M. Grau Junyent

Published: 24 November 2020
Updated: 24 November 2020

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