What are Mitochondrial Myopathies or Encephalomyopathies?

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Mitochondrial myopathies or encephalomyopathies are neurological diseases which as well as affecting muscles, also involve alterations in the nervous system. The symptoms are highly variable and can appear at any age. The causes of these diseases are genetic.

Mitochondrial myopathies or encephalomyopathies explained in first person

Professionals and patients explain how you live with the disease
As the years pass, we are finding out more and more about these diseases. At the moment, we believe that, relatively soon, there will be advances in gene therapy. This is not currently a reality, but I believe that it will be in the near future.

Types of Mitochondrial Myopathies or Encephalomyopathies

The most frequent are:

Drooping eyelid

Kearns-Sayre syndrome. The symptoms of this syndrome include drooping eyelids, retinal alterations, and heart blocks that require pacemakers, among other things.

Lying down with convulsions

MERFF syndrome. This is associated with a particular form of epilepsy involving movements known as myoclonus (rapid, sudden spasms (contractions) of a muscle or group of muscles).

Brain with an area signalled by cerebral infarction

MELAS syndrome. The symptoms are similar to those of a stroke, sometimes with seizures, muscle weakness and retarded growth.

Blood test tube with a low red blood cell count or anemia

Pearson Syndrome. This is associated with a type of anaemia known as sideroblastic anaemia, where the bone marrow produces ring sideroblasts (red blood cell precursors that accumulate iron in the form of rings) and there are pancreatic alterations. This type of anaemia, in which iron is not properly incorporated into young red blood cells, is relatively common in older people and forms part of the so-called myelodysplastic syndromes. When this type of anaemia is diagnosed in a young person it suggests a mitochondrial problem.

How many people does it affect?

The prevalence of MELAS syndrome is 5-10 cases per million people. 

Kearns-Sayre syndrome affects 5-10 people per 100,000 and the prevalence of MERRF syndrome is not known with precision.

Información general de Muscular diseases or Myopathies

Consulta toda la información relacionada con Muscular diseases or Myopathies

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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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