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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.
José MilisendaMedical internal
What are mitochondria?
Mitochondria are small cell structures found in the cytoplasm that are responsible for generating most of the chemical energy needed by the cell to activate biochemical reactions. The chemical energy produced by the mitochondria is stored in a molecule known as adenosine triphosphate (ATP).
Types of Mitochondrial Myopathies or Encephalomyopathies
The most frequent are:
Kearns-Sayre syndrome. The symptoms of this syndrome include drooping eyelids, retinal alterations, and heart blocks that require pacemakers, among other things.
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).
MELAS syndrome. The symptoms are similar to those of a stroke, sometimes with seizures, muscle weakness and retarded growth.
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.
Published: 24 November 2020
Updated: 24 November 2020
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