Diagnosing Mitochondrial Myopathies or Encephalomyopathies
The diagnosis is made according to the symptoms and signs presented by the patient, although for a definitive diagnosis a series of complementary tests must be carried out:
Muscle biopsy. In this case, a biopsy should be obtained from the affected organ, brain, muscle, or retina, for example, but when this is not possible, a muscle biopsy is performed. This procedure is used to diagnose diseases that affect the muscle tissue. In this biopsy, a cell type known as ragged-red fibres is usually found, which is very suggestive of the disease, but not conclusive.
Study of the mitochondrial respiratory chain (MRC). By means of a sophisticated laboratory technique, it is possible to demonstrate the malfunction of one or more of the five complexes of this chain (designated using Roman numerals from I to V).
Molecular study. Mutations can be found in mitochondrial DNA and also in nuclear DNA. Depending on the disease, they can be tested in blood, urine, or other tissues.
Substantiated information by:
Published: 24 November 2020
Updated: 24 November 2020
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