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Children's geneticist, children's doctor

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Symptoms of mitochondrial diseases

Alexey Portnov, medical expert
Last reviewed: 23.04.2024

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Mitochondrial diseases are characterized by a pronounced variety of symptoms. Since the most volatile systems - the muscular and nervous systems, they are affected in the first place, so the most characteristic symptoms develop.

Symptoms of the defeat of the muscular system: myopathic syndrome and muscle hypotension - muscle weakness and atrophy, decreased muscle tone, muscle aches and spasms (krumchi), children develop muscle disorders (after physical exertion, pain and weakness in the muscles, headache and vomiting ).
Symptoms of nervous system damage: delay in psychomotor development, regression of acquired skills, various types of seizures (tonic-clonic, myoclonic), respiratory or neurodistress syndromes (periodic apnea and tachypnea), repeated coma, accompanied by acidosis of blood and increased concentration of ketone bodies, violation gait (cerebellar ataxia), in older children, stroke-like episodes, headaches, dizziness, peripheral neuropathies, athetosis.
Symptoms of the defeat of the senses: the organ of vision (oculomotor disorders (ptosis, external ophthalmoplegia), atrophy of the optic nerves, pigmentary degeneration of the retina, cataract, corneal opacity, in older children - hemianopia (defect of the visual field), hearing (neurosensory deafness or hearing loss ).
Symptoms of damage to internal organs and systems.
- Hearts: cardiomyopathy (dilated or hypotrophic cardiomyopathy), various heart block (damage to the conduction system of the heart).
- Liver: hepatomegaly or enlargement of the liver with a violation of its functions until the development of liver failure.
- Kidneys: tubular disorders according to the type of De-Tony-Debreu-Fanconi syndrome (increased excretion of glucose, amino acids and phosphates).
- Gastrointestinal tract: repeated attacks of vomiting, diarrhea with dysfunction of the pancreas; celiac-like syndrome.
- Blood systems: pancytopenia, macrocytic anemia.
- Endocrine system: growth retardation, sexual development disorder, hypoglycemia, sugar and diabetes insipidus, hypothalamic-pituitary gland syndrome with thyroid deficiency, thyroid dysfunction, hypothyroidism, hyperparathyroidism, hyperaldosteronism.

Thus, in mitochondrial pathology, a large number of organs and systems are involved in the pathological process. Experience shows that among the clinical symptoms of greatest importance are poor tolerance of muscular load, violation of eye movement (ptosis, ophthalmoplegia), cardiomyopathy, stroke-like attacks, retinitis pigmentosa. The appearance of these signs requires an in-depth examination using laboratory methods to exclude mitochondrial pathology.

trusted-source [1], [2], [3], [4], [5]

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