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Symptoms of mitochondrial diseases
Last reviewed: 06.07.2025
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Mitochondrial diseases are characterized by a pronounced diversity of symptoms. Since the most energy-dependent systems are the muscular and nervous systems, they are affected first, and therefore the most characteristic symptoms develop.
- Symptoms of damage to the muscular system: myopathic syndrome and muscular hypotonia - weakness and atrophy of muscles, decreased muscle tone, muscle pain and spasms (cramps), children develop disorders of muscular activity (pain and weakness in muscles, headache and vomiting may appear after physical exertion).
- Symptoms of damage to the nervous system: delayed psychomotor development, regression of acquired skills, various types of seizures (tonic-clonic, myoclonic), respiratory or neurodistress syndromes (periodic apnea and tachypnea), repeated comatose states accompanied by blood acidosis and an increase in the concentration of ketone bodies, gait disturbance (cerebellar ataxia), in older children, stroke-like episodes, headaches, dizziness, peripheral neuropathies, athetosis.
- Symptoms of damage to the sense organs: the organ of vision (oculomotor disorders (ptosis, external ophthalmoplegia); atrophy of the optic nerves, pigmentary degeneration of the retina, cataracts, corneal opacity; in older children - hemianopsia (visual field defect), the organ of hearing (sensorineural deafness or hearing loss).
- Symptoms of damage to internal organs and systems.
- Heart: cardiomyopathy (dilated or hypertrophic cardiomyopathy), various heart blocks (damage to the cardiac conduction system).
- Liver: hepatomegaly or enlargement of the liver with impaired function up to the development of liver failure.
- Kidneys: tubular disorders such as De Toni-Debre-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, impaired sexual development, hypoglycemia, diabetes mellitus and diabetes insipidus, hypothalamic-pituitary syndrome with STH 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, the most important are poor tolerance of muscle load, impaired eye movement (ptosis, ophthalmoplegia), cardiomyopathy, stroke-like attacks, and retinitis pigmentosa. The appearance of these signs requires an in-depth examination using laboratory methods to exclude mitochondrial pathology.
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