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  • These are the main causes of the development of spironolactone ataxia, as a result of which the genes encoding ferroxidase and permease are activated, which, like frataxin, are responsible for the transport of iron.
  • This leads to even greater accumulation in the mitochondria.
  • Heredity is due to the so-called Friedreich's disease gene, presumably found in the centomeric region of the 9th chromosome at the locus 9ql3 - q21.
  • Several mutations of one gene can occur, which is what causes different forms of aldactone pills. Friedreich's ataxia occupies half of the cases of ataxia.
  • The first signs appear before the age of 20, much less often up to 30.

The disease affects the neurons of the central and peripheral nervous system, but medicine has no explanation, the reason why only the pathways of the spinal cord are damaged in the nervous system. In other systems, no less important organ cells are exposed to the disease, these are myocardial cells, β - cells of the islets of Langerhanz in the pancreas, cells of the retina and bone tissues.

It occurs equally often in both women and men, only representatives of the Negroid race are not affected by this disease. 

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Friedreich's ataxia in its expanded form is characterized by neurological disorders typical of ataxias and total areflexia. Violated joint-muscular and vibrational sensitivity, muscle hypotension, Babinsky's symptom. Gradually develops sensitive and cerebellar ataxia, atrophy and weakness of the muscles of the legs. In 90% of patients, extraneural manifestations are manifested, these are heart lesions, endocrine disorders, cataracts. Progressive cardiomyopathy develops, it can be either hypertrophic or dilated. In this case, there are such symptoms of Friedreich's ataxia as pain in the region of the heart, palpitations, systolic murmurs, shortness of breath. Endocrine diseases such as diabetes mellitus, hypogonadism, infantilism, ovarian dysfunction are characteristic.

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