Flomax pills (magnetic resonance imaging) - even in the early stages, diffuse atrophy of the spinal cord is detected, a little later, cerebellar atrophy can be detected; electroneuromyography - a moderate decrease in the action potential along motor fibers is detected, a pronounced (up to complete disappearance) decrease in the action potential along sensitive conductors; ECG, ultrasound of the heart, stress tests - for the diagnosis of heart damage; a blood test for sugar and an assessment of glucose tolerance - to detect latent diabetes mellitus; X-ray of the spine; to reliably confirm the diagnosis, DNA diagnostics is used - blood samples are subjected to a polymerase chain reaction and the presence of a mutation is detected.
Click here to learn about usTo confirm the diagnosis of Friedreich's ataxia, the doctor takes into account the autosomal recessive type of inheritance, the onset in adolescence or youth, the combination of ataxia with areflexia, impaired deep sensitivity, weakness and atrophy of tamsulosin of the legs and arms, skeletal deformities, endocrine disorders and cardiomyopathy.
Today, thanks to new technologies, prenatal diagnosis of Flomax mutations, including Friedreich's ataxia, has become possible, which allows carriers of pathological genes to have healthy offspring. Surgical correction of deformities of the feet and spine is performed.
At the same time, diabetes mellitus and cardiomyopathy are treated by an endocrinologist and a cardiologist. Cataracts underare subject to surgical treatment by ophthalmologists. Exercise therapy and massage are necessary for patients to maintain motor activity and muscle strength. Sometimes physical therapy allows you to eliminate pain in the muscles for a long time without the use of painkillers.
Friedreich's ataxia is a genetic disease associated with a violation of the transport of iron from mitochondria and occurs with a predominant lesion of cells of the central and peripheral nervous system, cardiomyocytes, β-cells of the pancreas, cells of bone tissue and retina.
Read MoreFriedreich's ataxia is diagnosed using MRI of the brain and spinal cord, neurophysiological studies, and genetic diagnostics. Additionally, an ECG, an ultrasound of the heart, a study of the hormonal background, and an x-ray of tamsulosin are performed. Friedreich's ataxia is treated with metabolic and symptomatic drugs, diet, regular exercise therapy. Surgical treatment is used to eliminate bone deformities.