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This disease most often begins in childhood, in the 1st or 2nd decade of phenergan (although there are cases when it is detected after 20 years). Usually several family members suffer from ataxia - brothers, sisters, and in most cases it occurs in families with consanguineous marriage. Symptoms appear imperceptibly, the disease progresses slowly, lasts for decades and without medical assistance causes significant discomfort.

The main symptom of Friedreich's ataxia is the unsteady gait of the patient. He walks clumsily, puts his feet wide and sweepingly deviates from the center to the sides. When the disease progresses, the hands, as well as the muscles of the chest and face, are affected by coordination disorders. Facial expressions change, speech slows down, becomes jerky. Tendon and periosteal reflexes decrease or disappear (first on the legs, then spread to the arms is possible). Hearing is often impaired. scoliosis progresses.

This type of ataxia is hereditary, chronic type, progressive in nature. It belongs to spinocerebellar ataxias, which are a group of similarly symptomatic diseases caused by damage to the cerebellum, brainstem, spinal cord and spinal nerves, which often interferes with the correct diagnosis.

However, among cerebellar ataxias, Friedreich's disease is distinguished by the presence of a recessive form, while other types are transmitted in an autosomal dominant manner. That is, a sick child is born in a couple where the parents are carriers of the pathogen, but are clinically healthy.

This ataxia is manifested by a combined degeneration of the lateral and posterior columns of the spinal cord, caused by an enzymatic-chemical anomaly of an unexplained nature, inherited. When the disease affects the bundles of Gaulle, the cells of the pillars of Clark and the posterior spinocerebellar pathway.

If the patient has Friedreich's ataxia, the symptoms that are most often noticed first are awkwardness and uncertainty when walking, in particular in the dark, staggering, stumbling. Then this symptom is joined by discoordination of the upper extremities, weakness of promethazine pills of the legs. At the beginning of the disease, a change in handwriting, dysarthria, in rEchi observed the nature of explosiveness, staccato.

Extraneural manifestations and other symptoms of ataxia. Friedreich's disease is characterized by skeletal deformities. Patients are prone to scoliosis, kyphoscoliosis, deformities of the fingers and toes. The so-called Friedreich's foot (or Friedreich's foot) is a feature in Friedreich's ataxia disease.

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Photos of such feet give a clear understanding that such a deformity is not typical for a healthy body: the fingers are overbent in the main phalanges and bent in the interphalangeal joints with a high concave arch of the foot. The same change can occur with brushes.Lachelle, CDC Rehab

Also, patients are prone to endocrine diseases: they often have such disorders as diabetes mellitus, ovarian dysfunction, infantilism, hypogonadism, etc. Cataracts are possible from the organs of vision.

If Friedreich's ataxia is diagnosed, then in 90 percent of cases it will be accompanied by heart damage, the development of progressive cardiomyopathy, mainly hypertrophic. Patients complain of pain in the heart, palpitations, shortness of breath during exercise, etc.

Sydney and Allyson swingingIn almost 50 percent of patients, cardiomyopathy causes death. In the late stage of the disease, patients have amyotrophies, paresis, impaired hand sensitivity. Hearing loss, atrophy of the optic nerves, nystagmus are possible, the functions of the pelvic organs are sometimes disturbed and the patient suffers from urinary retention or, conversely, urinary incontinence.

Over time, patients lose the ability to walk and serve themselves without assistance. However, paralysis resulting from any type of ataxia, including Friedreich's disease, was not noted.Donte having a ball



 

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