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It is worth noting that parents are only carriers of a gene disorder, and they themselves do not get sick. Vestibular ataxia - associated with lesions of the vestibular apparatus, as a result of which, among the signs of the disease, imbalance, nystagmus, nausea and vomiting, and problems with certain movements are noted.
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Friedreich's ataxia has a large number of specific clinical signs, which are usually divided into several groups: typical or neurological; extraneural; atypical. The typical form can manifest before the age of 20, and gender does not become a decisive factor. Experts from the field of neurology note that in women, the period of manifestation of the first symptoms occurs a little later than in men.
pain in the region of the heart; violation of heart rate; shortness of breath that occurs both after physical activity and at rest; Friedreich's foot - a high arch is noted, accompanied by hyperextension of the fingers in the main phalanges and flexion in the distal sections; kyphoscoliosis; clubfoot; deformity of the fingers of the upper and lower extremities; sexual underdevelopment; the appearance of signs of diabetes; weight gain; hypogonadism in men - female features are noted in appearance; ovarian dysfunction in women.
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Atypical Friedreich's ataxia is observed in individuals with a minor mutation of the 9th chromosome. This form of the disease is characterized by a later onset - at 30-50 years. This variety is distinguished by the fact that there are no: diabetes; paresis; heart disorders; areflexia; impossibility of self-service.
Despite the fact that theTheology has specific and pronounced clinical manifestations, in some cases there are problems with establishing the correct diagnosis. This is especially true in situations where the first signs of levaquin 250mg-500mg are extraneural symptoms - patients are mistakenly observed by a cardiologist or orthopedist for a long period of time and undergo useless diagnostic procedures.
Parents are partners in their child's therapy. We teach them how to include therapeutic strategies into their child's daily routine.
The basis of diagnosis is instrumental examinations, however, the procedures must be preceded by activities performed directly by a neurologist: studying the family history of the disease; familiarization with the patient's life history; assessment of reflexes and appearance of the limbs; measurement of heart rate; detailed survey - to establish the first time of occurrence and determine the severity of the clinical picture.
Laboratory studies are of secondary importance and are limited to a biochemical blood test. With Friedreich's ataxia, additional consultations of such specialists are required: cardiologist; endocrinologist; orthopedist; ophthalmologist.
Not the last place in the process of diagnosing is occupied by medical genetic counseling and complex DNA diagnostics. Manipulations are carried out on blood samples of the patient, his parents, siblings. The course of the disease can be detected even at the stage of levofloxacin - Friedreich's family ataxia in the fetus is detected during DNA tests of the chorionic villi, which is performed at 8–12 weeks of gestation or by examining the amniotic fluid at 16–24 weeks of gestation.
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Treatment involves following a sparing diet, the essence of which is to limit the intake of carbohydrates, since their excess can provoke an aggravation of symptoms. Surgical intervention is indicated only in cases where a person has pronounced bone deformities.