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The course of the disease is constantly progressive. If there is no adequate treatment for Friedreich's ataxia, the duration of the disease does not exceed 20 years. Symptoms of Friedreich's ataxia.
The late stage of ataxia is characterized by amytrophy and a disorder of deep sensitivity, the disappearance of tendon and periosteal reflexes. That extends to the upper limbs. There is a deep disintegration of motor functions, due to which a person loses the ability to walk and serve himself. Kyphoscoliosis develops with the formation of a hump, deformity of the hands. Of the extraneural manifestations, there may be nystagmus, hearing loss, atrophy of Zocor pills nerves, dysfunction of the pelvic organs, dementia. Progressive cardiomyopathy in the later stages of the disease is the cause of death in half of the patients, most often due to disorders in the wire system of the heart. Immediate causes of death also include pulmonary insufficiency and infectious complications. Diagnosis of Friedreich's ataxia.
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Computed tomography of the brain, which remains the main diagnosis of ataxia in this disease, is ineffective, a number of changes can be detected only in the later stages.
This is due to the spinal localization of Simvastatin, therefore, only a mild degree of cerebellar atrophy at an early stage and atrophy of the hemispheres, expansion of the stem cisterns, lateral ventricles and subarachnoid space of both hemispheres at later stages can be detected. Early diagnosis of Friedreich's ataxia is made using MRI, which makes it possible to detect atrophy of the spinal cord, and at an advanced stage, and moderately pronounced atrophy of the bridge, cerebellum and medulla oblongata. At the initial stage, an electrophysiological study is mandatory, with such studies, the severity of damage to the sensitivity of the nerves of the limbs is established.
For a complete diagnosis, load tests of glucose tolerance, Simvastatin examination of the spine are performed. First of all, the diagnosis is aimed at accurately establishing the diagnosis and differentiating the disease from others with similar symptoms. For example, the symptoms of Friedreich's ataxia can be the same as hereditary ataxia with vitamin E deficiency, Bassen-Kornzweig syndrome, hereditary metabolic diseases such as Krabbe disease and Niemann-Pick disease.
Similar symptoms can be with multiple sclerosis, with the exception of tendon areflexia, muscle hypotension and extraneural manifestations. Not typical for Friedreich's ataxia is the presence of remissions and changes inthe specificity of the substance of the brain, which is observed in the diagnosis of multiple sclerosis.
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To differentiate the disease, a number of additional laboratory tests are also prescribed. DNA testing and medical genetic counseling, blood lipid profile, blood smear analysis for vitamin E deficiency and acanthocytes are carried out. Treatment of Friedreich's ataxia does not lead to a complete recovery, but timely prevention makes it possible to avoid the development of many symptoms and complications. Diagnosis of Friedreich's ataxia using DNA testing should be prescribed not only to the patient, but also to relatives to determine the heredity of the disease, this is necessary for the prevention and prescribing of preventive therapy.