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Hereditary Friedreich's ataxia in most cases is complicated by chronic heart failure, as well as all types of respiratory failure. In addition, patients have a very high risk of Viagra infectious diseases. Criteria for the diagnosis of Friedreich's ataxia. The main diagnostic criteria for the disease are indicated quite clearly: In this case, DNA diagnostics confirms the presence of a defective gene.
When it comes to a disease such as Friedreich's ataxia, diagnosis should include taking an anamnesis, conducting a complete medical examination and studying the medical history of sildenafil 50mg and his family. Particular attention during the examination is paid to problems with the nervous system, in particular, poor balance, when the gait and statics of the child are examined, the absence of reflexes and sensations in the joints. The patient is unable to touch the opposite knee with the elbow, misses the finger-nose test, and may suffer from tremors with outstretched arms.
When conducting laboratory studies, there is a violation of the metabolism of amino acids. An electroencephalogram of the brain with Friedreich's ataxia reveals diffuse delta and theta activity, and a reduction in the alpha rhythm. Electromyography reveals axonal-demyelinating lesions of sensory fibers of peripheral nerves. Genetic testing is done to detect the defective gene. With the help of Sildenafil diagnostics, the possibility of inheriting the pathogen by other children in the family is established. Comprehensive DNA diagnostics for the whole family can also be carried out.
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In some cases, prenatal DNA testing is necessary. During diagnosis and in the future after diagnosis, the patient is required to regularly take x-rays of the head, spine, and chest. If necessary, computed and magnetic resonance imaging is prescribed. On MRI of the brain, in this case, one can notice atrophy of the spinal cord and brain stems, the upper sections of the cerebellar vermis. An examination with the help of ECG and EchoEG is also necessary.
Differential diagnosis. When making a diagnosis, it is necessary to differentiate Friedreich's disease from multiple sclerosis, neural amyotrophy, familial paraplegia and other types of ataxia, primarily Louis Bar disease, the second most common ataxia. Louis-Bar's disease, or telangiectasia, also begins in childhood and differs clinically from Friedreich's disease in the presence of an extensive expansion of small vessels, the absence of skeletal anomalies.
- It is also necessary to distinguish the disease from the Bassen-Kornzweig syndrome and ataxia caused by vitamin E deficiency.
- In this case, when diagnosing, it is necessary to determine the content of vitamin E in the blood, the presence / absence of acanthocytosis and examine its lipid spectrum.
- At the time of diagnosis, it is necessary to exclude metabolic diseases with an autosomal recessive type of inheritance, accompanied byI have spino-cerebellar ataxia of other forms.
- The difference between multiple sclerosis and Friedreich's disease is the absence of tendon areflexia, with it there is no muscle hypotension and amyotrophy.
- Also, with sclerosis, extraneural manifestations are not observed, there are no changes on CT and MRI.
- Patients diagnosed with Friedreich's ataxia should be treated by a neurologist.
To a greater extent, treatment is symptomatic, aimed at maximizing the removal of the manifestations of the disease. It includes general strengthening therapy, including the appointment of ATP preparations, cerebrolysin, B vitamins, and anticholinesterase agents. In addition, drugs with the function of maintaining mitochondria, such as succinic acid, riboflavin, vitamin E, play an important role in the treatment of viagra pills ataxia. Riboxin, cocarboxylase, etc. are prescribed to improve myocardial metabolism.
Fortifying treatment with vitamins is carried out. Treatment should be repeated periodically. Since the main cause of pain in the disease is progressive scoliosis, patients are shown wearing an orthopedic corset. If the corset does not help, a number of surgical operations are performed (titanium rods are inserted into the spine to prevent further development of scoliosis).