Friedreich's ataxia

June 9th, 2011

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Friedreich's ataxia   - A hereditary disease of the nervous system, an autosomal recessive mode of inheritance. The disease is characterized by a syndrome of defeat rear and side ropes of the spinal cord, often in the lumbosacral segments, cell death pillars Clark   and dorsal spinocerebellar tract. In the later stages are characterized by degeneration of the nuclei of cranial nerves, dentate nucleus, the legs of the cerebellum, several cells are less likely to suffer cerebral hemispheres.

Causes of Friedreich's ataxia

Development of the disease is due to imbalance of intracellular iron, its highest concentration in the mitochondria causes an increase in free radicals that destroy the cells. The imbalance occurs when the failure or distortion of the structure of proteins synthesized in the cytoplasm - frataxin . This protein is responsible for the transportation of iron from the mitochondria, the accumulation of which in excess of the norm is no reduction tsitoznogo iron.

These are the main causes of Friedreich's ataxia, which are activated as a result of genes encoding ferroxidase   and permeases Which, as frataxin responsible for iron transport.
This leads to further accumulation in the mitochondria. Heredity is caused by so-called gene disease Friedreich's ataxia allegedly showing up in tsentnomernoy region of chromosome 9 locus 9ql3 - q21. There may be several mutations of a single gene, than, and are caused by different forms of the disease. Friedreich's ataxia occupies half the cases of ataxia. The first symptoms appear before the age of 20 years were significantly less likely to 30. There is equally common in women and men, are not exposed to the disease only blacks

The disease affects neurons of the central and peripheral nervous systems, but the medicine has no explanation, the reasons why in the nervous system are damaged only pathways of the spinal cord. In other systems, the disease affects not less important cells of this myocardial cells, β - Langergantsa islet cells in the pancreas, retinal cells and bone tissue.

The disease is constantly progressing. If there is no adequate treatment of Friedreich's ataxia Duration of the disease not to exceed 20 years. And started to show the awkwardness and uncertainty in walking, dysarthria After a while completely deprives a person normally coordinate movement and move independently. The disease leads to death in rare cases, in the absence of such manifestations as the diabetes   and heart disease patients live up to 70-80 years.

Symptoms of Friedreich's ataxia

The first symptoms of the disease is the oppression of Achilles and knee reflexes. These symptoms appear within a few years before the appearance of the other, as vulnerable to manifestations is rheumatic heart disease That is often treated as a separate condition. So it is not considered that the symptoms of Friedreich's ataxia until neurological disorders. There is a gradual skeletal deformations such as scoliosis, a deformity of the fingers and toes, "stop Friedreich's ataxia," in which there is an abnormal extension of the fingers in the proximal phalanx, and the foot has a high concave arch.

Friedreich's ataxia in expanded form is characterized by typical ataxias neurological disorders and total areflexia . Violated joint and muscular and vibration sensitivity, muscular hypotonia, Babinski. Gradually developing sensitivity and cerebellar ataxia Atrophy and weakness of the leg muscles.

In 90% of patients manifest extraneural manifestation is heart disease, endocrine disorders, cataract . By progressive cardiomyopathy It may be both hypertrophic and dilated. In this scenario, you experience the symptoms of Friedreich's ataxia such as heart pains, palpitations, systolic murmurs, breathlessness . Characterized by endocrine diseases, such as diabetes, hypogonadism, infantilism , Ovarian dysfunction.

Late stage is characterized by ataxia amitrofiey   disorder and deep sensitivity, the disappearance of the tendon and periosteal reflexes. What applies to the upper limbs. There is a deep decay of motor function, because of which a person loses the ability to walk and take care of themselves. Kyphoscoliosis develops with the formation of the hump deformity of the hands. From extraneural manifestations may, there is nystagmus, hearing loss, optic atrophy, dysfunction of the pelvic organs, Dementia . The progressive cardiomyopathy during the later stages of the disease is the cause of death in half of the patients, most often because of irregularities in the wire system of the heart. By the immediate cause of death as are pulmonary insufficiency and infectious complications.

Diagnosis Friedreich's ataxia

Computed tomography of the brain, which remains the main diagnostic ataxias ineffective in this disease, a number of changes can be found only in the later stages. This is due to a spinal localization changes, so can be detected only a slight degree of atrophy of the cerebellum in the early stages, and atrophy of the cerebral hemispheres, the expansion of stem tank, the lateral ventricles and the subarachnoid space of the two hemispheres in the later stages. Early diagnosis of Friedreich's ataxia is produced using MRI Which enables to detect the atrophy of the spinal cord, and in the advanced stage, and moderately severe atrophy of the bridge, the cerebellum and the medulla oblongata. At the initial stage electrophysiological study must be conducted when such studies established the severity of the sensitivity of the nerves of the extremities.

For a complete diagnosis carried out stress tests of glucose tolerance, x-ray of the spine. The first diagnosis that aims to accurately establish the diagnosis of the disease and differentiate from others with similar symptoms. For example, the symptoms of Friedreich's ataxia can be the same as hereditary ataxia deficiency Vitamin E . syndrome Bass Korntsveyga , Of inherited metabolic diseases, such as Krabbe's disease   and Niemann-Pick disease . A similar symptoms and may be multiple sclerosis Except tendon areflexia, hypotonia and extraneural manifestations. Not typical for Friedreich's ataxia presence of remissions and density variations of the brain that occurs in the diagnosis of multiple sclerosis.

To differentiate the disease is assigned a number of additional laboratory tests. Conducted DNA testing and genetic screening, blood lipid profile, blood smear analysis for the presence of vitamin E deficiency and acanthocytes . Treatment of Friedreich's ataxia did not lead to full recovery, but timely prevention avoids the development of many symptoms and complications. Diagnosis Friedreich's ataxia by DNA testing should be assigned not only to the patient and family, and to determine the inheritance of the disease, it is necessary for the prevention, treatment and preventive purpose.

Treatment of Friedreich's ataxia

To slow the progression of the disease are appointed drugs mitochondrial series . antioxidants   and other drugs which reduce the accumulation of iron in the mitochondria.

Assigned antioxidants such as Vitamins A   and E And synthetic substitutes Coenzyme Q 10 - idebenone Which inhibits neyrodegenrativny process and the development of hypertrophic cardiomyopathy. Appointed as 5-hydroxypropane Which gives good results, but it requires further research.

In general, treatment is symptomatic, it should eliminate the symptoms of Friedreich's ataxia as diabetes . diseases of the cardiovascular system . Held as surgical correction of the feet and the introduction of botulinum toxin in spastic muscles.

Physical therapy   and physiotherapy   - Procedures, without which the treatment of Friedreich's ataxia is most often ineffective. Regular sessions provide an opportunity to keep the body in good shape and eliminate pain. Patients require social adaptation, as many have to live in a state of helplessness. Loss of vision, the possibility to move independently, loss of coordination creates psychological disorders that should be addressed with the help of professionals and support for families.