Symptoms and treatment for spinal amyotrophy, werdnig Hoffman

Spinal amyotrophy, werdnig Hoffman is a rare disease that occurs in the neuromuscular system of a person. This disease appears as a consequence of different mutations. Doctors believe that the main cause of spinal amyotrophy is a bad heredity.

Types and causes of disease

The Signs of illness will completely vary depending on the severity of the disease. Doctors conventionally divided spinal muscular atrophy at 4 degrees of severity. Note that all 4 types share a common feature – the patient experiencing a mental development. Spinal-muscular atrophy at any stage can cause dysfunction of various organs located in the pelvic region.

The Main cause of the disease lies in genetics bad. Numerous scientific studies have shown that atrophy of the dorsal division appears due to a mutation in the fifth chromosome of man. Gene changes responsible for the synthesis of special protein responsible for the normal development of motor neurons. Due to the fact that these neurons are not able to fully perform all of its functions, the person will begin to atrophy the muscles of the body.

Doctors say that the disease can appear in the child only if the incorrect gene is present in both the father and the mother. In addition, doctors say that every second person on earth is a carrier of the gene wrong.

Symptoms in the first and second form of the disease

Spinal amyotrophy, werdnig-Hoffmann type 1 most often appears in the first 6 months of a child's life. In some cases, the disease can be detected during diagnostics during labor. At 1 stage the child reduced tone muscle fibers and the tendon reflexes may be absent at all. Sometimes suffers function of swallowing. Language, as a rule, also atrophies. At 1 stage the child is disturbed digestive function. Because of this, food can be a choking hazard. The respiration is also disturbed, because of this may appear as a pulmonary embolism.Also in children with spinal amyotrophy 1 degree disrupted development and motor skills there is a deformity of the chest. According to statistics, if the disease begins to progress immediately after birth, a baby dies in the first 3-4 months of life.

When spinal atrophy 2 extent of child anxiety symptoms appear only after 6 months after birth. Initially the patient appears muscle atrophy of the thighs. The tendon reflexes are gradually blunted. The facial muscles are usually not affected by atrophy. In some cases, in a patient having tremors in the hands and breathing is impaired. The neck muscles also become weak. Over time the patient appears scoliosis or hip dislocation. Children with spinal atrophy 2 degrees more exposed to pathogenic infections due to the fact that respiratory function is impaired. With delayed treatment, the patient may die from suffocation.

Symptoms in the third and fourth form of the disease

Spinal amyotrophy, verdniga-Hoffmann 3 stage appears usually in adolescence. The characteristic symptom in this type of the disease is the intermittent walk. The reason is that the muscle tone in the legs is sharply reduced. This is due to the fact that the muscle fibers become thinner. The patient may frequently stumble or even fall. Over time the patient may stop walking. Sometimes the atrophy appears in the muscles of the arms. The facial expressions of the patient is violated. The skeleton is undergoing change. The patient has a deformed chest and disrupted joints. In rare cases, the patient's normal breathing.

Spinal amyotrophy, verdniga-Hoffmann stage 4 appears, usually in adulthood. The characteristic symptom at this stage of the disease – the emergence of weakness in the legs. The patient may complain of severe pain in the muscles. Over time the leg muscles begin to atrophy, and reflexes become dull. The progression of spinal muscular atrophy, leads to the fact that the patient ceases to walk. With 4 degrees of respiratory function does not change. The muscles of the hands are full. Doctors believe that 4 type of disease is benign.

Diagnosis and treatment of the disease

If the person had first symptoms of spinal atrophy, he is prescribed a comprehensive diagnosis. First, the patient must undergo electroneuromyography. By using this procedure doctors can detect abnormalities in functioning of neurons. After that the patient should undergo genetic study. When carrying out this procedure, physicians examine data, obtained from DNA of the patient. A genetic test allows to detect mutations in chromosome 5.

If women have close relatives who are illthis disease, during pregnancy she should hold a special prenatal diagnostics. If the fetus is abnormal, you may need a forced abortion.

Spinal atrophy is not exposed to the treatment. However, you can ease the state of patient with the help of special medicines that improve the metabolic processes in the nervous tissues. Therapy Supplement vitamins of group B, the course of anabolic steroids, physical therapy and physical therapy.

Additional sources:

1. 1.Su N. Y., Hung C. C., Lin S. Y., Chen Y. F., Chern, J. P., Tsai C. screening for spinal muscular atrophy (SMA) // Public Library of Science
2. 2. Sugarman, E. A., Nagan, N., Zhu, H., Akmaev, V. R., Zhou Z., Rohlfs, E. M., Flynn K., Hendrickson, B. C., Scholl, T., Sirko-Osadsa D. A., and Allitto, B. A. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis European journal of human genetics.
3. 3.Spinal atrophy I, II, III, IV type... // Center of molecular genetics, Medical genetic research center.