Amyotrophy is the treatment of disease. Symptoms and prevention of the disease amyotrophy

The concept of "spinal amiotrofii" unites group of diseases, общая черта которых – гибель двигательных нервных клеток (neurons) spinal cord. This is accompanied by weakness in muscles, as well as the development of the main symptom-amiotrofii (thinning of the muscles).

Amyotrophy-causes

Spinal amiotrofii are genetic diseases. As a result of the genetic defect occurs the loss of motor neurons, that eventually leads to a decrease in muscle tone, the emergence and development of muscle weakness.

Identify the following types of inheritance of this pathology:

• autosomal recessive;
• X-linked.

Amyotrophy-Symptoms

Spinal amiotrofii include the following symptoms:

• decreased muscle tone;
• symmetric progressive muscle weakness and thinning of the muscles. These symptoms in childhood forms, primarily, occur in the muscles of the legs, but after spreading to pelvic girdle muscles, back, trunk (including the respiratory muscles), Neck, the pharynx and tongue. When an adult form of shoulder girdle muscles suffer first, после – все остальные;
• in the development of muscle weakness initially find it difficult, but after becoming impossible ambulation, walking, maintenance head;
• flattening of the thorax as a result of the weakness of the respiratory muscles;
• Ventricular muscles of tongue, limbs;
• violation of posture as a result of weakened back muscles;
• When developing weakness of muscles of the pharynx swallowing violation occurs;
• gait disturbance, that develop as a result of the weakness of the Vastus lateralis, pelvic girdle.

Amotrofii Diagnostics

Diagnosis includes the anamnesis and complaints of the patient. Necessarily clarified, whether similar symptoms in someone from relatives, What is the right age to start mark reduced muscle tone, appearing weak muscles and observed their thinning.

Also conducted neurological examination: determined, If the twitching of the tongue, violations of swallowing; evaluated muscle tone, muscular strength; sets the number of involved in the pathological process of muscle groups.

Biochemical blood test detects an increase in the concentration of kretininfosfokinase (This symptom is characteristic for the collapse of muscle fibers).

Electroneuromyography helps identify signs of motor neurone lesion and degeneration (breaking changes) muscle fibers.

Using x-rays can detect curvature of the spine (arises from lesions of the back muscles).

Также может выполняться генетическое обследование – генетическое тестирование, aimed at detecting changes in a gene 5q11 2-13 3.

Amyotrophy is a kind of disease

There are several forms of spinal amiotrofii depending on the timing of its occurrence:

– детские:

• type 1 (Verdniga-Hoffmann): This form is evolving to six months of age of the child and is characterized by extremely unfavorable prognosis;
• type 2 (Interim): This form occurs in children over 1,5 year, characterized by unfavorable prognosis;
• type 3 (Kugel'berga-Welander Disease): This form occurs in children 5-7 years, characterized by more favourable prognosis and slow flowing.

– взрослые:

• Spinal x-concatenated amyotrophy Kennedy: occurs in men aged 40-60 years. Characterized by impairment of oesophageal, weakness and thinning of the muscles of the shoulder girdle.

Amyotrophy patient actions

In the case of characteristic symptoms (muscle weakness, their thinning), seek medical advice.

Treatment amiotrofii

Spinal amiotrofii are genetic diseases. Completely cure them is currently impossible. Slowing down the pace of development of spinal amiotrofii can be achieved with therapy.

Treatment of spinal amiotrofij includes b vitamins and drugs, improve the trophism (nutrition) нервной ткани – нейротрофиков. Also in the schema therapy include therapeutic physical training-special complexes of exercises help slow down thinning inactive muscles. Besides, shows the massage.

The patient with spinal amiotrofiej it is necessary to ensure the rational and equitable, as well as frequent and fractional power (5-6 every day in small portions).

Complications of amotrofii

Complications of spinal amiotrofij include stagnant pneumonia (develop as a result of the weakness of the respiratory muscles).

When spinal amyotrophy there is a high probability of death as a result of secondary infectious complications.

Amyotrophy-Prevention

Prevent spinal amiotrofii is not possible, because this pathology is genetic (hereditary).

Now it is possible to conduct medical-genetic counselling married couples, planning conception of the child.