Neural muscular atrophy

August 12, 2017 17:51 | Genetic Diseases

Neural muscular atrophy are diverse in its manifestations, and genetic defects heterogeneous group of diseases, which is characterized by multiple lesions of the peripheral nerves.For the first time the disease has been allocated by the French neurologist Charcot and Marie in 1886 r., And in the same year, the British neurologist described tute, in honor of which it is at present, the disease is referred to as Charcot-Marie-Tooth disease.

The incidence of disease in the population ranges from 1 to 15 cases per 100 000 population with a higher concentration of affected families in some isolated populations (United States, South Africa).Sharko- Disease Marie-Tooth disease can be transmitted in an autosomal dominant, autosomal recessive, and meshed with the female X-linked inheritance type.

first signs of the disease, Charcot-Marie-Tooth arise aged 10-20 years.After 30 years, the disease is rare, but some cases are asymptomatic until late age.Early symptoms of the disease, Charcot-Marie-Tooth disease is f

atigue in the leg muscles under static load (prolonged sitting, and so on. D.), Long walking, running.There are difficulties in straightening toes, tendon reflexes are reduced or disappear around (especially ankle reflex), there is difficulty in walking on your heels and feet deformity.Gradually increasing weakness and atrophy of the muscles of the legs, then hands (a few years), extending from the fingertips towards the body, begin to droop foot, gait changes, increasingly acquiring a characteristic type of "cock".With long-term course of the disease due to the atrophy of the muscles of the lower leg thinner and reminiscent of the "stork legs", and hips take the form of "inverted bottles."Progressive deformation of the feet leads to difficulty in the selection of shoes.Subsequently, there is the difficulty of mobility in the ankle joint, making it difficult to squat on the full foot and standing.Formed sensitivity disorders in the form of the appearance of pain of different nature, numbness, tingling, pins and needles (paraesthesia), painful muscle contractions.In the shins and forearms decreased pain and temperature sensitivity, and the sensitivity of muscles, joints and tendons to various stimuli, especially to vibrations.In 25-30% of cases when the disease, Charcot-Marie-Tooth disease type I with careful examination revealed an increase in the sizes of peripheral nerves, in particular a large surface of the ear and peroneal nerves.Characterized by disorders of the autonomic nervous system and blood vessels, which is manifested excessive sweating and lowering the temperature of the palms and soles, skin bluish coloration of fingers and feet, tip of the nose and ears.The disease is slowly progressive.Sick people seldom lose their ability to independent movement.In 10% of persons suffering from the disease of Charcot-Marie-Tooth, all manifestations of the disease are expressed minimally, and pathology is recognized only when a thorough examination in hospitals.

Combinations disease Charcot-Marie-Tooth disease with slowly increasing violation of voluntary movements of the limbs, impaired vision due to optic atrophy, with retinitis pigmentosa (see. Hereditary eye disease).

special form of nervous system pathology is considered Refsum disease (IV type of the disease, Charcot-Marie-Tooth disease).This disease is due to excessive accumulation of phytanic acid in the body, which is the result of the enzyme defect, taking part in her cleavage.The hereditary nerve disease with predisposition to paralysis first manifested before the age of 20 years.The most commonly affected peroneal and ulnar nerves, but in the pathological process may involve the brachial plexus and the cranial nerves.Usually there is good recovery of the affected nerve function.

The main symptoms of the disease, Charcot-Marie-Tooth, which leave no doubt that hereditary diseases are:

1) the presence of repeated cases of violence;

2) the appearance of the first signs of the disease at the age of 10 to 20 years;

3) weakness and atrophy of muscles;

4) structurally unstable sensory disturbances;

5) foot deformity;

6) reduction in conduction velocity on the peripheral nerves, which is determined in the study in the specialized neurological centers and hospitals;

7) signs of loss of membrane of nerve fibers, as determined under section study of peripheral nerve biopsy method;

8) slowly progressive course;

9) positive results in DNA research.

Effective treatment of disease, Charcot-Marie-Tooth disease is absent.Apply anticholinesterase drugs, vitamins, drugs that enhance metabolism (vitamin E, kokarboksilaza, aktovegin, Essentiale), as well as tools to improve blood circulation in the small vessels (Trental).Assign repeated courses of physiotherapy, massage limbs, magnetic therapy, laser therapy, electrophoresis, or benzogeksony pentamin at the chest and waist, acupuncture, laser acupuncture, local barotherapy lower extremities, muscle electrostimulation.If necessary, we recommend orthopedic correction, which is achieved by wearing special shoes.In marked difficulty of motion in joints produce transection of tendons (tenotomy) or carry out a surgical operation in which the bones are fixed in the joint, which leads to restriction of movement in the joint.The aim of this treatment is to restore the lost function of limbs after a while.It is also recommended spa treatment with mud baths and spa facilities.