Amyotrophy of neural Sharko-Marie( peroneal muscular atrophy) has the character of slow progression.
At the heart of the disease is the atrophy of the muscle fibers in the distal parts of the legs.
Refers to the category of diseases with a genetic predisposition. It is inherited for the most part by autosomal dominant and less often by autosomal recessive trait.
Fibers degeneration occurs in the peripheral nerves and their roots. There are cases of hypertrophic changes in the interstitial tissue. Mutation in muscles has a neurological basis. Atrophy individual muscle groups.
For the later form of the disease, hyaline degeneration and complete decay of muscle fibers are characteristic.
Often the disease is accompanied by significant changes in the spinal cord of .The area of the anterior horns is affected, as well as the lumbar and cervical parts, which breaks the nerve conduction in the spinal cord.
This condition is characteristic of the hereditary Friedreich ataxia.
Symptoms of the disease
In a larger percentage of cases, Charcot Marie's disease affects men.
The manifest of the disease, as a rule, refers to the age of 15 to 30 years. Very rarely the disease develops in the preschool period.
To start the disease characterized by such manifestations as weakness in the muscles, rapid fatigue in the legs. Patients can not stand in one place and to reduce tension in the muscles begin to trample on one point.
Other symptoms:
- the shape of the toes is bent, similar to a hammer;
- decreased sensitivity in the legs and feet;
- muscle cramps in the lower limbs and forearm;The
- person can not move his legs horizontally;
- often occur such manifestations as ankle sprain and fractures in the feet;
- sensitivity drop: inability to distinguish between vibration, cold and hot touch;
- violation of the letter;
- violation of fine motor skills: the patient can not fasten the button.
Primary degeneration affects the muscles of the shins and feet in a symmetrical type. Atrophy and muscles in the tibia. During such processes, the shape of the leg narrows sharply in the distal parts.
The legs look like the shape of an inverted bottle. In other words, they are called "stork's feet".There is a deformation of the feet. Parezy in the feet significantly change the nature of the gait.
The patient can not step on his heels and when walking, his legs are raised high. This gait is called stepping, which is translated from English as a "labor horse".
A few years after the onset of degeneration of the foot, the disease is revealed and distal parts of the hands, as well as in small muscles of the hands.
The patient's hands become like the curves of a monkey's hands. Muscle tone is weakened. The tendon reflexes have an uneven appearance in the 
.
The pathological symptom of Babinsky is noted. The level of achilles reflexes noticeably decreases. Only knee reflexes and reflexes of the three- and biceps muscles of the shoulder remain preserved for a long time.
There are such trophic disorders as hyperhidrosis and hyperemia of the hands and feet. The patient's intellect, as a rule, does not suffer.
Proximal parts of extremities are not subject to degenerative changes. The atrophic process does not extend to the muscles of the trunk, neck and head.
Total atrophy of the calf muscles leads to a dumbbell syndrome.
It is interesting that in spite of the expressed degeneration of muscles, patients can retain their ability to work even for a while.
Diagnosis of the disease
The diagnosis is based on the study of the genetics of the sick person and the features of the manifestation of the disease. The doctor should carefully inquire about the symptoms and history of the disease, examine the patient.
Nervous and muscle reflexes are necessarily checked. With these goals, EMG is used to record the conductivity of nerves.
DNA analysis and a general blood test are prescribed. If necessary, a biopsy of nerve fibers is performed.
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Approach to treatment
Treatment is performed in accordance with the available symptoms of neural amyotrophy Sharko Mari Tuta. The activities are complex and lifelong.
It is important to optimize the functional parameters of patient coordination and mobility. Medical measures should be aimed at protecting weakened muscles from trauma and reducing sensitivity.
Relatives of the patient should help him in every way in the fight against this ailment. After all, treatment is carried out not only in medical institutions, but also at home.
All prescribed procedures must be carried out rigorously and conducted on a daily basis. Otherwise, there will be no results from the treatment.
Amyotrophy treatment includes a variety of techniques:
- physiotherapy procedures;
- occupational therapy;
- complex of physical exercises;
- special support devices for feet;
- orthopedic insoles for correction of deformed foot;
- foot care;
- regular consultation with the attending physician;
- application of orthopedic surgical operations;
- injections of B vitamins;
- administration of vitamins E, A, C.
Additionally used:
- For amyotrophic lesions of , a specific diet of is prepared. It shows the consumption of foods with a high-grade protein content, patients adhere to the potassium diet, must consume more vitamins.
- In the regressive nature of the course of the disease , along with the above-mentioned means mud, rhodonic, coniferous, sulphide and hydrogen sulfide baths are appointed. The electrophoresis procedure stimulating the peripheral nerves is applied.
- When the mobility in the joints is distorted and the skeleton is distorted, the orthopedic correction is shown.
To relieve the emotional state of the person who is ill, psychotherapeutic conversations are required.
At the heart of the treatment is the use of tools that help improve trophic performance and impulse transmission through nerve fibers.
Medical treatment
For this purpose, the use of such drugs as:
- glutamic acid;
- aminalon;
- dibasol;
- biostimulators of anabolic hormones;
- often resort to the use of adenosine triphosphate, cocarboxylase, cerebrolysin, riboxin, phosphaden, carnitine chloride, methnonine, leucine;
- good results are provided by means optimizing blood microcirculation: nicotinic acid, xanthinal nicotinate, nikospan, pentoxifylline, parmidin;
- for the improvement of conductivity in the nerves prescribe anticholinesterase drugs: galantamine, oxazil, pyridostigmine bromide, staphaglabine sulfate, amiridine.
Complications of the disease
The result can be an absolute loss of the ability to walk. There may be signs such as severe loss of touch, and also deafness.
Prevention of
Disease Prevention is the requesting a consultation with the geneticist .It is timely to do vaccines against poliomyelitis and tick-borne encephalitis.
Preventing the development of early deformation of the foot is wearing comfortable orthopedic shoes.
Patients should visit a specialist in diseases of the stop - podiatrist, who can in time prevent changes in trophic soft tissue, and if necessary, prescribe appropriate drug therapy.
Difficulties walking in walking can be corrected by wearing special suspenders ( ankle-foot orthoses).They can control the flexion of the leg and shin from the back, eliminate the instability of the ankle and improve the balance of the body.
Such a device allows the patient to move without the help of others and prevents undesirable falls and injuries. Foot fixators are used in the hip stop syndrome.
Abroad, a system of measures to help patients and their families "a world without illness Sharko Mari Tuta" is widely developed.
Various specialized organizations, societies and foundations function. Constantly conducted research work on the search for new methods of treatment of this disease.
Unfortunately, there are no such institutions on the territory of the Russian Federation, but studies in the field of studying and searching for optimal methods of treatment are conducted and quite actively.
Such programs work in the research institutes of Bashkortostan, Voronezh, Krasnoyarsk, Novokuznetsk, Samara, Saratov and Tomsk.
