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Neural amyotrophy of Sharko-Mari-Tuta

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Neural amyotrophy of Sharko-Mari-Tuta — the progressing chronic hereditary disease with defeat of peripheral nervous system, leading to muscular atrophies of disteel departments of legs, and then and hands. Along with atrophies the gipesteziya and fading of tendinous reflexes, fastsikulyarny twitchings of muscles is observed. The electromyography, an elektroneyrografiya, genetic consultation and DNA diagnostics, a biopsy of nerves and muscles belong to diagnostic actions. Treatment symptomatic — courses of vitamin therapy, antikholinesterazny, metabolic, antioxidant and microcirculator therapy, LFK, massage, physiotherapy and balneotherapy.

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Neural amyotrophy of Sharko-Mari-Tuta

Neural amyotrophy of the Sharko-Mari-Tuta (SMT) concerns to group of the progressing chronic hereditary polyneuropathies which Russi-Levi's syndrome, a hypertrophic neuropathy of Dezherin-Sotta, Refsum's disease and other more rare diseases enter. The disease of Sharko-Mari-Tuta is characterized by autosomno-prepotent inheritance with a penetrantnost at the level of 83%. Also cases of autosomno-recessive inheritance meet. Males are ill more often than women.

According to various data neural amyotrophy of Sharko-Mari-Tuta meets frequency from 2 to 36 cases at 100 thousand population. Often the disease has family character, and at members of one family clinical manifestations can have various expressiveness. Along with it also sporadic options of ShMT are observed.

Communication of a disease of Sharko-Mari-Tuta and Fridreykh's ataxy is noted. In some cases at patients with ShMT typical symptoms of a disease of Fridreykh are noted over time and vice versa — sometimes after many years the clinic of an ataxy of Fridreykh is replaced by symptomatology of neural amyotrophy. Some authors gave descriptions of intermediate forms of these diseases. Cases when Fridreykh's ataxy was diagnosed for one family members, and at others — ShMT amyotrophy were observed.

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Pathogenetic aspects

Today the neurology as science has no authentic data on an etiology and pathogenesis of neural amyotrophy. The conducted researches showed that at 70-80% of patients from ShMT which underwent genetic inspection duplication of a certain site of the 17th chromosome was noted. It is defined that neural amyotrophy of Sharko-Mari-Tuta has several forms which are possibly caused by mutations of various genes. For example, researchers found out that at the ShMT form caused by a mutation of MFN2 gene coding mitochondrial protein there is a formation of the clot of mitochondrions breaking their advance on an axon.

It is established that the majority of the ShMT forms are connected with defeat of a myelin cover of fibers of peripheral nerves, forms meet pathology of axons less often — the axial cylinders passing in the center of nervous fiber. Degenerate changes affect also forward and back backs of a spinal cord, neurons of forward horns, Gaulle's ways (the spinal carrying-out ways of deep sensitivity) and Clark's columns relating to a back spinnomozzhechkovy way.

Again, as a result of dysfunction of peripheral nerves, the muscular atrophies affecting separate groups develop. Further progressing of a disease is characterized by the shift of the kernels of a sarkolemma, a gialinization struck and interstitsialny growth of connecting fabric. In the subsequent the accruing hyaline degeneration leads to their disintegration.

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Classification

In modern neurologic practice neural amyotrophy of Sharko-Mari-Tuta is subdivided into 2 types. Clinically they are almost uniform, however have a number of the features allowing to carry out such differentiation. Neural amyotrophy of the I type is characterized by essential reduction in the rate of carrying out a nervous impulse, at speed ShMT II of carrying out suffers slightly. The biopsy of a nerve finds a segmentary demiyelinization of nervous fibers, hypertrophic growth of not struck shvannovsky cages at the I type; at the II type — a degeneration of axons.

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Symptoms

Neural amyotrophy of Sharko-Mari-Tuta begins with development of symmetric muscular atrophies in disteel departments of legs. Initial symptoms demonstrate, as a rule, in the first half of the second decade of life, is more rare during from 16 to 30 years. They consist in increased fatigue of feet if necessary is long to stand on one place. At the same time the symptom of "trample" is observed - to remove fatigue of feet the patient resorts to walking on the place. In some cases neural amyotrophy demonstrates disorders of sensitivity in feet, is the most frequent — paresteziya in the form of crawling of goosebumps. A typical early sign of ShMT is absence Achilles, and later and knee tendinous reflexes.

The atrophies developing originally are mentioned first of all by abductors and razgibatel of foot. Svisany feet, impossibility of walking on heels also the peculiar gait reminding a vyshagivaniye of a horse — is result. Further the bringing muscles and sgibatel of foot are surprised. The total atrophy of muscles of foot leads to its deformation with the high arch, as Fridreykh's foot; molotkoobrazny fingers of foot are formed. Gradually atrophic process passes to more proximal departments of legs — shins and the lower parts of hips. The atrophy of muscles of a shin is resulted by the dangling foot. Because of an atrophy of disteel departments of legs at safety of muscle bulk of proximal departments of a leg get a form of the turned bottles.

Often at further progressing of a disease of Sharko-Mari-Tuta of an atrophy appear in muscles of disteel departments of hands — in the beginning in brushes, and then and in forearms. Because of an atrophy of a gipotenar and the tenor a brush to become similar to a monkey paw. Atrophic process never affects muscles of a neck, a trunk and a humeral belt.

Often neural amyotrophy of Sharko-Mari-Tuta is followed by easy fastsikulyarny twitchings of muscles of hands and legs. The compensatory hypertrophy of muscles of proximal departments of extremities is possible.

Touch violations at neural amyotrophy are characterized by a total gipesteziya, however superficial sensitivity (temperature and painful) suffers much more deep. Cyanosis and hypostasis of skin of the affected extremities is in certain cases observed.

For a disease of Sharko-Mari-Tuta typically slow progressing of symptoms. The period between a clinical demonstration of a disease from damage of legs and before emergence of atrophies on hands can make up to 10 years. Despite the expressed atrophies, patients a long time keep operating state. Various exogenous factors can accelerate progressing of symptoms: the postponed infection (measles, infectious , a rubella, quinsy, a SARS), overcooling, ChMT, a vertebral and spinal trauma, hypovitaminosis.

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Diagnostics

The age of the beginning of a disease, its typical clinic, the symmetric nature of defeat, slow steady distribution of atrophies and the symptomatology which is aggravated in this regard in many cases allow to assume neural amyotrophy. The inspection performed by the neurologist reveals muscular weakness in feet and shins, deformation of feet, absence or considerable decrease in Achilles and knee reflexes, a gipesteziya of feet. For differentiation of ShMT from other neuromuscular diseases (miotoniya, myopathies, the BASS, the neuropathy) carries out an electromyography and an elektroneyrografiya. For the purpose of an exception of a metabolic neuropathy blood sugar definition, a research of hormones of a thyroid gland, a drug test is carried out.

Consultation of the geneticist and performing DNA diagnostics is recommended to all patients for specification of the diagnosis. The last does not yield 100% of exact result since not all genetic markers of ShMT are still known. More exact way of diagnostics is the genome sekvenirovaniye entered in 2010. However this research is too expensive for wide use so far.

Sometimes there are difficulties in differential diagnosis of a disease of Sharko-Mari-Tuta with Dezherin's neuritis – Sotta, a disteel myopathy of Goffmann, chronic polyneuropathies. In such cases the biopsy of muscles and nerves can be required.

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treatment should be carried out only under the supervision of a doctor. Self-treatment is unacceptable!!!

At the present stage radical ways of treatment of gene diseases are not developed. In this regard symptomatic therapy is applied. Repeated courses of intramuscular introduction of vitamins of group B and vitamin E are conducted. For the purpose of improvement muscular traffic use ATP, inosine, cocarboxylase, glucose. Cholinesterase inhibitors are appointed (, oksazit, ), medicines for improvement of microcirculation and antioxidants (nicotinic acid, , meldoniya).

Along with pharmacotherapy according to the recommendation of the physiotherapist physiotherapeutic techniques are actively applied: electrophoresis, SMT, electrostimulation, diadinamoterapiya, mud cure, OUSE therapy, oksigenobaroterapiya. balneotherapy hydrosulphuric, sulphidic, coniferous is expedient, radonic medical bathtubs. In preservation of physical activity of patients, prevention of development of deformations and contractures LFK and massage have great value. If necessary the orthopedist appoints orthopedic treatment.

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Neural amyotrophy of Sharko-Mari-Tuta - treatment should be carried out only under the supervision of a doctor. Self-treatment is unacceptable!!!

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