Charcot-Marie-Tooth neural amyotrophy is a chronic genetic disease with a progressive course associated with damage to the peripheral parts of the nervous system, which subsequently leads to atrophy of muscle tissue in the distal regions of the lower extremities, and subsequently of the hands. At the same time, hypesthesia appears, tendon reflexes fade, fascicular muscle twitching occurs.
To identify such a pathology and confirm an accurate diagnosis, a number of procedures are performed. In the future, only complex symptomatic treatment is prescribed, which includes vitamin and physiotherapy, special drugs.
Classification
By hereditary amyotrophy is understood a number of pathological conditions in which motor functions are impaired, sensitive lesions appear. In the International Classification of ICD-10, they are offered a single code - G12.
Due to the fact that the disease is genetically transmitted and hereditary, etiological treatment is considered impossible. A complex of various secondary pathologies caused by such an ailment (this applies to retinitis, deafness, ataxia, etc.), is treated with special supportive agents.
What is related
The following are related to muscle-type neural amyotrophy:
- Degerin-Sott syndrome. Changes of a hypertrophic type in the membranes of nerve fibers are characterized. Because of this, the severity of the clinical picture is gradually increasing. Pathology is associated with sensory-type neuropathy.
- Charcot-Marie-Tooth disease
- Verdnig-Hoffman spinal muscular atrophy . So called changes of a degenerative type in the trunk, the horny part of the spinal cord. The syndrome is early and late, as well as congenital.
- Atrophy of Klberg-Velander. This pathology is characterized by the gradual destruction of motor neurons. Atrophic disorders of the horny growths of the spinal cord gradually appear. Symptoms are muscle twitching.
- Other amyotrophies of genetic origin. This group includes the New England, scapular-fibular, malignant neurogenic.
Differential diagnosis is required, as there are pathologies with similar or very similar clinical manifestations. Moreover, their treatment is completely different.
Varieties
There are 2 varieties of Sharko-Marie-Tooth syndrome of neural amyotrophy. The first type is associated with changes in the characteristics of signal transport along the nerves due to the destruction of their myelin layer.
The second variety involves preserving this capable, but it can be found that the axons of the Schwann cell structures are damaged. It is required to determine the morphological form of the disease at an early stage - before complications appear.
Pathogenesis
Charcot-Marie-Tooth syndrome is a genetic ailment that is characterized by a violation of the structure of the shells of the nerve trunks, due to which the ability to transport signals along them is lost. This usually causes motor and sensory disturbances in the limbs. Although in more complex cases, the syndrome also affects the nerve structures that regulate respiratory functions.
A slowly progressive hereditary degenerative disease was named after the three doctors who described it first. It was revealed that it is transmitted by different methods - autosomal recessive, dominant.
Charcot-Marie-Tooth syndrome is quite common. It is found in one person among 50,000. Quite often, such a disease is diagnosed in several people in the same family. In this case, the manifestations of pathology in them may differ. The risk of a sick newborn in the family is 50%.
Features
At the moment, neurology as a science does not have reliable data on the causes of neural amyotrophy, including Charcot-Marie-Tooth syndrome.
Studies have shown that in 75% of patients with this pathology who underwent genetic analysis, duplication of the short arm of the 17th chromosome is noted. It was revealed that neural amyotrophy manifests itself in several forms, so that, most likely, they are caused by mutations of different genes.
For example, scientists learned that with a variant of the syndrome caused by changes in the mitochondrial protein of a particular gene, a cluster of mitochondria forms, which disrupts their axon transport.
It was revealed that most varieties of Charcot-Marie-Tooth neural amyotrophy are associated with disorders of the myelin layer of nerve fibers in the peripheral system. In more rare cases, axon problems are encountered. This is the axial, central part in the nerve fiber.
Changes of a degenerative type can also affect the roots of the spinal cord, nerve cells of the anterior horny growths, conducting channels of the spinal cord with increased and deep sensitivity, and the back of the spinal cord.
Secondly, due to functional disorders of peripheral nerves, atrophy of muscle tissue develops. The disease progresses further. Because of this, connective tissue grows. In the future, the severity of such a clinical picture only grows. Tissue degeneration increases.
Provocative factors
However, it is necessary to take into account the provocative factors of Charcot-Marie-Tooth syndrome. Primarily, these include measles, rubella, and mononucleosis of an infectious origin.
In addition, this applies to acute forms of respiratory infections of the viral type, hypovitaminosis, severe cooling. All these nuances must be taken into account.
Symptoms
Usually, the first symptoms of neural amyotrophy occur in adolescence - from the age of 15 to 20 years. Less commonly, signs appear in young children. The onset of Charcot-Marie-Tooth syndrome is progressing gradually. Progression will be stable, but not fast.
First of all, fatigue of the muscles of the lower extremities appears. A person gets tired even just standing in one place, because of which he decides to just walk around in one area. This phenomenon is called a stamping symptom. Then signs of sensory disturbances gradually appear. Usually at the initial stage it is a sensation of creeps on the body or an individual limb. Paresthesia is not excluded.
As the disease progresses, atrophy of muscle tissue develops. Gradually, it only intensifies. In this case, in the region of the leg, the muscles sharply become smaller. Because of this, the legs look like a bottle, which was turned upside down.
Atrophy of muscle tissue appears evenly on both sides. The foot is also deformed, the functionality of its muscles is disrupted. The lower leg takes the form of a clawed paw. Because of this, it becomes difficult to walk or just stand in one place. The patient manifests a gait characteristic of such a disease. The rise of the knee becomes higher than usual.
A few years after the first signs of the disease appear, damage to the nerve fibers of the upper extremities begins. Changes are dystrophic and uniform on both sides. They touch brushes to a greater extent. The latter change shape and resemble the fingers of a monkey. In addition, tremors often appear in patients, muscles twitch. Deep reflexes fall unevenly.
The disease progresses further with damage to the muscles of the remaining parts of the body. The back is bent, deformed. At the same time, Charcot-Marie-Toot neural amyotrophy does not affect the intellectual abilities of the victim. The patient remains able-bodied for a long time. The condition may become worse due to excessive loads, viral diseases, hypothermia, injuries, poisoning.
Diagnostics
Charcot-Marie-Tooth neural amyotrophy is suggested by the appearance of symmetrical muscle damage in adolescence. The doctor conducts a neurological examination, during which their atrophy, impaired motor and sensory functions are revealed. Charcot-Marie-Tooth syndrome needs to be distinguished from other varieties of neural amyotrophy, and it itself - from various pathologies of the neuromuscular type. This applies to amyotrophic lateral sclerosis, peripheral neuropathy, myasthenia gravis.
Quite often, DNA analysis is required to clarify the diagnosis. To detect disorders in neuromuscular conduction, electroneuromyography is necessary. It allows you to determine the decrease in the speed of the pulse.
In some cases, an additional biopsy of a nerve or muscle is performed. Histological analysis allows you to determine demyelination of nerves, atrophy of muscle fibers.
Treatment
Pathogenetic therapy of amyotrophy is absent. Only symptomatic treatments for neural amyotrophy are performed.
They include the following:
- Measures to improve muscle nutrition. The doctor is prescribed courses of vitamin-containing products, cocarboxylase, carnitine, cortexin, ATP.
- Stimulation of nerve conduction. For this, "Nivalin", "Proserin" are used.
- Normalization of blood flow. To do this, use such drugs for neural amyotrophy, which contain nicotinic acid. As a rule, this is Galidor, Trental. Cholinesterase inhibitors (Neostigmine, Galantamine) are also prescribed, the instructions for use of which must be observed.
- Physiotherapy. The doctor prescribes electrophoresis using Prozerin, electromyostimulation, amplipulse.
- Balneotherapy. The doctor prescribes special therapeutic baths.
- Therapeutic gymnastics and massage. They are necessary to prevent deformation of the hands, feet, and spine.
- Wearing special shoes. It is selected by an orthopedist individually for each patient.
Recommendations
You can slow the progression of the disease. This implies a lifestyle change.
First, you need to exercise regularly. But only those varieties are suitable where there are no excessive loads. Ideal options are cycling, hiking, swimming.
Secondly, physical overwork should not be allowed, so the profession should be appropriate.
Thirdly, comfortable shoes are required. In addition, it is necessary to switch to a proper, healthy, balanced diet. Obesity should not be allowed. If necessary, lose weight.
Conclusion
Charcot-Marie-Tooth disease is a chronic hereditary pathology with progressive development, which is characterized by damage to the peripheral zones of the nervous system. Because of this, the muscles of the legs atrophy in the distal zone, and then the arms, atrophy. Tendon reflexes may be impaired. Muscle twitching sometimes occurs.
In such a disease, when the diagnosis is confirmed, only symptomatic therapy is carried out, which includes taking appropriate medications (including Galantamine, the instructions for use of which should be strictly observed), vitamins, as well as physiotherapeutic treatment. Therapy must be comprehensive. In general, the prognosis is relatively favorable if all the conditions and recommendations of the doctor are observed.