There are a large number of pathologies of the nervous system, the study of which was simultaneously carried out by several specialists. Charcot's disease, or rather Charcot-Marie-Tooth disease (sometimes there is a variant of writing without a hyphen - Charcot Marie Tooth) was no exception. Each of these doctors, whose names were included in the name of the disease, made an invaluable contribution to the description of this nosology. Its main manifestation is atrophy of the peroneal muscle in the legs, decreased reflexes and sensitivity. And among the main features, one can distinguish a different degree of severity of symptoms even in members of the same family, despite the hereditary nature of the syndrome.
The most common forms of Charcot's disease Marie Tooth
Charcot Marie Tooth illness belongs to the category hereditary neuropathies, which are characterized by damage to the fibers of the peripheral nervous system, both sensory and motor. You can often find other names for pathology. For example, peroneal or neural Charcot-Marie amyotrophy.
This nosology is considered one of the most common representatives of hereditary diseases, as it occurs in 25-30 people per 100 thousand of the population.
In modern neurology, there are 4 variants of the disease... But most likely this is not the final number. After all, all types of mutations in genes that can lead to disease are still not known.
Charcot syndrome of the first (or demyelinating) type occurs in 60% of patients. He makes his debut before the age of twenty, more often even in the first years of a child's life. The disease is transmitted autosomal dominantly. The second variant of the pathology, also called axonal and occurs in 20% of casesis inherited in the same way. That is, when one of the parents is sick, the children will in any case “get” this genetic “breakdown” and it will then develop into a disease. But in the latter type of amyotrophy, the manifestation of symptoms is sometimes delayed until 60-70 years.
These two types of Charcot Marie Tooth's disease differ in that the first one destroys the myelin sheath of the nerve, and the second one damages the axon first.
The third variant of pathology is one that is dominantly inherited through the X chromosome. Moreover, in men, symptoms are more pronounced than in women. Thinking about this version of the doctor's syndrome will force the information that signs of the disease are found in men not in every generation of the family.
Type 4 neural amyotrophy is considered demyelinating and is inherited in an autosomal recessive manner., that is, there is a chance of having healthy children from sick parents.
What causes lead to the development of Charcot's disease
The main and only cause of any type of Charcot-Marie-Tooth disease is point mutations in genes.
At the moment, science knows about two dozen genes that undergo changes that subsequently lead to amyotrophy. Most often, "breakdowns" are found in genes located on the 1st, 8th chromosomes, namely PMP22, MPZ, MFN2, etc. And this is only a part of them. Many remain behind the scenes, because about 10-15% of patients do not even know about their illness and do not seek medical help.
The demyelinating type of pathology is also associated with acquired autoimmune aggression, in which the cells that create the outer sheath of the nerve are perceived by the body as foreign and are destroyed.
There are also risk factors that contribute to a more vivid manifestation of the symptoms of Charcot-Marie-Tooth disease and the aggravation of the already existing clinical picture.
Triggers of the disease include:
- alcohol consumption;
- the use of potentially neurotoxic drugs. For example, vincristine, lithium salts, metronidazole, nitrofurans, etc.
Anesthesia is contraindicated in patients suffering from hereditary peroneal amyotrophy, in which thiopental is used.
How does Charcot-Marie-Tooth disease manifest?
Charcot-Marie-Tooth disease is not always the same even within the same family. And it's not about the variety of its features. And the fact is that the genes encoding this pathology are capable of forming symptoms with varying degrees of severity. Simply put, having an identical "breakage" in the chromosomes, the signs of the disease in the father and son will have an individual coloration.
Common symptoms
The clinical picture of the disease practically does not depend on its type and includes:
- atrophy of the muscles of the distal, that is, the most distant from the body, sections of the limbs;
- decreased tendon and periosteal reflexes;
- a change in sensitivity, characterized by its loss, but never accompanied by the appearance of a tingling sensation or "creeping";
- deformation of the musculoskeletal system - scoliosis, an increase in the arch of the foot, etc.
But still there are a number of signs that somewhat distinguish the course of the disease in its various variants.
First type
Charcot-Marie-Tooth disease of the first type often occurs in an extremely erased form, in which patients do not feel changes in the body and do not seek medical help at all. If the pathology manifests itself, then this happens during the first, maximum of the second, decade of life.
In this case, the following are observed:
- painful cramps in the muscle mass of the lower leg, and rarely in the gastrocnemius muscle, more often in the anterior muscle group. Such spasms increase after a period of prolonged physical activity (walking, playing sports, cycling);
- changes in gaitassociated with a gradual increase in muscle weakness. However, in children, it may debut in tiptoeing;
- deformity of the feet with the formation of a high vault of the latter and the presence of hammer-like fingers, which develops as a result of an imbalance in the tone of the flexors and extensors;
- amyotrophystarting from the feet and rising to the lower leg. Then the process affects the hand - tremors appear in the hands and severe weakness in the fingers, especially when trying to perform small movements. For example, fastening buttons, sorting out the groats;
- suppression or complete absence of tendon and periosteal reflexes, namely Achilles, carporadial, with intact from the more proximal parts of the arms and legs. That is, the knee and reflexes with the biceps and triceps muscles remain intact;
- sensitivity disorders in the hands and feet, expressed in its gradual loss. Moreover, the pathology starts from the vibrational and tactile spheres, spreading to the joint-muscle and pain sensations;
- scoliosis and kyphoscoliosis;
- thickening of the nerve trunks, most often superficial peroneal and large ear.
Charcot's disease is characterized by muscle atrophy in the distal extremities. At the same time, if the subcutaneous fat is not expressed, the volume of the lower leg and thigh is strikingly different, and the legs take on the appearance of those of a stork or resemble an inverted champagne bottle.
Charcot Marie's neural amyotrophy of the first type has atypical forms. One of them -Rusi-Levi syndrome, in which there is a pronounced tremor when trying to keep the hands in one position and instability when walking. This also includes a disease that manifests itself, in addition to the standard symptoms, paresis, hypertrophy of the muscles of the lower leg, a sharp loss of sensitivity and night cramps in the calf muscles.
Second type
Charcot-Marie-Tooth disease of the second type, in addition to a later onset, is characterized by:
- less pronounced changes in sensitivity;
- more rare occurrence of foot and toe deformities;
- the presence of restless legs syndrome (there are discomfort in the legs during bedtime, forcing the patient to move, which makes the condition easier);
- often retained strength in the hand;
- lack of thickening of the nerve trunks.
In Charcot-Marie-Tooth syndrome, transmitted through the X chromosome, sensorineural hearing loss (hearing loss) and transient encephalopathy that occurs after exercise at altitude can occur. The latter is characterized by the onset of symptoms 2-3 days after exercise. Signs of pathology are unsteadiness, impaired speech, swallowing, weakness in the proximal arms and legs. Usually, the clinical picture of the disease disappears on its own within a couple of weeks.
What is needed to confirm the diagnosis
It must be remembered that, first of all, the doctor will be able to suspect Charcot-Marie-Tooth disease with a burdened family history, that is, the presence of similar symptoms in one of the patient's closest relatives.
Of the instrumental examination methods, the most informative is electroneuromyography (ENMG). In this case, a decrease in the speed of the impulse along the nerves from the normal 38 m / s to 20 m / s on the arms and 16 m / s on the legs is detected. Sensory evoked potentials, which are not evoked at all or have a significantly reduced amplitude, are also investigated.
In the second type of Charcot's syndrome, changes in ENMG do not occur. Pathology is observed only in the study of evoked sensory potentials.
The final confirmation of the presence of neural amyotrophy allows a nerve biopsy with a histological analysis of the materials obtained.
Moreover, the first variant of the disease is characterized by:
- demyelination and remyelination of fibers with the formation of "bulbous heads";
- a decrease in the proportion of large myelinated fibers;
- atrophy of axons with a decrease in their diameter.
And the second type of Charcot's disease Marie Tooth is not accompanied by demyelination and the formation of "bulbous heads", otherwise the symptoms are the same.
Approaches to the treatment of Charcot's disease
At the moment, there is no specific therapy for Charcot's disease, only symptomatic has been developed. Moreover, to a greater extent, the emphasis is on exercise therapy and physiotherapy. Proper foot hygiene and the wearing of orthopedic shoes are considered equally important.
Surgery
Of the surgical interventions for Charcot's syndrome, arthrodesis of the ankle joints is most often resorted to: removal of cartilaginous surfaces and fusion of the talus and tibia. This is accompanied by the fixation of the leg in one position and loss of mobility of the foot, but it allows you to retain the ability to move.
Physiotherapy methods
When signs of pathology are detected, they immediately resort to teaching the patient exercise therapy exercises, which will allow maintaining the elasticity of muscles and tendons as long as possible. Also, massage and aerobic exercise, for example, swimming, walking, have a beneficial effect on the condition of patients.
The main groups of drugs
The use of drugs for Charcot-Marie-Tooth disease is extremely limited due to their low effectiveness. For example, the use of vitamins, coenzyme Q, neuroprotectors and metabolites does not lead to a decrease in the severity of pathological processes.
In cases where there is a sudden progression of symptoms and an increase in weakness in the legs, corticosteroids (Dexamethasone, Methylprednisolone), immunoglobulin preparations (Bioven mono) or plasmapheresis are prescribed. Since most often the cause of this deterioration is the attachment of the autoimmune process.
In a number of experiments, high doses of vitamin C have been proven to have a positive effect on slowing down the demyelination processes in Charcot's disease of the first type.
If the patient complains of severe pain in the legs, then antidepressants (Amitriptyline) and anticonvulsants (Gabapentin, Lamotrigine, Topiramate) become the drugs of choice.
Forecast
Charcot-Marie-Tooth disease has a chronic progressive course, but at the same time, the symptoms of pathology develop extremely slowly - for years, or even decades. Patients are able to walk and care for themselves almost until the end of their lives without assistance. Of course, this is possible only on condition of timely treatment and adherence to further doctor's recommendations.
Charcot's syndrome is not fatal. The life expectancy of patients has nothing to do with the presence of this disease.
Pregnancy, as well as the use of drugs prohibited for this pathology: Thiopental, Vincristine, etc., can aggravate the patient's condition. the sheath of your own nerves.
It must be remembered that patients suffering from Charcot-Marie-Tooth disease need competent career guidance, taking into account the development in the future they have problems in fine motor skills of the hands.
Complications of Charcot's disease
Charcot-Marie-Tooth disease is not rich in complications. In addition to impaired walking and movements in the hands, trophic ulcers on the feet can be observed. But even with a long history, pathology allows most patients to maintain independence and move independently.
Conclusion
Although today there are no drugs that can completely stop the development of Charcot-Marie-Tooth disease, this does not mean that they will not appear in the near future. Despite the chronic, steadily progressive course, the prognosis of the syndrome remains favorable. A variety of symptomatic interventions have been developed that will allow the patient to maintain movement and carry out their domestic and professional duties.
