Charcot-Marie-Tooth disease belongs to a group of heterogeneous genetic diseases, which are characterized by damage to the peripheral nervous system with the development of atrophy of the muscles of the limbs. Along with this there is a loss of sensation, decreased tendon reflexes and deformity of the limbs. The disease is genetically heterogeneous, about 40 mutations localized in more than 20 genes can lead to its occurrence.
According to various data, Charcot-Marie-Tooth neural amyotrophy occurs with a frequency of 2 to 36 cases per 100 thousand population. The disease is often familial in nature, and members of the same family may have different clinical manifestations. Males have the disease more often than females.
What are the causes of Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease is a disease that affects the nerves between the brain and muscles and is not contagious. It is passed from parents to children through DNA. There is no cure for this disease, but scientists have identified several genes that cause it.
Genetic mutations in this disease affect the way nerve cells “talk” to each other. Over time, they cannot function properly and begin to break down. This can lead to weakening of a person’s muscular system. This disease affects the peripheral nerves.
In this disease, gene mutations cause the myelin or axons to malfunction. This slows down the transmission of signals to and from the brain. Muscles that cannot receive normal nerve signals gradually weaken and become weak.
Symptoms of Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease usually manifests itself between the ages of 10 and 20 years. First there is symmetrical weakness in the legs, which leads to a characteristic change in gait. Then the feet begin to tuck and deform, their arch increases and a hollow foot is formed. As muscle atrophy progresses, the legs acquire the appearance of inverted bottles.
The hands are gradually affected: due to atrophy of the hand muscles, it becomes similar to a monkey’s paw. In addition, sensitivity is affected, mainly superficial. Sometimes there is cyanosis of the affected limbs and swelling on them.
Charcot-Marie-Tooth disease has a slow course. Sometimes the period between manifestation and atrophy of the hands lasts 10 years. Even though atrophy has developed, patients retain the ability to work and self-care for quite a long time. With proper care, life expectancy is not affected.
Diagnosis of Charcot disease
Diagnosis includes:
- Examination by a neurologist;
- Laboratory tests;
- Instrumental tests;
- DNA testing.
A complete examination is necessary to exclude diseases with a similar clinical picture. These include: lateral amyosclerosis, myotonia, metabolic neuropathy. To exclude chronic polyneuropathies, muscle biopsy is performed.
Treatment of Charcot-Marie-Tooth neural amyotrophy
Drug therapy
For treatment, all patients are subject to mandatory hospitalization in an inpatient hospital. Currently, there is no specific therapy that can slow the progression of axonal degeneration. However, timely initiated competent and individually selected therapy can significantly improve the quality of life of patients. Among the drugs for symptomatic treatment are used:
- Vitamins. To improve microcirculation and restore nerve fibers, injections of B vitamins are prescribed.
- Myorelaxants. In order to eliminate painful muscle contractions, patients are recommended to take medications that relax the skeletal muscles.
- Calcium and vitamin D. Since approximately 40% of patients have osteoporosis, calcium and vitamin D medications are indicated to reduce the risk of fractures.
- Anticholinesterase agents.
Non-medication therapy
The main attention is paid to non-drug treatment of Charcot-Marie-Tooth neural amyotrophy. To achieve maximum therapeutic effect, a set of the following measures is used:
- Electrostimulation.
- Therapeutic physical training. In order to improve muscle tone, regular therapeutic exercise is recommended.
- Massage. To improve blood circulation and lymph flow in the muscles (primarily lower extremities) are performed various types of massage.
- Balneotherapy. Mud baths and mud applications contribute to the correction of autonomic nervous system disorders and slowing down the formation of contractures.
- Orthopedic treatment. To prevent the development of gross deformities, orthopedic shoes are prescribed.
Comprehensive implementation of these measures allows to increase muscle strength, correct balance and gait disorders. Thanks to this it is possible to improve the everyday life, social adaptation and working capacity of patients.
Surgical treatment of Charcot-Marie-Tooth disease
In severe atrophic phenomena and deformity of the foot, significantly complicating independent walking, when conservative methods are unsuccessful, orthopedic surgical interventions are indicated.
Early diagnosis
Early diagnosis of the disease can play a crucial role in improving the quality of life of patients. Early detection of the disease allows early treatment to be started in time, which is aimed at improving the functional state of the muscles and slowing down the progression of the disease. Early medical attention at the first signs of the disease, such as changes in gait or weakness in the legs, will help to avoid many complications in the future.
The role of social support
Social support from loved ones as well as health care providers and the community at large is also an important aspect of treatment. Charcot-Marie-Tooth patients may face difficulties in work, social adaptation and daily life due to impaired motor function. Psychosocial support, including assistance in adapting to the workplace and family, can significantly improve their quality of life and reduce their stress levels.
Prognosis and quality of life
The prognosis for patients with Charcot-Marie-Tooth disease depends on the form of the disease and the timing of treatment. With timely support and competent therapy, as well as compliance with medical recommendations, patients can maintain the ability to maintain self-care and perform household tasks for a long time. In general, despite the chronic course of the disease, patients can lead an active lifestyle, maintain occupational activities and remain socially active.
These additional measures and approaches can significantly increase the effectiveness of treatment, improve the patient’s overall condition and quality of life.
Conclusion
Charcot-Marie-Tooth disease is a progressive genetic disorder that primarily affects the peripheral nervous system, leading to muscle atrophy, sensory loss, and deformities in the limbs. While there is no cure for the disease, early diagnosis, proper management, and a combination of both medical and non-medical therapies can significantly improve the quality of life for those affected. Through the use of vitamins, physical therapy, and various supportive treatments, patients can manage symptoms and slow down the progression of the disease.
With the right approach, including social and psychological support, many individuals with Charcot-Marie-Tooth disease can maintain their independence and lead active, fulfilling lives. Early intervention remains crucial in preventing severe complications and ensuring that patients can adapt to the challenges posed by this condition. Regular monitoring, personalized care plans, and appropriate therapeutic measures can allow individuals to continue functioning in society and remain engaged in daily activities for as long as possible.
