Charcot-Marie-Tooth Disease, Peroneal Muscular Atrophy

Charcot-Marie-Tooth Disease, Peroneal Muscular Atrophy: a hereditary disease of the peripheral nerves

Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) is an inherited peripheral nerve disorder, also known as congenital sensorimotor neuropathy. It usually begins before puberty and is manifested by gradually progressive weakness and atrophy of the small muscles of the feet and legs, almost always symmetrically. Later, the disease affects the muscles of the upper limbs, including the small muscles of the hand.

Charcot-Maritus disease is a hereditary disease that can be transmitted in either a dominant or recessive manner. The dominant form is inherited from one parent, while the recessive form is inherited when both parents are carriers of the altered gene. The disease can also develop as a result of new mutations.

Peroneal Muscular Atrophy is one of the forms of Charcot-Maritus Disease and is manifested by atrophy of the muscles of the lower legs, especially the muscles of the peroneal group. This causes sufferers to lose the ability to lift the forefoot when walking, which can lead to unsteadiness and falls. Later, the disease can affect other muscle groups, including small muscles of the hands.

Diagnosis of Charcot-Maritut disease and Peroneal Muscular Atrophy is based on symptoms and clinical examination, as well as electromyography (a study of the electrical activity of muscles), nerve biopsy (taking a tissue sample for examination) and genetic testing.

At the moment, there is no medicine that would completely cure Charcot-Maritus disease and Peroneal Muscular Atrophy. However, various treatments are available that can help improve patients' quality of life. For example, physical therapy can help maintain muscle strength and joint flexibility, and orthotic devices such as orthoses can help improve foot support and reduce the likelihood of falls.

In conclusion, Charcot-Maritus disease and Peroneal Muscular Atrophy are serious inherited peripheral nerve diseases that can significantly reduce patients' quality of life. Although there is currently no drug that will completely cure these diseases, physical therapy and orthopedic devices can help improve patients' lives. Regular consultations with your doctor and genetic testing can help identify your risk of developing diseases and take steps to prevent them or diagnose them early. It is important to remember that early seeking medical help and following doctors' recommendations can stop the progression of the disease and improve the quality of life of patients.



Charcot-Marie-Tooth Disease, Peroneal Muscular Atrophy: description, symptoms and treatment

Charcot-Maritus disease, also known as congenital sensorimotor neuropathy, is an inherited disorder of the peripheral nerves. This disease usually begins before puberty and is manifested by gradually progressive weakness and atrophy of the small muscles of the feet and legs. Later, the disease affects the muscles of the upper limbs, including the small muscles of the hand.

Symptoms of Charcot-Maritout disease can vary depending on the type and extent of the disease, but usually include gradually progressive muscle weakness, especially in the legs, which can lead to difficulty walking and coordinating movements. Deformities of the feet and hands, soreness in the muscles and joints, and sensory disturbances in the extremities may also occur.

Peroneal muscular atrophy, or Kugelberg-Welander disease, is also an inherited peripheral nerve disorder that affects the muscles of the lower legs and feet. This disease usually begins in childhood and is characterized by gradually progressive weakness of the legs, which can lead to difficulty walking and coordinating movements.

Symptoms of peroneal muscular atrophy may also include foot and leg deformities, muscle wasting, muscle and joint soreness, and sensory disturbances in the extremities.

Treatment of Charcot-Maritus disease and peroneal muscular atrophy is aimed at improving the quality of life of patients and minimizing symptoms as much as possible. This may include physical therapy, the use of orthoses and other assistive devices, and drug therapy to relieve pain and reduce muscle weakness.

Despite the fact that Charcot-Maritus disease and peroneal muscular atrophy are incurable, there are many ways to cope with their manifestations and improve the quality of life of patients. Therefore, it is important to see a doctor at the first sign of these diseases to begin effective treatment and prevent the progression of symptoms.



**Charcot-Maritut disease** Charcot-Maritut disease or syndrome is inherited as an autosomal recessive disease. It is caused by mutations in the genes responsible for the construction and functioning of the special actin protein. However, he has one more symptom - pathological muteness. If a patient has this symptom, he is diagnosed with a neuromuscular sac. It is worth noting that not every case of Charcot Marietooth's disease is accompanied by deafness. It all depends on which gene is defective. In the first type of disease, the nervous system is affected