Charcot-Marie-Tooth disease (CMT) is aneurological disorder that affects the nerves outside the spinal cord and brain. It causes changes in the peripheral nerves, leading to weakness in the muscles of the hands and feet. There are several types of CMT.
It is a neurological disorder that damages the peripheral nerves that send signals from the brain and spinal cord to the muscles, carrying sensations such as pain and touch, and from the rest of the body to the brain and spinal cord. It is named after the three doctors who described it in 1886. It is also called hereditary motor and sensory neuropathy (HMSN ) or peroneal muscle atrophy, named after the French doctors Jean Martin Charcot and Pierre Marie and the British doctor Howard Henry Tooth.
What Causes Charcot Marie Tooth Disease?
Charcot-Marie-Tooth disease is a disorder that affects the nerves between the brain and muscles and is not contagious. It is transmitted from parents to children through DNA. Therefore, individuals with a family history of CMT are more at risk of developing the disease. There is no known cure, but scientists have identified several genes that cause the disease.
Genetic mutations in CMT affect the way nerve cells "talk" to each other. Over time, they cannot function properly and start to break down. This can weaken a person's muscular system. This disorder affects the peripheral nerves.
In this disease, gene mutations lead to impaired function of myelin or axons. This slows down the signals to and from the brain. Muscles that cannot receive the usual nerve signals gradually weaken and become weaker.
What are the Symptoms of Charcot Marie Tooth Disease?
Symptoms of CMT usually begin before the end of puberty. The typical finding is weakness in the foot and lower leg muscles. This can lead to slow or high-stepping gait, limping and easy falls. As the disease progresses, deformity of the foot may develop. In later stages, muscle thinning (atrophy) may occur in the hands. It is usually a slowly progressing disease.
How is Charcot Marie Tooth Disease Diagnosed?
Examination findings are local for the diagnosis of CMT disease. However, it should be evaluated by a neurologist specialized in this field for a detailed examination and follow-up.
How is Charcot Marie Tooth Disease Treated?
CMT does not have a clear neurological treatment. The aim of the treatment is to maintain the strength of the weakened muscles, prevent or reduce deformity of the joints and bones and ensure general body condition. First of all, it is recommended to follow up with physical therapy, the use of contributing devices such as AFO, and the choice of appropriate shoes and insoles.
Orthopedic treatment is recommended to prevent the development of deformity in the foot or to obtain a painless, flat-footed foot in deformed feet. For this purpose, tendon transfer, muscle release, correction with bone incisions or joint fixation operations may be required. These operations can be performed alone but are commonly used in combination. The type of intervention and how it will be performed should be decided on the basis of examination and standing X-rays.