Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the peripheral nerves, which are responsible for carrying signals from the brain and spinal cord to the muscles, skin, and other parts of the body. CMT is named after the three doctors who first described the condition in 1886. It is also known as hereditary motor and sensory neuropathy (HMSN).
CMT is the most common inherited neurological disorder, it is caused by mutations in genes that are responsible for the normal function and structure of the peripheral nerves. There are several different types of CMT, and the symptoms and severity of the condition can vary widely from one person to another.
Cause
One of the numerous genes involved in the development of the peripheral nerves has an inherited defect that leads to CMT. Because of this flaw, nerves deteriorate with time. A kid that has CMT can have received the genetic flaw from either one or both of its parents.
CMT is not caused by only one defective gene. There are several varieties of CMT that are brought on by various genetic flaws, and these can be passed on in several different ways.
CMT is a genetic disorder that is inherited in an autosomal dominant or recessive pattern. This means that if a person has the disease, there is a 50% chance that each of their children will inherit the mutated gene. Genetic testing is available to help determine the type of CMT a person has and the likelihood that they will pass the disease on to their children.
Symptoms
Symptoms of CMT usually begin in childhood or adolescence and may include:
- Weakness and wasting of the muscles in the feet, lower legs, and hands
- Numbness or tingling in the hands and feet
- Loss of sensation in the hands and feet
- Foot deformities (hammertoes or claw toes)
- Curvature of the spine
- High arches or flat feet
As the disease progresses, individuals with CMT may have difficulty walking, climbing stairs, or performing other activities that require muscle strength and coordination. They may also be at risk of falls and other injuries due to weakness and numbness in their feet.
Treatments
There is no cure for CMT, but there are treatments that can help manage the symptoms and improve quality of life. These may include physical therapy, occupational therapy, and adaptive equipment such as braces or splints. In some cases, surgery may be needed to correct foot deformities or to stabilize the spine.
It is important for individuals with CMT to work closely with their doctors to develop a treatment plan that meets their needs. It is also important to take care of their overall health, including regular exercise and a healthy diet, to help manage the symptoms of CMT and maintain good physical and mental health.