Charcot-Marie-Tooth Disease


Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, and nearly all cases are inherited. CMT damages the body's peripheral nerves, making them unable to activate muscles or relay sensory informaton from the limbs back to the spinal cord and the brain. There are different types of CMT disease, which may share some symptoms but vary by pattern of inheritance and age of onset. Early symptoms typically include weakness or paralysis of the foot and lower leg muscles. As the disease progresses, weakness and decreased muscle bulk may occur in the hands, arms, legs, or feet. People may lose the ability to feel heat, cold, and touch. Chronic shortening of muscles or tendons around joints prevents the joints from moving freely, and muscle cramping is common. Some people have pain that can range from mild to severe. Genetic testing can detect the most common types of CMT.


There is no cure for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices, and orthopedic surgery can help people cope with the disabling symptoms of the disease. In addition, pain-killing drugs can be prescribed for individuals who have severe pain.


Onset of symptoms of CMT is most often in adolescence or early adulthood but can occur at any age. Progression of symptoms is very gradual. CMT affects both sensory and motor nerves (nerves that trigger an impulse for a muscle to contract). In addition to a reduced ability to feel vibrations, temperature differences, and touch, weakness and muscle atrophy in the hands may cause difficulty with fine motor skills. The disease can cause curvature of the spine and hip displacement. Most individuals with CMT have some amount of physical disability, although some people may never know they have the disease.  CMT usually isn't life threatening and rarely affects muscles involved in vital functions like breathing.


Ongoing research on CMT includes efforts to identify more of the mutant genes and proteins that cause the various disease subtypes. Other research aims to discover the mechanism of muscle atrophy and nerve degeneration, with the goal of developing ways to stop or slow these processes and develop therapies to reverse the damage. Additional research focuses on protein regulation and how the mitochondria, the cell's power plant, may play a role in nerve degeneration. Information from the National Library of Medicine’s MedlinePlus Charcot-Marie-Tooth Disease