Charcot-Marie-Tooth (CMT) disease is a series of hereditary illnesses caused by a genetic fault that is inherited from one or both of a child’s parents.
Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy is a series of hereditary illnesses that result in nerve injury. The genetic condition is passed down through generations. Because CMT disease is inherited, people are more likely to develop it if someone in their immediate family has the condition.
CMT occurs when the nerves in the feet, legs, hands, and arms are affected by genetic mutations. These mutations wreak havoc on the nerve’s protective coating (myelin sheath). Both result in weaker signals being sent between the limbs and brain.
CMT disease mostly occurs in the arms and legs (peripheral nerves are affected) with the illness causing muscles to become smaller and weaker. Those affected may also have trouble walking due to a loss of feeling and muscle spasms. Hammertoes and high arches are two prevalent foot abnormalities. The symptoms normally start in the feet and legs although they might spread to the hands and arms.
What are the symptoms of Charcot-Marie-Tooth (CMT) disease?
Symptoms of Charcot-Marie-Tooth (CMT) disease usually emerge in youth or early adulthood, but they can also appear in middle age.
Other medical disorders and neuropathies, such as diabetes, exacerbate symptoms of CMT disease. Chemotherapy medications including vincristine (Marqibo), paclitaxel (Abraxane), and others can worsen symptoms. Hence, it is advised to ensure that your doctor is aware of all the medications you take.
Symptoms of CMT disease may migrate from the feet and legs to the hands and arms as the condition advances. Symptom severity widely varies even among family members.
The following are some of the common signs and symptoms of CMT disease:
- Weakness of the legs, ankles, and feet
- Muscle mass loss in the legs and feet
- High arching of the feet
- Reduced running capacity
- Difficulty lifting the foot at the ankle (footdrop)
- Awkward or higher than normal step (gait)
- A history of tripping or falling
- Loss of feeling or decreased sensation in the legs and feet
How is Charcot-Marie-Tooth (CMT) disease diagnosed?
During the physical examination, your doctor may look for the signs of Charcot-Marie-Tooth (CMT), and the following tests may be advised:
- Nerve conduction studies: A type of research that looks at how the nerves transmit information by measuring the strength and speed of electrical signals.
- Electromyography: A tiny needle electrode is introduced into the muscle through the skin. As people relax and slowly tighten the muscle, electrical activity is detected.
- Biopsy of the nerves: A small section of peripheral nerve is removed from the calf via a skin incision and examined under the microscope.
- Genetic analysis: A blood sample is used in these tests, which can detect the most frequent genetic abnormalities known to cause CMT disease.
How is Charcot-Marie-Tooth (CMT) disease treated?
Charcot-Marie-Tooth (CMT) has no known cure. However, the condition proceeds slowly and does not affect life expectancy.
CMT disease can be managed with the use of various treatments, such as:
- Medications: Muscle spasms or nerve damage can cause discomfort in people with CMT disease. Prescription pain medication can help manage pain.
- Physical and occupational therapy: To avoid muscular stiffness and loss, physical therapy can help strengthen and stretch the muscles. Low-impact exercises and stretching techniques are normally included in a program that is directed by a trained physical therapist and approved by the doctor. Physical therapy, if started early and followed regularly, can help avoid disability.
- Occupational therapy: Gripping and finger actions, such as fastening buttons or writing, might be difficult when the arms and hands are weak. Assistive gadgets, such as special rubber grips on doorknobs or clothing with snaps instead of buttons, can be used in occupational therapy.
- Orthopedic equipment: Many people with CMT disease need the assistance of orthopedic equipment to maintain daily mobility and avoid damage. While walking and ascending stairs, leg and ankle braces or splints can provide stability. For further ankle support, consider boots or high-top shoes. Gait may be improved with custom-made shoes or shoe inserts. If a person has hand weakness and troubles gripping and holding objects, thumb splints may be useful.
- Surgery: Corrective foot surgery may help relieve discomfort and improve the ability to walk if the foot abnormalities are severe. Surgery will not help with numbness or loss of sensation.
- Future medicines that could be used: Researchers are looking into several potential remedies to treat CMT disease in the future. Medication, gene therapy, and in vitro procedures are all possible treatments that could help prevent the condition from being passed down to future generations.
Medically Reviewed on 9/28/2021
Kedlaya D. Charcot-Marie-Tooth Disease. Medscape. https://emedicine.medscape.com/article/1232386-overview