Charcot Marie Tooth Disease Definition, Reason, Symptoms, Treatment & Prevention
Definition
Charcot Marie Tooth Disease (CMT) is a disease that causes motor and sensory neuropathy or atrophy of the peroneal muscles. This condition comprises a group of disorders that affect the peripheral nerves. Charcot Marie Tooth disease is classified as a hereditary disease.
This disease was discovered in 1886 by Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. In the United States, it is estimated that this condition affects one person per 2500 population. There are many types of Charcot Marie Tooth disease, including CMT1, CMT2, CMT3, CMT4, and CMTX.
Charcot Marie Tooth Disease Symptoms
Symptoms of Charcot Marie Tooth disease usually first appear in the first two decades of life. Symptoms often begin with slowly worsening weakness in the limbs, usually the lower limbs first. This weakness can cause difficulty walking or frequent tripping. If the weakness gets worse, complaints of foot drop and steppage can appear (a way of walking in which a person has to lift their foot excessively).
Weakness in the legs can also cause various foot abnormalities, such as pes cavus. This disorder often causes wounds or ulcerations, calluses, cellulitis, and so on.
Weakness in the hand can cause poor finger control, difficulty writing, difficulty wearing buttons or zippers, and difficulty handling small objects.
Sensory symptoms that sufferers often complain about are pain and muscle cramps. CMT is not considered fatal and most sufferers have the same life expectancy as the general population.
Charcot Marie Tooth Disease Reason
Charcot Marie Tooth disease is caused by a genetic mutation that causes abnormalities in the production of proteins that affect the structure and function of peripheral nerves, especially the axons and myelin sheaths. Both of these parts function to send information in the form of electrical signals through nerve cells. Without intact axons and myelin sheaths, it would be difficult for peripheral nerve cells to activate certain muscles, or to send sensory information from the limbs to the brain.
CMT is a hereditary disease and there are several ways to reduce this disease. The first way is through autosomal dominance, meaning that one copy of the abnormal gene is enough to cause disease. Then the second is in an autosomal recessive way, which requires two copies of the abnormal gene to cause disease. Then the third way is through X-linked, namely the abnormal gene copy is passed on through the X chromosome.
Although rare, there is the possibility of a genetic mutation that causes CMT to develop spontaneously and not be passed down.
Charcot Marie Tooth Disease Diagnosis
Several ways may be done to establish a diagnosis of Charcot Marie Tooth disease, including:
- Detailed history or medical interview to find out the history of the disease and symptoms, family history, and so on
- Physical examination, especially a neurological examination to check for muscle weakness, decreased reflexes, sensory loss, abnormalities in the feet, enlarged nerves, and so on
- Supporting examinations, such as:
- Electrodiagnostic examination: nerve conduction studies and electromyography (EMG)
- Genetic testing, generally a positive result will confirm the diagnosis
Charcot Marie Tooth Disease Treatment
There is no treatment for Charcot Marie Tooth disease. However, various methods can be used to help with complaints related to the symptoms that are felt.
Physiotherapy and occupational therapy are one of the treatment options that can be done. This can include strength training, stretching, stamina training, and aerobic exercise. Muscle strength training should be done as early as possible to avoid muscle atrophy. This exercise is best started before disability occurs due to nerve degeneration and muscle weakness.
Stretching can help prevent or reduce joint deformities. Stamina training can help overcome fatigue due to daily activities.
Many people with CMT need ankle braces or other orthopedic devices to maintain daily mobility and avoid injury.