Charcot–Marie–Tooth disease is the most commonly inherited neurological disorder affecting about one in 2,500 people. Symptoms of CMT usually begin in early childhood or early adulthood. Usually, the initial symptom is foot drop early in the course of the disease. It can also cause hammer toe, where the toes are always curled. Weakness in the hands and forearms occurs in many people as the disease progresses.
About Charcot–Marie–Tooth disease in brief
Charcot–Marie–Tooth disease is the most commonly inherited neurological disorder affecting about one in 2,500 people. Symptoms of CMT usually begin in early childhood or early adulthood, but can begin later. Usually, the initial symptom is foot drop early in the course of the disease. It can also cause hammer toe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a ‘stork leg’ or ‘inverted champagne bottle’ appearance. Weakness in the hands and forearms occurs in many people as the disease progresses. Overuse of an affected hand or limb can activate symptoms including numbness, spasm, and painful cramping. Pain due to postural changes, skeletal deformations, muscle fatigue, and cramping is fairly common in people with CMT. Pain can be mitigated or treated by physical therapies, surgeries, and corrective or assistive devices. Analgesic medications may also be needed if other therapies do not provide relief from pain.
CMT can also be caused by X-linked mutations, which create non-functional junctions that interrupt the exchange and transport of nerve signals. The mutation can appear in GJB1 coding for connexin 32, a protein expressed in oligodendrocytes, demyelination cells, and Schwann cells. In CMT, this protein is also present in oligocytes and oligodrocyte cells. This prevents synapses from producing synapses, which are produced by the axon and synapses in the nervous system. The axon is then unable to produce synapses with the synapses. In some people, this prevents the synapse from functioning properly. This can appear as a condition known as postherpetic neuralgia and complex regional pain syndrome, among other diseases. The disease is caused by genetic mutations that cause defects in neuronal proteins. Most mutations in CMT affect the myelin sheath, but some affect theAxon. Some mutations affect the gene MFN2.
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This page is based on the article Charcot–Marie–Tooth disease published in Wikipedia (as of Dec. 01, 2020) and was automatically summarized using artificial intelligence.
