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Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body.
Charcot–Marie–Tooth disease was first described in 1886 by Jean-Martin Charcot, Pierre Marie, and independently Howard Henry Tooth. [2] In the 1950s, further classification occurred and separated patients into two distinct groups. Group one was characterized by slow nerve conduction velocities and demyelinating neuropathy.
PMP22 point mutations, such as the frameshift mutation Gly94fsX222 (c.281_282insG), can cause clinical overlap between PNPP and Charcot–Marie–Tooth disease type 1A. Missense, nonsense, and splice site mutations have been described. [10] PMP22 encodes a 22-kD protein that comprises 2 to 5% of peripheral nervous system myelin. [11]
Charcot-Marie-Tooth disease is an inherited, genetic condition. It occurs when there are mutations in the genes that affect the nerves in your feet, legs, hands and arms.
Charcot-Marie-Tooth disease is a genetic neurological condition that causes damage to the peripheral nerves that connect the spine and brain to the arms and legs, according to the Mayo Clinic ...
Peripheral neuropathy may be classified according to the number and distribution of nerves affected (mononeuropathy, mononeuritis multiplex, or polyneuropathy), the type of nerve fiber predominantly affected (motor, sensory, autonomic), or the process affecting the nerves; e.g., inflammation (), compression (compression neuropathy), chemotherapy (chemotherapy-induced peripheral neuropathy).
Micrograph showing peripheral neuropathy . Polyneuropathy is peripheral neuropathy occurring in the same areas on both sides of the body. Specialty: Neurology Symptoms: Ataxia [1] Causes: Hereditary (Charcot–Marie–Tooth disease), and acquired (alcohol use disorder) [2] Diagnostic method: Nerve conduction study, urinalysis [3] [1] Treatment
It is allelic (i.e., caused by mutations on the same gene) with Charcot–Marie–Tooth disease and with Silver’s Syndrome, a disorder also characterized by small muscle atrophy in the hands. [1] [7] Another rare form of dHMN V is associated with a splicing mutation in REEP-1, a gene often associated with hereditary spastic neuroplegia. [8]