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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. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people.
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 ...
Myasthenia Gravis (MG), a rare neuromuscular autoimmune disease. MG's dominant characteristic is muscles weakness including facial, jaw, pharyngeal and laryngeal muscles. [10] [11] Charcot-Marie-Tooth (CMT), a neurological heredity disease that affects both motor and sensory functions.
The “Livin on Love” singer has struggled to make music since being diagnosed with Charcot-Marie-Tooth disease. Alan has battled the condition — a hereditary disorder that affects the nervous ...
Classifications of Charcot–Marie–Tooth disease refers to the types and subtypes of Charcot–Marie–Tooth disease (CMT), a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body.