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Charcot–Marie–Tooth disease (CMT) ... CMT2D is a result of autosomal dominant mutations in the human GARS1 gene located at 7p14.3 [34] ...
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.
Autosomal dominant Charcot–Marie–Tooth disease type 2 with giant axons is a rare subtype of hereditary motor and sensory neuropathy of the axons which is characterized by symptoms similar to those from Charcot–Marie–Tooth disease and autosomal dominant inheritance.
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.
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.
Palmoplantar keratoderma and spastic paraplegia (also known as "Charcot–Marie–Tooth disease with palmoplantar keratoderma and nail dystrophy" [1]) is an autosomal dominant or x-linked dominant condition that begins in early childhood with thick focal keratoderma over the soles and, to a lesser extent, the palms. [1]: 513
This type includes a popular disease called Charcot-Marie-Tooth type 2B syndrome (HMSN 2B), which is also referred to as HSAN sub-type 1C. [3] Type 1 is inherited as an autosomal dominant trait. The disease usually starts during early adolescence or adulthood.
Dejerine–Sottas disease, also known as, Dejerine–Sottas syndrome, [3] hereditary motor and sensory polyneuropathy type III, and Charcot–Marie–Tooth disease type 3, is a hereditary neurological disorder characterized by damage to the peripheral nerves, demyelination, and resulting progressive muscle wasting and somatosensory loss.