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Charcot–Marie–Tooth disease; Other names: Charcot–Marie–Tooth neuropathy, peroneal muscular atrophy, Dejerine-Sottas syndrome: The foot of a person with Charcot–Marie–Tooth disease: The lack of muscle, a high arch, and claw toes are signs of this genetic disease.
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. [11] PMP22 encodes a 22-kD protein that comprises 2 to 5% of peripheral nervous system myelin. [12]
Approximately four hundred mutations within the GJB1 gene have been identified as causing type X Charcot-Marie-Tooth disease, and it is the only gene known to be associated with this disease. [ 13 ] [ 14 ] The majority of these mutations only change a single amino acid within the protein chain, which result in a different protein being produced.
According to Mayoclinic.org, Charcot-Marie-Tooth disease "is a group of inherited disorders that cause nerve damage." The damage is mostly in the arms and legs. The disease results in smaller ...
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 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 ...
Specific examples include Duchenne muscular dystrophy (DMD), a severe form of muscular dystrophy, ALS (amyotrophic lateral sclerosis), and Charcot–Marie–Tooth disease (CMT), which impacts peripheral nerves. MDA also addresses numerous rare disorders, such as Andersen–Tawil syndrome, Laing distal myopathy, and Walker–Warburg syndrome ...
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.