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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.
CMT disease Charcot–Marie–Tooth disease: CMT1A Charcot–Marie–Tooth disease type 1A CMT1B Charcot–Marie–Tooth disease type 1B CMT1C Charcot–Marie–Tooth disease type 1C CMT1D Charcot–Marie–Tooth disease type 1D CMT1E Charcot–Marie–Tooth disease type 1E CMT1F Charcot–Marie–Tooth disease type 1F CMT1X
Charcot–Marie–Tooth disease type 2: 2343 (multiple) Neuronal type: symptoms similar to type1, onset in adolescence. HMSN3: Dejerine–Sottas disease (Charcot–Marie–Tooth type 3) 5821: 145900: Onset in infancy and results in delayed motor skills, much more severe than types 1 & 2. HMSN4: Refsum disease: 11213: 266500
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.
Arts syndrome is a rare metabolic disorder that causes serious neurological problems in males due to a malfunction of the PRPP synthetase 1 enzyme. Arts Syndrome is part of a spectrum of PRPS-1 related disorders with reduced activity of the enzyme that includes Charcot–Marie–Tooth disease and X-linked non-syndromic sensorineural deafness.
Symptoms of Charcot-Marie-Tooth disease typically appear in adolescence or early adulthood, but may also develop in midlife. 'MAN, I LOVE REAL COUNTRY MUSIC': Alan Jackson talks new 21-track album ...
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 ...
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]