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In 2010, CMT was one of the first diseases where the genetic cause of a particular patient's disease was precisely determined by sequencing the whole genome of an affected individual. This was done by the scientists employed by the Charcot Marie Tooth Association (CMTA). [46] [26] Two mutations were identified in a gene, SH3TC2, known to cause ...
Charcot–Marie–Tooth disease type 1A and 1B: 5815 (multiple) Hypertrophic demyelinating type: affected individuals experience weakness and atrophy in the lower legs in adolescence, and later develop weakness in the hands. This is the most common type of CMT. HMSN2: Charcot–Marie–Tooth disease type 2: 2343 (multiple)
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
Costochondritis, also known as chest wall pain syndrome or costosternal syndrome, is a benign inflammation of the upper costochondral (rib to cartilage) and sternocostal (cartilage to sternum) joints. 90% of patients are affected in multiple ribs on a single side, typically at the 2nd to 5th ribs. [1]
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 ...
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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.
X-linked Charcot–Marie–Tooth disease type 5: This subtype is characterized by infancy/childhood-onset progressive distal limb muscle weakness and atrophy that affects both upper and lower extremities (although it is important noting that it appears and is more noticeable on the lower extremities), foot drop, gait abnormalities, bilateral ...