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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 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.
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.
The disease results in smaller, weaker muscles and may cause loss of sensation, muscle contractions and difficulty walking. ... Charcot-Marie-Tooth disease is an inherited, genetic condition. It ...
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 ...
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.
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.
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 ...