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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.
It is allelic (i.e., caused by mutations on the same gene) with Charcot–Marie–Tooth disease and with Silver’s Syndrome, a disorder also characterized by small muscle atrophy in the hands. [1] [7] Another rare form of dHMN V is associated with a splicing mutation in REEP-1, a gene often associated with hereditary spastic neuroplegia. [8]
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.
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.
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 ...
Overall, it is estimated that 10-15% of all cases of Charcot–Marie–Tooth disease come from X-linked Charcot–Marie–Tooth disease. [19] It is the second most common type of Charcot–Marie–Tooth disease. [20] According to OrphaNet, 1 out of every 100,000 people are affected by CMTX. [2]
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Toggle the table of contents. ... reduced life expectancy: Frequency: 1 in 50,000 (United States) ... Other diagnoses might include Charcot-Marie-Tooth types 1 and 2, ...