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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.
This is the most common type of CMT. HMSN2: 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 ...
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 ...
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 ...
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 .
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. [10] PMP22 encodes a 22-kD protein that comprises 2 to 5% of peripheral nervous system myelin. [11]
Treatment is dependent upon diagnosis and the stage at which the diagnosis is secured. For toxic and nutritional optic neuropathies , the most important course is to remove the offending agent if possible and to replace the missing nutritional elements, orally, intramuscularly, or intravenously.
The “Livin on Love” singer has struggled to make music since being diagnosed with Charcot-Marie-Tooth disease. Alan has battled the condition — a hereditary disorder that affects the nervous ...