Search results
Results from the WOW.Com Content Network
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.
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]
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 ...
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 ...
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.
Neuropathic arthropathy (also known as Charcot neuroarthropathy or diabetic arthropathy) refers to a progressive fragmentation of bones and joints in the presence of neuropathy. [1] It can occur in any joint where denervation is present, although it most frequently presents in the foot and ankle. [ 2 ]
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