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Neuropathic arthropathy (also known as Charcot neuroarthropathy, neuropathic arthropathy, 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]
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.
Charcot–Marie–Tooth disease, an inherited demyelinating disease of the peripheral nervous system Neuropathic arthropathy , progressive degeneration of a weight bearing joint, also known as Charcot joint disease or Charcot arthropathy
Charcot-Marie-Tooth disease can cause painful foot deformities such as pes cavus. Although it is a relatively common disease, many doctors and laypersons are not familiar with it. There are no cures or effective courses of treatment to halt the progression of any form of Charcot-Marie-Tooth disease at this time. [15]
Jean-Martin Charcot (French: [ʒɑ̃ maʁtɛ̃ ʃaʁko]; 29 November 1825 – 16 August 1893) was a French neurologist and professor of anatomical pathology. [2] He worked on groundbreaking work about hypnosis and hysteria, in particular with his hysteria patient Louise Augustine Gleizes. [3]
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.
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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]