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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.
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 ]
In these disorders, a patient experiences progressive muscle atrophy and sensory neuropathy of the extremities. [2] The term "hereditary motor and sensory neuropathy" was used mostly historically to denote the more common forms Charcot–Marie–Tooth disease (CMT). With the identification of a wide number of genetically and phenotypically ...
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 an inherited, genetic condition. It occurs when there are mutations in the genes that affect the nerves in your feet, legs, hands and arms.
Diabetic foot conditions can be acute or chronic complications of diabetes. [1] Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome. The resulting bone deformity is known as Charcot foot.
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]
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]