Search results
Results from the WOW.Com Content Network
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.
Diseases. Database. OMIM; HMSN1: Charcot–Marie–Tooth disease type 1A and 1B: 5815 (multiple) Hypertrophic demyelinating type: affected individuals experience weakness and atrophy in the lower legs in adolescence, and later develop weakness in the hands. This is the most common type of CMT. HMSN2: Charcot–Marie–Tooth disease type 2: 2343 ...
X-linked Charcot–Marie–Tooth disease type 3: This subtype is characterized by childhood/adolescent-onset pain and numbness, progressive distal muscle weakness and atrophy which begins in the lower limbs and spreads to the upper limbs, distal upper and lower limb pain sensation loss, high-arched feet, and areflexia or hyporeflexia of the ...
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 ...
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]
For premium support please call: 800-290-4726 more ways to reach us
The diagnosis of polyneuropathy begins with a history (anamnesis) and physical examination to ascertain the pattern of the disease process (such as arms, legs, distal, proximal), if they fluctuate, and what deficits and pain are involved. If pain is a factor, determining where and how long it has been present is important; one also needs to ...