#CHARCOT MARIE TOOTH DISEASE MTMR MANUAL#

Rare symptoms include breathing difficulties caused by respiratory muscle weakness, swallowing or speaking difficulties, neurogenic bladder, hearing loss, optic neuropathy and vocal cord paralysis.

Additional symptoms may include flexed fingers, contractures, tremor, knee and/or hip problems, muscle cramps, muscle spasms, thenar muscle atrophy (loss of muscle mass between the thumb and forefinger), loss of overall hand strength, absent or reduced reflexes, chronic fatigue, obstructive sleep apnea, poor circulation, scoliosis, kyphosis, hip dysplasia. Many people have chronically cold hands and feet.

Poor tolerance for cool, cold and/or hot temperatures is typical.

The loss of the ability to sense where one’s body is in space (proprioception) is also common, and many people experience musculoskeletal or neuropathic pain.

Abnormal sensation, loss of ability to feel light touch, the overall sense of touch, and the ability to perceive temperature change can become diminished, or even lost, in CMT.

#CHARCOT MARIE TOOTH DISEASE MTMR MANUAL#

Difficulty with tasks involving manual dexterity, such as writing, grasping or picking up small object or manipulating zippers and buttons can develop as atrophy in the hands sets in and progresses.Foot drop (inability to lift foot at ankle), poor balance, and problems walking may develop as muscles atrophy in the feet and legs, and some people may have hip dysplasia.Later in the disease process, contractures may develop in the fingers and hands. Structural foot deformities such as high arches and hammertoes (curled toes) are common, but some people have flat feet and straight toes.Children with CMT may fall more frequently and be delayed in reaching some of the standard childhood physical milestones. First signs may include toe-walking, frequent tripping, ankle sprains, clumsiness, and “burning” or pins-and-needles sensations in the feet and/or hands.Learn more about CMT Types and Subtypes Is CMT progressive?ĬMT is slowly progressive, causing loss of normal function and/or sensation in the lower legs/feet and hands/arms. There are three main types of CMT – demyelinating (types 1 & 4), axonal (type 2), and intermediate. Most people (90%) have one of four types of CMT: CMT 1A (PMP 22) CMT 1B (MPZ) CMT 2A (MFN2) and CMT 1X (GJB1). Scientists have identified over 100 different gene mutations causing CMT. It can also occur as a new or spontaneous (de novo) mutation. CMT can be passed on from one generation to the next. Is CMT genetic?ĬMT is the most commonly inherited peripheral neuropathy. Who gets CMT?ĬMT can affect anyone regardless of race, gender, ethnicity, etc. How many people have CMT?ĬMT affects 150,000 people in the United States and roughly 3 million worldwide. Jean-Martin Charcot and Pierre Marie (both from France) and Howard Henry Tooth (of the United Kingdom). (shar-ko¯’ mä-re´ tooth) Where did the name CMT come from?ĬMT is the acronym for Charcot-Marie-Tooth disease, named after the three physicians who first described it: Drs. See below for the pronunciation of Charcot-Marie-Tooth disease. One common question asked is how is Charcot-Marie-Tooth pronounced. Charcot-Marie-Tooth (CMT) is a disease of the peripheral nerves that control muscles that can cause progressive loss of function and sensation in the hands, arms, legs, and feet.

Charcot marie tooth disease mtmr