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Charcot Marie Tooth Disease Research Chief Medical Network June 17, 2007 Sunday CLINICIANS Call for Papers neuropathic pain diseases, chest diseases clinics classes of modern diagnostic imaging clinic session arrhythmia class medical treatment core journals Call for Papers conditioning training course of disease progress in hospital pharmacy new emergency meeting of the 13th International Congress of fourth Chinese Journal of Digestive Diseases Intervention forum Forum 2010 China National norms difficult diagnosis and treatment of severe liver disease glaucoma Forum Conference World Congress of Cardiology 2010, the National Intravenous Therapy Nursing Forum Repair Forum femoral head necrosis
Study: When Lan Chun GUO Xiao-Qiang Wang Jiangyan TRUTH , Department of Biochemistry, Bethune Military Medical College, ShijiazhuangKey words Charcot Marie Tooth disease; nerve disease; genetic disease
Charcot Marie Tooth disease (CMT disease) is a progressive neural muscular atrophy syndrome, also known as hereditary motor and sensory nerve disease (HMSN) and peroneal muscular atrophy (PMA), CMT disease itself does not endanger the lives of patients, but they seriously affect the health of patients, to the inconvenience in their daily lives. CMT disease is progressing more slowly, the patient's clinical manifestations is to control the foot / leg or hand / forearm sensory information and muscle atrophy is characterized by, associated with sensory dysfunction, spina


l and foot deformities, autonomic dysfunction and other symptoms. CMT disease is the most common inherited neurological diseases, so far, no effective treatment. But with further research, it is gradually on the CMT has a more comprehensive understanding of disease, the treatment also appeared in a number of new options, so as to improve the symptoms of the disease and ultimately offers hope of cure.
1CMT disease Introduction
1.1CMT discovery and classification of disease
CMT disease was first two in 1886 by the French neurologist Jean - Martin
Charcot-Marie-Tooth disease which checks should be done?
Auxiliary examination methods of the disease is mainly neurophysiological examination.
Nerve conduction velocity in the diagnosis of detection of the disease is very helpful for classification is essential. Often choose large, hypothenar muscles, tibialis anterior, gastrocnemius, the muscle nerve quiet state without vector potential, a small force of contraction time of motor unit potential, amplitude, strong contraction of the potential and the peak potential testing phase. Detected using surface electrodes motor nerve conduction velocity (motor nerve con2duction velocity, mcv) and sensory nerve conduction velocity (sensory nerve con2duction velocity, ncv), regular testing of the median nerve and ulnar nerve mcv and scv, tibial nerve and common peroneal nerve mcv , sural nerve scv. EMG, nerve conduction velocity normal light soup Xiaofu standards. Most patients can be expressed as uniform slowing without conduction block of hereditary demyelinating neuropathy constitutes a characteristic performance.1, distal muscular dystrophy: the gradual upward development of distal limb weakness, muscle atrophy, adult-onset disease, damage myogenic electromyography, motor NCV can be normal and other identifying information;
2, distal spinal muscular atrophy: distribution and duration of muscle atrophy and CMT2 quite similar, but the EMG can confirm that the anterior horn damage;
3, hereditary ataxia with muscular atrophy: also known as the Roussy-L
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