Hereditary Motor Sensory Neuropathies (HMSN)/Charcot-Marie-Tooth Disease (CMT)
摘要
Charcot-Marie-Tooth disease (CMT) is the most commonly encountered group of hereditary neuropathies that manifest with slowly progressive muscle weakness and sensory loss. Symptoms emerge in a length-dependent manner. The group is classified based on the mode of inheritance and electrophysiological findings. Genetic testing confirms the diagnosis. Management is supportive and needs the teamwork of a neurologist, physiotherapist, psychiatrist, psychologist, orthopaedic, genetic counselor, and occupational therapist. CMTNS scores help in prognosis.