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Hereditary Motor Sensory Neuropathies (HMSN)/Charcot-Marie-Tooth Disease (CMT)

  • Satish V. Khadilkar,
  • Rakhil S. Yadav,
  • Bhagyadhan A. Patel

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.