CHARCOT-MARIE-TOOTH DISEASE

Course overview

CHARCOT-MARIE-TOOTH DISEASE (CMT) IS THE COMMONEST INHERITED NEUROMUSCULAR DISORDER. IT AFFECTS THE PERIPHERAL NERVES AND LEADS TO PROGRESSIVE WEAKNESS OF EXTREMITIES. OCCASIONALLY IT INVOLVES CRANIAL NERVES, OTHER SITES OF THE NEURAXIS, AND OTHER ORGAN SYSTEMS. DIAGNOSIS OF CMT IS IMPORTANT FOR PATIENT EDUCATION AND COUNSELING AS ALSO FOR INITIATING APPROPRIATE REHABILITATION MEASURES AND CONSIDERATION FOR THERAPEUTIC TRIALS. THIS ACTIVITY REVIEWS THE CLINICAL AND ELECTROPHYSIOLOGICAL EVALUATION OF PATIENTS WITH CMT AND PROVIDES A COMPREHENSIVE UPDATE ON THE PATHOPHYSIOLOGY, GENETICS, AND IMAGING FINDINGS. THIS ACTIVITY ALSO HIGHLIGHTS THE NEED FOR INTERPROFESSIONAL CARE AND TRIAL OF UPCOMING POTENTIAL THERAPIES.