CONGENITAL MYOTONIC DYSTROPHY

Course overview

CONGENITAL MYOTONIC DYSTROPHY (CMD) IS AN AUTOSOMAL DOMINANT NEUROMUSCULAR DISORDER WITH MULTISYSTEM INVOLVEMENT. IT IS A SUBTYPE OF MYOTONIC DYSTROPHY TYPE 1. FEATURES INCLUDE SEVERE HYPOTONIA AND GENERALIZED MUSCLE WEAKNESS; MYOTONIA IS CLASSICALLY ABSENT IN INFANCY. THIS ACTIVITY WILL REVIEW CLINICAL FEATURES, PATHOPHYSIOLOGY, AND MANAGEMENT STRATEGIES IN CMD. IT ALSO HIGHLIGHTS THE IMPORTANCE OF THE INTERPROFESSIONAL TEAM IN ACHIEVING THE BEST OUTCOMES IN PATIENTS SUFFERING FROM CMD.