DYSTROPHINOPATHIES

Course overview

THIS ACTIVITY COVERS A GROUP OF X-LINKED MUSCLE DISORDERS, WITH THEIR MOST RECOGNIZED PATHOLOGY BEING DUCHENNE MUSCULAR DYSTROPHY (DMD), FOLLOWED BY BECKER MUSCULAR DYSTROPHY (BMD) AND THE RELATIVELY NEW PHENOTYPE DMD ASSOCIATED DILATED CARDIOMYOPATHY (DCM). THE MOST SEVERE PHENOTYPE, DMD, USUALLY PRESENTS IN CHILDHOOD WITH A SERIES OF DEVELOPMENTAL MOTOR PROBLEMS, WHILE BMD, IT IS A LATE-ONSET ENTITY. ALL PATHOLOGIES ARE INHERITED IN AN X-LINKED MANNER, AFFECTING MAINLY MALES; HOWEVER, FEMALES ARE AT RISK FOR DCM. THIS ACTIVITY REVIEWS THE EVALUATION AND MANAGEMENT OF DYSTROPHINOPATHIES AND THE ROLE OF INTERPROFESSIONAL TEAM MEMBERS IN COLLABORATING TO PROVIDE WELL-COORDINATED CARE AND ENHANCE PATIENT OUTCOMES.