MYOTONIA CONGENITA

Course overview

MYOTONIA CONGENITA (MC) IS A GENETIC NEUROMUSCULAR CHANNELOPATHY WHICH USUALLY PRESENTS IN EARLY CHILDHOOD RESULTING IN A DELAY OF SKELETAL MUSCLE RELAXATION FOLLOWING CONTRACTION. MC HAS MANY IMPLICATIONS FOR PATIENTS AND THEIR FAMILIES, INCLUDING IMPAIRED LOCOMOTION, SWALLOWING, GASTROINTESTINAL DISTURBANCE, AND RESPIRATORY COMPLICATIONS. THIS ACTIVITY DESCRIBES THE PRESENTATION, EVALUATION, AND DIAGNOSIS OF MC AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN THE CARE OF PATIENTS WITH THIS CONDITION.