SPINAL MUSCLE ATROPHY

Course overview

SPINAL MUSCULAR ATROPHY IS AN INHERITED AUTOSOMAL RECESSIVE DISEASE OF A VARYING PHENOTYPE THAT IS CHARACTERIZED BY PROGRESSIVE MUSCLE WEAKNESS, REDUCED TONE WITH ASSOCIATED DESTRUCTION OF ALPHA MOTOR UNITS. THERE ARE FOUR MAIN SUBTYPES OF SPINAL MUSCULAR ATROPHY DEFINED BY THE AGE OF ONSET AND SEVERITY WITH TYPE 0 PRESENTING IN UTERO AND CAUSING DEATH WITHIN THE FIRST MONTHS OF LIFE AND TYPE 4 IN ADULTHOOD, CAUSING MILD WEAKNESS AND NO EFFECT ON LIFESPAN. UNDERSTANDING THE UNDERLYING PATHOPHYSIOLOGY, SUBTYPES, AND EMERGING TREATMENTS IS KEY TO TREATING PATIENTS WITH SPINAL MUSCULAR ATROPHY EFFECTIVELY. THIS ACTIVITY REVIEWS THE EVALUATION AND TREATMENT OF SPINAL MUSCULAR ATROPHY AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN EVALUATING AND TREATING PATIENTS WITH THIS CONDITION.