TAY-SACHS DISEASE

Course overview

TAY SACHS DISEASE IS A RARE AUTOSOMAL RECESSIVE PROGRESSIVE NEURODEGENERATIVE DISORDER. PATIENTS USUALLY EXHIBIT A SEVERE CLINICAL COURSE WITH DEATH IN EARLY CHILDHOOD. EARLY DIAGNOSIS OF TAY SACHS IS CLINICALLY VERY CHALLENGING BECAUSE OF THE SUBTLE CLINICAL FEATURES AND NONSPECIFIC BIOCHEMICAL MARKERS. ACCURATE DIAGNOSIS IS IMPORTANT BOTH FOR PROPER MANAGEMENT AND TO REDUCE MORBIDITY AND ALSO FOR PARENTAL COUNSELING AND PRENATAL DIAGNOSIS. THIS ACTIVITY REVIEWS THE PATHOPHYSIOLOGY, CLINICAL FEATURES, EVALUATION, AND TREATMENT OF MENKES DISEASE; AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN THE MANAGEMENT.