DENTATORUBRAL PALLIDOLUYSIAN ATROPHY

Course overview

DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) IS A PROGRESSIVE, AUTOSOMAL DOMINANT DISORDER WITH SYMPTOMS AND SEVERITY THAT VARY WITH THE AGE OF ONSET. IDENTIFYING CARDINAL FEATURES OF ADULT AND JUVENILE DRPLA CAN GUIDE A NEUROLOGIST TOWARDS DIAGNOSIS AND SUPPORTIVE TREATMENT OF SYMPTOMS. GIVEN THE AUTOSOMAL DOMINANT INHERITANCE, GENETIC COUNSELING IS IMPORTANT GIVEN THE LEVEL OF FUNCTIONAL IMPAIRMENT CAUSED BY THIS DISORDER. THIS ACTIVITY WILL HIGHLIGHT THE IMPORTANCE OF THE INTERPROFESSIONAL TEAM IN THE EVALUATION AND MANAGEMENT OF DRPLA, INCLUDING POST-DIAGNOSIS COUNSELING AND SYMPTOMATIC MANAGEMENT.