DANON DISEASE

Course overview

DANON DISEASE IS A RARE X-LINKED DOMINANT GENETIC DISORDER THAT MANIFESTS WITH THE CLINICAL TRIAD OF CARDIOMYOPATHY, SKELETAL MYOPATHY, AND INTELLECTUAL DISABILITY. IT IS CAUSED BY GENETIC MUTATIONS IN THE LYSOSOME-ASSOCIATED MEMBRANE 2 (LAMP2) GENE, WITH MOST MUTATIONS LEADING TO AN ABSENCE OF LAMP2 PROTEIN. MOST PUBLISHED DATA ON THIS DISEASE IS ABSTRACTED FROM CASE REPORTS, LIMITED OBSERVATIONAL STUDIES, AND EXPERT OPINION. THIS ACTIVITY DESCRIBES THE EVALUATION AND MANAGEMENT OF DANON DISEASE AND HIGHLIGHTS THE ROLE OF AN INTERPROFESSIONAL TEAM APPROACH IN MANAGING AND IMPROVING CARE FOR PATIENTS WITH THIS CONDITION.