FATAL FAMILIAL INSOMNIA

Course overview

FATAL FAMILIAL INSOMNIA IS A VERY RARE AND INVARIABLY FATAL AUTOSOMAL DOMINANT NEURODEGENERATIVE PRION DISEASE CAUSED BY A MUTATION OF THE PRION PROTEIN (PRNP) GENE. HALLMARKS OF THE DISEASE INCLUDE AGGRESSIVELY PROGRESSIVE INSOMNIA, SUBSEQUENT AUTONOMIC DISTURBANCES, INCLUDING TACHYCARDIA, HYPERHIDROSIS, AND HYPERTENSION, COGNITIVE DISTURBANCES INCLUDING DEFICITS IN SHORT-TERM MEMORY AND ATTENTION, BALANCE PROBLEMS, AND ENDOCRINE DYSFUNCTION. THE DISEASE IS CURRENTLY INCURABLE AND HAS AN AVERAGE DURATION OF 18 MONTHS, ULTIMATELY LEADING TO DEATH. THIS ACTIVITY DESCRIBES THE PATHOPHYSIOLOGY, PRESENTATION, AND MANAGEMENT OF FATAL FAMILIAL INSOMNIA AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN THE CARE OF AFFECTED PATIENTS AND FAMILIES.