HALLERVORDEN SPATZ DISEASE

Course overview

HALLERVORDEN-SPATZ DISEASE NOW KNOWN AS PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION (PKAN) IS A RARE AUTOSOMAL RECESSIVE NEURODEGENERATIVE DISORDER ASSOCIATED WITH IRON ACCUMULATION IN THE BRAIN NUCLEI AND CHARACTERIZED BY PROGRESSIVE EXTRAPYRAMIDAL DYSFUNCTION AND DEMENTIA. CLASSICALLY, THE DISEASE PRESENTS BETWEEN AGES 7 AND 15 YEARS. HOWEVER, THE DISEASE ONSET HAS BEEN REPORTED IN ALL AGE GROUPS INCLUDING INFANCY AND ADULTHOOD. AS PKAN HAS AN AUTOSOMAL MODE OF INHERITANCE, EACH SIBLING OF AN INDIVIDUAL HAS A 25% CHANCE OF BEING AFFECTED AND A 50% CHANCE OF BEING AN ASYMPTOMATIC CARRIE. THIS ACTIVITY REVIEWS THE EVALUATION AND MANAGEMENT OF PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN THE CARE OF AFFECTED PATIENTS AND THEIR FAMILIES.