title: Health survey of adults with hereditary spastic paraparesis compared to population study controls.
abstract: Hereditary spastic paraparesis (HSP) is a rare neurodegenerative condition characterized by slowly progressive spastic weakness of the lower limbs and urinary sphincter dysfunction. Complex HSP involves additional neurologic symptoms and signs like ataxia, extra pyramidal signs, polyneuropathy, and cognitive decline. Little is known about the disease burden for adults with HSP beyond the described core symptoms.
  
  
  
  A cross-sectional survey of 108 adults aged 30 years and older (Mage = 57.7 years, SD = 11.5, range 30 to 81; 54.2 % females) recruited from a national center of expertise for rare disorders and a patient advocacy organization in Norway. Self-report data from the HSP sample was compared to self-report data from a large Norwegian population study, HUNT3 (N = 46,293), covering health-related variables such as overall life satisfaction, mental wellbeing, memory function, perceived pain, and co-morbid diseases. In addition, the HSP sample reported specific items developed for this study in co-operation with the patient advocacy organization.
  
  
  
  The HSP sample more frequently lived alone. Overall, the HSP sample reported lower life satisfaction, lower mental wellbeing and lower social support, as well as poorer memory and sleep, compared to controls. Furthermore, the HSP sample more frequently reported musculoskeletal pain, constipation, and urinary incontinence compared to controls. There was no difference between samples in frequency of physical activity and alcohol and tobacco use. Men with HSP reported higher impact of HSP, lower life satisfaction, and less ability to perform activities of daily living compared to women with HSP.
  
  
  
  Adults with HSP experience disease burden on a larger number of areas than previously documented, and men with HSP may represent a particularly vulnerable group.
authors.affiliation: Frambu centre for rare disorders, Sandbakkveien 18, 1404, Siggerud, Norway. kfj@frambu.no.|Department of Psychology, University of Oslo, PO Box 1094 Blindern, 0317, Oslo, Norway. kfj@frambu.no.
authors.forename: Krister W
authors.initials: KW
authors.lastname: Fjermestad
authors.affiliation: Frambu centre for rare disorders, Sandbakkveien 18, 1404, Siggerud, Norway.
authors.forename: Øivind J
authors.initials: ØJ
authors.lastname: Kanavin
authors.affiliation: Frambu centre for rare disorders, Sandbakkveien 18, 1404, Siggerud, Norway.
authors.forename: Eva E
authors.initials: EE
authors.lastname: Næss
authors.affiliation: Frambu centre for rare disorders, Sandbakkveien 18, 1404, Siggerud, Norway.
authors.forename: Lise B
authors.initials: LB
authors.lastname: Hoxmark
authors.affiliation: Frambu centre for rare disorders, Sandbakkveien 18, 1404, Siggerud, Norway.
authors.forename: Grete
authors.initials: G
authors.lastname: Hummelvoll
mesh_terms: D000203:Activities of Daily Living; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003430:Cross-Sectional Studies; D005260:Female; D006306:Health Surveys / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009664:Norway; D020336:Paraparesis, Spastic / Q000453:epidemiology* / Q000503:physiopathology; D015419:Spastic Paraplegia, Hereditary / Q000453:epidemiology* / Q000503:physiopathology; D011795:Surveys and Questionnaires