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Background: 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.Methods: 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.Results: 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.Conclusions: 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. [ABSTRACT FROM AUTHOR]

Background: Hereditary spastic paraparesis (HSP) is a group of rare genetic disorders affecting the central nervous system. Pure HSP is limited to lower limb spasticity and urinary voiding dysfunction. Complex HSP involves additional neurological features. Beyond the described core symptoms, knowledge about the burden of disease for adults with HSP is limited, particularly regarding gastrointestinal functions, fecal incontinence, and urinary symptoms.Methods: We conducted a cross-sectional self-report survey with 108 adult HSP patients (Mage = 57.7 years, SD = 11.5, range 30 to 81; 54.2% females) recruited from a national HSP user group association and a national (non-clinical) advisory unit for rare disorders. HSP data was compared to data from a Norwegian population study, HUNT-3 (N = 46,293).Results: The HSP group reported more gastrointestinal and urinary complaints compared to controls. Gastrointestinal complaints included at least "much" complaints with constipation (14.6%) and alternating constipation/diarrhea (8.0%), and at least daily uncontrollable flatulence (47.6%), fecal incontinence (11.6%), and inability to hold back stools (38.5%). Urinary complaints included frequent urination (27.4% > 8 times daily), sudden urge (51.9%) and urinary incontinence (30.5% at least daily/nightly).Conclusion: This survey of adults with HSP recruited from non-clinical settings showed constipation, alternate constipation and diarrhea, fecal incontinence, and voiding dysfunction represent considerable problems for many persons with HSP. Health care providers should screen and manage often unrecognized gastrointestinal and fecal incontinence complaints among HSP patients. [ABSTRACT FROM AUTHOR]