Abstract
BackgroundHereditary 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.MethodsWe 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).ResultsThe 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).ConclusionThis 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.
Highlights
Hereditary spastic paraparesis (HSP) is a group of rare genetic disorders affecting the central nervous system
Complex HSP is not limited to the lower extremities, and may include additional neurological symptoms such as ataxia, extrapyramidal signs, epilepsy, mental retardation, dementia, and peripheral nerve involvement [1, 3]
Within the HSP sample, participants recruited from NASPA were significantly older than participants recruited from Frambu (MNASPA = 59.7 years, Standard deviation (SD) = 11.5 vs.MFrambu = 54.6 years, SD = 10.9, d = 0.46)
Summary
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. Pure forms of HSP affect the lower limbs and lead to slowly progressing spastic weakness, and micturition dysfunction [2]. Complex HSP is not limited to the lower extremities, and may include additional neurological symptoms such as ataxia, extrapyramidal signs, epilepsy, mental retardation, dementia, and peripheral nerve involvement [1, 3]. It is less known to what extent fecal incontinence (FI), defined by unintentional loss of solid or liquid stool, is present in the HSP population. This is unfortunate, and in our experience, HSP patients regard FI as an important issue
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