Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands

Abstract Background Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by progressive spastic paresis of the lower limbs. Treatment is often focused on reducing spasticity and its physical consequences. To better address individual patients’ needs, we investigated a broad range of experienced complaints, activity limitations, and loss of motor capacities in pure HSP. In addition, we aimed to identify patient characteristics that are associated with increased fall risk and/or reduced walking capacity. Methods We developed and distributed an HSP-specific online q... Mehr ...

Verfasser: van Lith, Bas J. H.
Kerstens, Hans C. J. W.
van den Bemd, Laura A. C.
der Sanden, Maria W. G. Nijhuis-van
Weerdesteyn, Vivian
Smeets, Rob J. E. M.
Fheodoroff, Klemens
van de Warrenburg, Bart P. C.
Geurts, Alexander C. H.
Dokumenttyp: Artikel
Erscheinungsdatum: 2020
Reihe/Periodikum: Orphanet Journal of Rare Diseases ; volume 15, issue 1 ; ISSN 1750-1172
Verlag/Hrsg.: Springer Science and Business Media LLC
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-27628854
Datenquelle: BASE; Originalkatalog
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Link(s) : http://dx.doi.org/10.1186/s13023-020-1338-4

Abstract Background Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by progressive spastic paresis of the lower limbs. Treatment is often focused on reducing spasticity and its physical consequences. To better address individual patients’ needs, we investigated a broad range of experienced complaints, activity limitations, and loss of motor capacities in pure HSP. In addition, we aimed to identify patient characteristics that are associated with increased fall risk and/or reduced walking capacity. Methods We developed and distributed an HSP-specific online questionnaire in the Netherlands. A total of 109 out of 166 questionnaires returned by participants with pure HSP were analyzed. Results Participants experienced the greatest burden from muscle stiffness and limited standing and walking activities, while 72% reported leg and/or back pain. Thirty-five and 46% reported to use walking aids (e.g. crutches) indoors and outdoors, respectively; 57% reported a fall incidence of at least twice a year (‘fallers’); in 51% a fall had led to an injury at least once; and 73% reported fear of falling. Duration of spasticity and incapacity to rise from the floor were positively associated with being a ‘faller’, whereas non-neurological comorbidity and wheelchair use were negatively associated. Higher age, experienced gait problems, not being able to stand for 10 min, and incapacity to open a heavy door showed a negative association with being a ‘walker without aids’ (> 500 m). Conclusions Our results emphasize the large impact of spastic paraparesis on the lives of people with pure HSP and contribute to a better understanding of possible targets for rehabilitation.