Johanna Hamel1, Nicholas Johnson2, Rabi Tawil2, William B Martens2, Nuran Dilek2, Michael P McDermott2, Chad Heatwole2. 1. From the Department of Neurology (J.H., R.T., W.B.M., N.D., M.P.M., C.H.) and Department of Biostatistics and Computational Biology (M.P.M.), University of Rochester Medical Center, NY; and Department of Neurology (N.J.), Virginia Commonwealth University, Richmond. johanna_hamel@urmc.rochester.edu. 2. From the Department of Neurology (J.H., R.T., W.B.M., N.D., M.P.M., C.H.) and Department of Biostatistics and Computational Biology (M.P.M.), University of Rochester Medical Center, NY; and Department of Neurology (N.J.), Virginia Commonwealth University, Richmond.
Abstract
OBJECTIVE: To determine the frequency and relative importance of the most meaningful symptoms in facioscapulohumeral muscular dystrophy (FSHD) and to identify the demographic and clinical features that are associated with the greatest disease burden in this population. METHODS: We performed a cross-sectional study involving 328 participants with FSHD. Collectively, participants reported the prevalence and relative importance of 274 symptoms and 15 symptomatic themes. We assessed the association between symptomatic theme prevalence and participants' age, sex, disease duration, pain level, employment status, and education. RESULTS: Participants answered >48,000 questions regarding their disease burden. The symptomatic themes with the highest prevalence in our sample were problems with shoulders or arms (96.9%), limitations with activities (94.7%), core weakness (93.8%), fatigue (93.8%), limitations with mobility and walking (93.6%), changed body image due to the disease (91.6%), and pain (87.7%). Problems with shoulders and arms and limitations with mobility and walking had the greatest effect on participants' lives. Employment status and the report of pain had the most extensive association with the prevalence of symptoms, with employment being associated with 8 of 15 of the symptomatic themes and pain being associated with 7 of 15 of the symptomatic themes. Men and women with FSHD experienced a similar prevalence of all symptomatic themes. CONCLUSIONS: Adults with FSHD experience a variety of symptoms that play an important role in their disease burden. These symptoms have a variable prevalence and importance in the FSHD population and are associated with disease duration, employment status, and pain level.
OBJECTIVE: To determine the frequency and relative importance of the most meaningful symptoms in facioscapulohumeral muscular dystrophy (FSHD) and to identify the demographic and clinical features that are associated with the greatest disease burden in this population. METHODS: We performed a cross-sectional study involving 328 participants with FSHD. Collectively, participants reported the prevalence and relative importance of 274 symptoms and 15 symptomatic themes. We assessed the association between symptomatic theme prevalence and participants' age, sex, disease duration, pain level, employment status, and education. RESULTS: Participants answered >48,000 questions regarding their disease burden. The symptomatic themes with the highest prevalence in our sample were problems with shoulders or arms (96.9%), limitations with activities (94.7%), core weakness (93.8%), fatigue (93.8%), limitations with mobility and walking (93.6%), changed body image due to the disease (91.6%), and pain (87.7%). Problems with shoulders and arms and limitations with mobility and walking had the greatest effect on participants' lives. Employment status and the report of pain had the most extensive association with the prevalence of symptoms, with employment being associated with 8 of 15 of the symptomatic themes and pain being associated with 7 of 15 of the symptomatic themes. Men and women with FSHD experienced a similar prevalence of all symptomatic themes. CONCLUSIONS: Adults with FSHD experience a variety of symptoms that play an important role in their disease burden. These symptoms have a variable prevalence and importance in the FSHD population and are associated with disease duration, employment status, and pain level.
Authors: Rabi Tawil; George W Padberg; Dennis W Shaw; Silvère M van der Maarel; Stephen J Tapscott Journal: Neuromuscul Disord Date: 2015-11-09 Impact factor: 4.296
Authors: J S Kalkman; M L Schillings; S P van der Werf; G W Padberg; M J Zwarts; B G M van Engelen; G Bleijenberg Journal: J Neurol Neurosurg Psychiatry Date: 2005-10 Impact factor: 10.154
Authors: James E Hilbert; John T Kissel; Elizabeth A Luebbe; William B Martens; Michael P McDermott; Donald B Sanders; Rabi Tawil; Charles A Thornton; Richard T Moxley Journal: Contemp Clin Trials Date: 2011-11-26 Impact factor: 2.226
Authors: Chad Heatwole; Rita Bode; Nicholas Johnson; Christine Quinn; William Martens; Michael P McDermott; Nan Rothrock; Charles Thornton; Barbara Vickrey; David Victorson; Richard Moxley Journal: Neurology Date: 2012-07-11 Impact factor: 9.910
Authors: Mark P Jensen; Amy J Hoffman; Brenda L Stoelb; Richard T Abresch; Gregory T Carter; Craig M McDonald Journal: Arch Phys Med Rehabil Date: 2008-02 Impact factor: 3.966
Authors: Jordi Miró; Katherine A Raichle; Gregory T Carter; Sarah A O'Brien; Richard T Abresch; Craig M McDonald; Mark P Jensen Journal: Am J Hosp Palliat Care Date: 2009-05-04 Impact factor: 2.500
Authors: Phillip Mongiovi; Nuran Dilek; Connie Garland; Michael Hunter; John T Kissel; Elizabeth Luebbe; Michael P McDermott; Nicholas Johnson; Chad Heatwole Journal: Neurology Date: 2018-08-24 Impact factor: 11.800
Authors: Anthony Tucker-Bartley; Jordan Lemme; Andrea Gomez-Morad; Nehal Shah; Miranda Veliu; Frank Birklein; Claudia Storz; Seward Rutkove; David Kronn; Alison M Boyce; Eduard Kraft; Jaymin Upadhyay Journal: Neurosci Biobehav Rev Date: 2021-02-10 Impact factor: 9.052
Authors: Samantha LoRusso; Nicholas E Johnson; Michael P McDermott; Katy Eichinger; Russell J Butterfield; Elena Carraro; Kiley Higgs; Leann Lewis; Karlien Mul; Sabrina Sacconi; Valeria A Sansone; Perry Shieh; Baziel van Engelen; Kathryn Wagner; Leo Wang; Jeffrey M Statland; Rabi Tawil Journal: BMC Neurol Date: 2019-09-10 Impact factor: 2.474