Gastrointestinal and genitourinary symptoms in facioscapulohumeral muscular dystrophy: Prevalence and impact.
facioscapulohumeral muscular dystrophy
gastrointestinal
genitourinary
prevalence
quality of life
Journal
Muscle & nerve
ISSN: 1097-4598
Titre abrégé: Muscle Nerve
Pays: United States
ID NLM: 7803146
Informations de publication
Date de publication:
29 Dec 2023
29 Dec 2023
Historique:
revised:
28
11
2023
received:
03
02
2023
accepted:
10
12
2023
medline:
2
1
2024
pubmed:
2
1
2024
entrez:
29
12
2023
Statut:
aheadofprint
Résumé
Anecdotally, patients with facioscapulohumeral muscular dystrophy (FSHD) describe gastrointestinal (GI) and genitourinary (GU) symptoms. We explored the prevalence of GI and GU symptoms and their impact on quality of life (QOL) in people with FSHD compared to healthy household controls. In this descriptive, cross-sectional study, we emailed a survey exploring GI and GU symptoms to all FSHD Society patient contacts (n = 3507). We invited those with FSHD and unaffected household controls to respond. Non-parametric statistics were used to compare symptom frequency and impact of symptoms between respondents with FSHD and household controls. Within the FSHD group, symptom frequency was assessed relative to measures of disease progression (need for ambulatory or respiratory support). Surveys from 701 respondents (652 with FSHD) ≥18 years old were included in analysis. Those with FSHD had symptoms affecting both GI and GU systems more frequently than controls using ordinal rating of symptom frequency. Within the FSHD group, more advanced disease was associated with increased symptom frequency. QOL was negatively impacted by the GI and GU symptoms. There was no difference between groups in use of medications to treat these symptoms. Recognition and treatment of GI and GU symptoms in people with FSHD, particularly those with more advanced disease, could improve QOL. Additional investigation is required to confirm these findings and understand the physiology.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIH grants
ID : UL1TR002537
Organisme : NIH grants
ID : 2 P01 HL0496925
Organisme : NIH grants
ID : 1 R01 HL 119882
Organisme : NIH grants
ID : 1 R34 AT008349-01
Organisme : NIH grants
ID : 5 UM1 AR063381-02
Organisme : NIH grants
ID : 2 U54 NS053672
Organisme : NIH grants
ID : 1 R01 MG104363-01A1
Organisme : NIH grants
ID : IU01 DK108334
Organisme : NIH grants
ID : 1 U54 TR0013564
Organisme : NIH grants
ID : 1 R01 CA193249
Organisme : FARA
Organisme : Muscular Dystrophy Association
Organisme : FSHD Society grant
ID : 18513100 (BR01)
Informations de copyright
© 2023 The Authors. Muscle & Nerve published by Wiley Periodicals LLC.
Références
Wang LH, Tawil R. Facioscapulohumeral dystrophy. Curr Neurol Neurosci Rep. 2016;16:66.
Tawil R, Kissel JT, Heatwole C, Pandya S, Gronseth G, Benatar M. Evidence-based guideline summary: evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy. Neurology. 2015;85:357-364.
Fitzimons RB, Gurwin EB, Bird AC. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. Brain. 1987;110:631-648.
Longmuir SQ, Mathews KD, Longmuir RA, Joshi V, Olson RJ, Abramoff MD. Retinal arterial but not venous tortuosity correlates with facioscapulohumeral muscular dystrophy severity. J AAPOS. 2010;14(3):240-243.
Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology. 2007;68:569-577.
Lutz KL, Holte L, Kliethermes SA, Stephan C, Mathews KD. Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy. Neurology. 2013;81:1374-1377.
Scully MA, Eichinger KJ, Donlin-Smith CM, Tawil R, Statland J. Restrictive lung involvement in Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2014;50(5):739-743.
Wohlgemuth M, van der Kooi EL, van Kesteren RG, van der Maarel SM, Padberg GW. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology. 2004;63:176-178.
Crockett CD, Bertrand LA, Cooper CS, et al. Urologic and gastrointestinal symptoms in the dystroglycanopathies. Neurology. 2015;84:532-539.
Lionarons JM, de Groot IJM, Fock JM, et al. Prevalence of bladder and bowel dysfunction in Duchenne muscular dystrophy using the childhood bladder and bowel dysfunction questionnaire. Life. 2021;11(8):772.
Macleod M, Kelly R, Robb SA, Borzyskowski M. Bladder dysfunction in Duchenne muscular dystrophy. Arch Dis Child. 2003;88:347-349.
Fisette-Paulhus I, Gagnon C, Girard-Côté L, Morin M. Genitourinary and lower gastrointestinal conditions in patients with myotonic dystrophy type 1: a systematic review of evidence and implications for clinical practice. Neuromuscul Disord. 2022;32(5):361-376.
Staiano A, Del Giudice E, Romano A, et al. Upper gastrointestinal tract motility in children with progressive muscular dystrophy. J Pediatr. 1992;121(5):720-724.
Hilbert JE, Barohn RJ, Clemens PR, et al. High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. Neurology. 2017;89(13):1348-1354.
Kelly CR, Saw J-L, Thapa P, Mandrekar J, Naddaf E. Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort. Muscle Nerve. 2022;65:415-421.
Stubgen J-P. Facioscapulohumeral muscular dystrophy: a radiologic and Manometric study of the pharynx and esophagus. Dysphagia. 2008;23:341-347.
Argov Z, de Visser M. Dysphagia in adult myopathies. Neuromuscul Disord. 2021;31(1):5-20.
Wada A, Kawakami M, Liu M, et al. Development of a new scale for dysphagia in patients with progressive neuromuscular diseases: the neuromuscular disease swallowing status scale (NdSSS). J Neurol. 2015;262:2225-2231.
Brumbaugh D, Watne L, Gottrand F, et al. Nutritional and gastrointestinal management of the patient with Duchenne muscular dystrophy. Pediatrics. 2018;142:53-61.
Audag N, Toussaint M, Liistro G, Vandervelde L, Cugy E, Reychler G. European survey: dysphagia management in patients with neuromuscular diseases. Dysphagia. 2022;37:1279-1287.
Narayanaswami P, Weiss M, Selcen D, et al. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies. Neurology. 2014;83:1453-1463.
Bellini M, Biagi S, Stasi C, et al. Gastrointestinal manifestations in myotonic muscular dystrophy. World J Gastroenterol. 2006;12(12):1821-1828.
Kraus D, Wong BL, Horn PS, Kaul A. Constipation in Duchenne muscular dystrophy: prevalence, diagnosis, and treatment. J Pediatr. 2016;171:183-188.
Askeland EJ, Arlen AM, Erickson BA, Mathews KD, Cooper CS. Urological manifestations of Duchenne muscular dystrophy. J Urol. 2013;190(4):1523-1528.
Wijk EV, Messelink BJ, Heijnen L, de Groot IJM. Prevalence and psychosocial impact of lower urinary tract symptoms in patients with Duchenne muscular dystrophy. Neuromuscul Disord. 2009;19:754-758.
Mul K, Berggren KN, Sills MY, McCalley A, et al. Effects of weakness of orofacial muscles on swallowing and communication in FSHD. Neurology. 2019;92(9):E957-E963.
Wohlgemuth M, De Swart BJM, Kalf JG, Joosten FBM, Van Der Vliet AM, Padberg GW. Dysphagia in facioscapulohumeral muscular dystrophy. Neurology. 2006;66(12):1926-1928.