Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.
FSHD
Health promotion
Neuromuscular diseases
Physical activity
Rare disease
Sport medicine
Journal
BMC musculoskeletal disorders
ISSN: 1471-2474
Titre abrégé: BMC Musculoskelet Disord
Pays: England
ID NLM: 100968565
Informations de publication
Date de publication:
05 Jan 2024
05 Jan 2024
Historique:
received:
15
05
2023
accepted:
22
12
2023
medline:
6
1
2024
pubmed:
6
1
2024
entrez:
5
1
2024
Statut:
epublish
Résumé
In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective cohort study concerning the previous practice of sports and, among them, those with medium-high cardiovascular commitment in clinically categorized carriers of a D4Z4 reduced allele (DRA). People aged between 18 and 60 were recruited as being DRA carriers. Subcategory (classical phenotype, A; incomplete phenotype, B; asymptomatic carriers, C; complex phenotype, D) and FSHD score, which measures muscle functional impairment, were assessed for all participants. Information on PAs was retrieved by using an online survey dealing with the practice of sports at a young age. 368 participants were included in the study, average age 36.6 years (SD = 9.4), 47.6% male. The FSHD subcategory A was observed in 157 (42.7%) participants with average (± SD) FSHD score of 5.8 ± 3.0; the incomplete phenotype (category B) in 46 (12.5%) participants (average score 2.2 ± 1.7) and the D phenotype in 61 (16.6%, average score 6.5 ± 3.8). Asymptomatic carriers were 104 (subcategory C, 28.3%, score 0.0 ± 0.2). Time from symptoms onset was higher for patients with A (15.8 ± 11.1 years) and D phenotype (13.3 ± 11.9) than for patients with B phenotype (7.3 ± 9.0). The practice of sports was associated with lower FSHD score (-17%) in participants with A phenotype (MR = 0.83, 95% CI = 0.73-0.95, p = 0.007) and by 33% in participants with D phenotype (MR = 0.67, 95% CI = 0.51-0.89, p = 0.006). Conversely, no improvement was observed in participants with incomplete phenotype with mild severity (B). PAs at a young age are associated with a lower clinical score in the adult A and D FSHD subcategories. These results corroborate the need to consider PAs at the young age as a fundamental indicator for the correct clinical stratification of the disease and its possible evolution.
Sections du résumé
BACKGROUND
BACKGROUND
In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective cohort study concerning the previous practice of sports and, among them, those with medium-high cardiovascular commitment in clinically categorized carriers of a D4Z4 reduced allele (DRA).
METHODS
METHODS
People aged between 18 and 60 were recruited as being DRA carriers. Subcategory (classical phenotype, A; incomplete phenotype, B; asymptomatic carriers, C; complex phenotype, D) and FSHD score, which measures muscle functional impairment, were assessed for all participants. Information on PAs was retrieved by using an online survey dealing with the practice of sports at a young age.
RESULTS
RESULTS
368 participants were included in the study, average age 36.6 years (SD = 9.4), 47.6% male. The FSHD subcategory A was observed in 157 (42.7%) participants with average (± SD) FSHD score of 5.8 ± 3.0; the incomplete phenotype (category B) in 46 (12.5%) participants (average score 2.2 ± 1.7) and the D phenotype in 61 (16.6%, average score 6.5 ± 3.8). Asymptomatic carriers were 104 (subcategory C, 28.3%, score 0.0 ± 0.2). Time from symptoms onset was higher for patients with A (15.8 ± 11.1 years) and D phenotype (13.3 ± 11.9) than for patients with B phenotype (7.3 ± 9.0). The practice of sports was associated with lower FSHD score (-17%) in participants with A phenotype (MR = 0.83, 95% CI = 0.73-0.95, p = 0.007) and by 33% in participants with D phenotype (MR = 0.67, 95% CI = 0.51-0.89, p = 0.006). Conversely, no improvement was observed in participants with incomplete phenotype with mild severity (B).
CONCLUSIONS
CONCLUSIONS
PAs at a young age are associated with a lower clinical score in the adult A and D FSHD subcategories. These results corroborate the need to consider PAs at the young age as a fundamental indicator for the correct clinical stratification of the disease and its possible evolution.
Identifiants
pubmed: 38183077
doi: 10.1186/s12891-023-07150-x
pii: 10.1186/s12891-023-07150-x
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
35Subventions
Organisme : Regione Emilia Romagna, Italy
ID : POR/FSE 2014/2020
Informations de copyright
© 2024. The Author(s).
Références
Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet. 2009;75(6):550–5. https://doi.org/10.1111/j.1399-0004.2009.01158.x . Epub 2009 Mar 23. PMID: 19320656.
doi: 10.1111/j.1399-0004.2009.01158.x
pubmed: 19320656
Ricci G, Scionti I, Sera F, Govi M, D’Amico R, Frambolli I, et al. Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain. 2013;136:3408–17.
doi: 10.1093/brain/awt226
pubmed: 24030947
pmcid: 3808686
Ricci G, Mele F, Govi M, Ruggiero L, Sera F, Vercelli L, et al. Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis. Sci Rep. 2020;10(1):21648. https://doi.org/10.1038/s41598-020-78578-7 .
doi: 10.1038/s41598-020-78578-7
pubmed: 33303865
pmcid: 7730397
Ruggiero L, Mele F, Manganelli F, Bruzzese D, Ricci G, Vercelli L, et al. Phenotypic variability among patients with D4Z4 reduced Allele Facioscapulohumeral muscular dystrophy. JAMA Netw Open. 2020;3(5):e204040. https://doi.org/10.1001/jamanetworkopen.2020.4040 .
doi: 10.1001/jamanetworkopen.2020.4040
pubmed: 32356886
pmcid: 7195625
Vercelli L, Mele F, Ruggiero L, Sera F, Tripodi S, Ricci G, et al. A 5-year clinical follow-up study from the Italian National Registry for FSHD. J Neurol. 2021;268(1):356–66.
doi: 10.1007/s00415-020-10144-7
pubmed: 32813049
Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006;34(1):1–15. https://doi.org/10.1002/mus.20522 .
doi: 10.1002/mus.20522
pubmed: 16508966
Padberg GW. Facioscapulohumeral Disease. M.D. Thesis. The Netherlands: Leiden University, 1982;2.
Ricci G, Ruggiero L, Vercelli L, Sera F, Nikolic A, Govi M, et al. A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. J Neurol. 2016;263(6):1204–14.
doi: 10.1007/s00415-016-8123-2
pubmed: 27126453
pmcid: 4893383
American College of Sports Medicine. https://www.acsm.org/education-resources/books/guidelines-exercise-testing-prescription . Accessed 3 Nov 2023.
Voet NBM. Exercise in neuromuscular disorders: a promising intervention. Acta Myol Myopathies Cardiomyopathies off J Mediterr Soc Myol. 2019;38(4):207–14.
Voet NB, van der Kooi EL, van Engelen BG, Geurts AC. Strength training and aerobic exercise training for muscle disease. Cochrane Neuromuscular Group, ed. Cochrane Database Syst Rev. 2019;2019(12). https://doi.org/10.1002/14651858.CD003907.pub5 .
Ruiz JR, Castro-Piñero J, Artero EG, Ortega FB, Sjöström M, Suni J, Castillo MJ. Predictive validity of health-related fitness in youth: a systematic review. Br J Sports Med. 2009;43(12):909–23.
doi: 10.1136/bjsm.2008.056499
pubmed: 19158130
da Silva GCR, Tebar WR, Saraiva BTC, Farah BQ, Vanderlei LCM, Ferrari G, et al. Association of Early Sports Practice with Cardiovascular Risk factors in Community-Dwelling adults: a Retrospective Epidemiological Study. Sports Med Open. 2023;9(1):15. https://doi.org/10.1186/s40798-023-00562-y .
doi: 10.1186/s40798-023-00562-y
pubmed: 36802314
pmcid: 9943807
García-Hermoso A, Ramírez-Campillo R, Izquierdo M. Is Muscular Fitness Associated with Future Health benefits in children and adolescents? A systematic review and Meta-analysis of Longitudinal studies. Sports Med. 2019;49(7):1079–94.
doi: 10.1007/s40279-019-01098-6
pubmed: 30953308
Bettio C, Salsi V, Orsini M, Calanchi E, Magnotta L, Gagliardelli L, et al. The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare Disease. Orphanet J Rare Dis. 2021;16(1):470. https://doi.org/10.1186/s13023-021-02100-z .
doi: 10.1186/s13023-021-02100-z
pubmed: 34736505
pmcid: 8567605
Mosoi AA, Beckmann J, Mirifar A, Martinent G, Balint L. Influence of Organized vs non Organized Physical Activity on School Adaptation Behavior. Front Psychol. 2020. https://doi.org/10.3389/fpsyg.2020.550952 .
doi: 10.3389/fpsyg.2020.550952
pubmed: 33391139
pmcid: 7773922
von Elm E, Altman DG, Egger M, Pocock SJ, Gøtzsche PC, Vandenbroucke JP, et al. The strengthening the reporting of Observational studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies. J Clin Epidemiol. 2008;61(4):344–9.
doi: 10.1016/j.jclinepi.2007.11.008
Italian National Institute of Statistics. https://www.sport.governo.it/it/comunicazione-ed-eventi/studi-ricerche-ed-analisi/sport-attivita-fisica-sedentarieta/ . Accessed 3 Nov 2023.
Cardiovascular Guidelines for Eligibility in Competitive Sports. (COCIS – 4th ed.) [in Italian]. Med Sport 2010; 63:5–136.
Pedersen BK, Saltin B. Exercise as medicine - evidence for prescribing exercise as therapy in 26 different chronic Diseases. Scand J Med Sci Sports. 2015. https://doi.org/10.1111/sms.12581 .
doi: 10.1111/sms.12581
pubmed: 26606383
Andersen G, Prahm KP, Dahlqvist JR, Citirak G, Vissing J. Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy: RCT study. Neurology. 2015;85(5):396–403.
doi: 10.1212/WNL.0000000000001808
pubmed: 26156512
Bankolé LC, Millet GY, Temesi J, Bachasson D, Ravelojaona M, Wuyam B, et al. Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral muscular dystrophy: a randomized controlled trial. Med (Baltim). 2016;95(31):e4497. https://doi.org/10.1097/MD.0000000000004497 .
doi: 10.1097/MD.0000000000004497
Andersen G, Heje K, Buch AE, Vissing J. High-intensity interval training in facioscapulohumeral muscular dystrophy type 1: a randomized clinical trial. J Neurol. 2017;264(6):1099–106.
doi: 10.1007/s00415-017-8497-9
pubmed: 28470591
Koopman R, van Loon LJ. Aging, exercise, and muscle protein metabolism. J Appl Physiol (1985). 2009;106(6):2040–8. https://doi.org/10.1152/japplphysiol.91551.2008 .
doi: 10.1152/japplphysiol.91551.2008
pubmed: 19131471
Phillips BE, Williams JP, Gustafsson T, Bouchard C, Rankinen T, Knudsen S, et al. Molecular networks of human muscle adaptation to exercise and age. PLoS Genet. 2013. https://doi.org/10.1371/journal.pgen.1003389 .
doi: 10.1371/journal.pgen.1003389
pubmed: 23785293
pmcid: 3681718