Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy
Abstract 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 spo...
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| Format: | Article |
| Language: | English |
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BMC
2024-01-01
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| Series: | BMC Musculoskeletal Disorders |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12891-023-07150-x |
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| author | Cinzia Bettio Federico Banchelli Valentina Salsi Roberto Vicini Oscar Crisafulli Lucia Ruggiero Giulia Ricci Elisabetta Bucci Corrado Angelini Angela Berardinelli Silvia Bonanno Maria Grazia D’Angelo Antonio Di Muzio Massimiliano Filosto Erica Frezza Lorenzo Maggi Tiziana Mongini Elena Pegoraro Carmelo Rodolico Marina Scarlato Gaetano Vattemi Daniele Velardo Giuliano Tomelleri Roberto D’Amico Giuseppe D’Antona Rossella Tupler |
| author_facet | Cinzia Bettio Federico Banchelli Valentina Salsi Roberto Vicini Oscar Crisafulli Lucia Ruggiero Giulia Ricci Elisabetta Bucci Corrado Angelini Angela Berardinelli Silvia Bonanno Maria Grazia D’Angelo Antonio Di Muzio Massimiliano Filosto Erica Frezza Lorenzo Maggi Tiziana Mongini Elena Pegoraro Carmelo Rodolico Marina Scarlato Gaetano Vattemi Daniele Velardo Giuliano Tomelleri Roberto D’Amico Giuseppe D’Antona Rossella Tupler |
| author_sort | Cinzia Bettio |
| collection | DOAJ |
| description | Abstract 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 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 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 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. |
| first_indexed | 2024-03-08T16:25:22Z |
| format | Article |
| id | doaj.art-61de057bf13d4fb78dcd7f9489634400 |
| institution | Directory Open Access Journal |
| issn | 1471-2474 |
| language | English |
| last_indexed | 2024-03-08T16:25:22Z |
| publishDate | 2024-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Musculoskeletal Disorders |
| spelling | doaj.art-61de057bf13d4fb78dcd7f94896344002024-01-07T12:04:26ZengBMCBMC Musculoskeletal Disorders1471-24742024-01-012511910.1186/s12891-023-07150-xPhysical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophyCinzia Bettio0Federico Banchelli1Valentina Salsi2Roberto Vicini3Oscar Crisafulli4Lucia Ruggiero5Giulia Ricci6Elisabetta Bucci7Corrado Angelini8Angela Berardinelli9Silvia Bonanno10Maria Grazia D’Angelo11Antonio Di Muzio12Massimiliano Filosto13Erica Frezza14Lorenzo Maggi15Tiziana Mongini16Elena Pegoraro17Carmelo Rodolico18Marina Scarlato19Gaetano Vattemi20Daniele Velardo21Giuliano Tomelleri22Roberto D’Amico23Giuseppe D’Antona24Rossella Tupler25Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio EmiliaUnit of Statistical and Methodological Support to Clinical Research, Azienda Ospedaliero-UniversitariaDepartment of Life Sciences, University of Modena and Reggio EmiliaUnit of Statistical and Methodological Support to Clinical Research, Azienda Ospedaliero-UniversitariaCentro di Ricerca Interdipartimentale nelle Attività Motorie e Sportive (CRIAMS)-Sport Medicine Centre, University of PaviaDepartment of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of NaplesDepartment of Clinical and Experimental Medicine, Neurological Clinic, University of PisaDepartment of Neuroscience, Mental Health and Sensory Organs, S. Andrea Hospital, University of Rome “La Sapienza”IRCCS Fondazione San Camillo HospitalUnit of Child Neurology and Psychiatry, IRCCS “C. Mondino” FoundationNeuroimmunology and Neuromuscular diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo BestaNeuroMuscular Unit, Scientific Institute IRCCS E. MedeaCenter for Neuromuscular Disease, CeSI, University “G. D’Annunzio”Neurology Clinic, University of BresciaUnit Malattie Neuromuscolari, Policlinico e Università di Roma Tor VergataNeuroimmunology and Neuromuscular diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo BestaDepartment of Neurosciences “Rita Levi Montalcini”, Center for Neuromuscular Diseases, University of TurinDepartment of Neurosciences, University of PaduaDepartment of Clinical and Experimental Medicine, University of MessinaINSPE and Division of Neuroscience, IRCCS San Raffaele Scientific InstituteDepartment of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of VeronaNeurology Unit, Foundation IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio EmiliaUnit of Statistical and Methodological Support to Clinical Research, Azienda Ospedaliero-UniversitariaCentro di Ricerca Interdipartimentale nelle Attività Motorie e Sportive (CRIAMS)-Sport Medicine Centre, University of PaviaDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio EmiliaAbstract 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 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 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 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.https://doi.org/10.1186/s12891-023-07150-xFSHDNeuromuscular diseasesSport medicinePhysical activityRare diseaseHealth promotion |
| spellingShingle | Cinzia Bettio Federico Banchelli Valentina Salsi Roberto Vicini Oscar Crisafulli Lucia Ruggiero Giulia Ricci Elisabetta Bucci Corrado Angelini Angela Berardinelli Silvia Bonanno Maria Grazia D’Angelo Antonio Di Muzio Massimiliano Filosto Erica Frezza Lorenzo Maggi Tiziana Mongini Elena Pegoraro Carmelo Rodolico Marina Scarlato Gaetano Vattemi Daniele Velardo Giuliano Tomelleri Roberto D’Amico Giuseppe D’Antona Rossella Tupler Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy BMC Musculoskeletal Disorders FSHD Neuromuscular diseases Sport medicine Physical activity Rare disease Health promotion |
| title | Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy |
| title_full | Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy |
| title_fullStr | Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy |
| title_full_unstemmed | Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy |
| title_short | Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy |
| title_sort | physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy |
| topic | FSHD Neuromuscular diseases Sport medicine Physical activity Rare disease Health promotion |
| url | https://doi.org/10.1186/s12891-023-07150-x |
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