BMC Musculoskeletal Disorders (Jan 2024)

Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy

  • 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

DOI
https://doi.org/10.1186/s12891-023-07150-x
Journal volume & issue
Vol. 25, no. 1
pp. 1 – 9

Abstract

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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.

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