Pubblicazioni

Autori:

Bettio, Cinzia; Banchelli, Federico; Salsi, Valentina; Vicini, Roberto; Crisafulli, Oscar; Ruggiero, Lucia; Ricci, Giulia; Bucci, Elisabetta; Angelini, Corrado; Berardinelli, Angela; Bonanno, Silvia; D'Angelo, Maria Grazia; Di Muzio, Antonio; Filosto, Massimiliano; Frezza, Erica; Maggi, Lorenzo; Mongini, Tiziana; Pegoraro, Elena; Rodolico, Carmelo; Scarlato, Marina; Vattemi, Gaetano; Velardo, Daniele; Tomelleri, Giuliano; D'Amico, Roberto; D'Antona, Giuseppe; Tupler, Rossella

Titolo:

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

Anno:

2024

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

Elettronico

Referee:

Sì

Nome rivista:

BMC MUSCULOSKELETAL DISORDERS

ISSN Rivista:

1471-2474

N° Volume:

25

Numero o Fascicolo:

35

Intervallo pagine:

1-9

Parole chiave:

FSHD; Health promotion; Neuromuscular diseases; Physical activity; Rare disease; Sport medicine

Breve descrizione dei contenuti:

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.

Pagina Web:

https://doi.org/10.1186/s12891-023-07150-x

Id prodotto:

136998

Handle IRIS:

11562/1116767

ultima modifica:

10 gennaio 2024

Citazione bibliografica:

Bettio, Cinzia; Banchelli, Federico; Salsi, Valentina; Vicini, Roberto; Crisafulli, Oscar; Ruggiero, Lucia; Ricci, Giulia; Bucci, Elisabetta; Angelini, Corrado; Berardinelli, Angela; Bonanno, Silvia; D'Angelo, Maria Grazia; Di Muzio, Antonio; Filosto, Massimiliano; Frezza, Erica; Maggi, Lorenzo; Mongini, Tiziana; Pegoraro, Elena; Rodolico, Carmelo; Scarlato, Marina; Vattemi, Gaetano; Velardo, Daniele; Tomelleri, Giuliano; D'Amico, Roberto; D'Antona, Giuseppe; Tupler, Rossella, Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy «BMC MUSCULOSKELETAL DISORDERS» , vol. 25 , n. 35 , 2024 , pp. 1-9

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