Purpose: The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy. Methods: The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form. We assessed age distribution, motor function, and the need for respiratory and nutritional support to evaluate their prevalence in different age and functional subgroups. Results: The estimated prevalence was 1.65/100,000 (3.4/100,000 males). There were 972 boys and adults with a confirmed diagnosis of Duchenne, of age ranging between 6 months and 48 years (mean = 16.5). Over 59% were below the age of 18 years and the remaining 41% were adults. Over 43% were ambulant and 57% non-ambulant; 14.7% were steroids naive (mean 20.6 years), 75% are currently on steroids (mean 14.6 years) with 604 on the daily regime, 126 intermittent. Nearly 73% did not require any ventilatory support, 16% had NIV ≤ 12 h, 9% > 12 h, and 1.4% had a tracheostomy. More than 82% did not require any nutritional support, 13% required food modification/semisolid and 4.4% had a G-tube. Conclusions: Our findings provide information to be used not only for epidemiological purposes but also for possible trial design to include older non-ambulant patients who until recently have been excluded and for whom clinical information is limited. (Table presented.)
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey / Capasso, A.; Cicala, G.; Ricci, M.; Pane, M.; D'Amico, A.; Bruno, C.; Sansone, V. A.; Messina, S.; Bello, L.; Pegoraro, E.; D'Angelo, M. G.; Masson, R.; Berardinelli, A.; Pini, A.; Ricci, F.; Mongini, T. E.; Coccia, M.; Nigro, V.; Trabacca, A.; Filosto, M.; Comi, G.; Magri, F.; Barp, A.; Battini, R.; Previtali, S. C.; Valentino, M. L.; Diella, E.; Dosi, C.; Ruggiero, L.; Siciliano, G.; Ricci, G.; Catteruccia, M.; Arpaia, C.; Coratti, G.; Norcia, G.; Bonanno, S.; Verriello, L.; Agosto, C.; Varone, A.; Ferlini, A.; Maioli, M. A.; Brogna, C.; Siliquini, S.; Bruno, I.; Panicucci, C.; Allegra, C.; Albamonte, E.; Mercuri, E.; Bruno, G.; Ferrero, A.; Zambon, A. A.; Zuccarino, R.; Gardani, A.; Damioli, S.; Nastasi, A.; Sframeli, M.; Zanin, R.; Giannotta, M.; Trucco, F.; Pedemonte, M.; de Luca, G.; Bertini, E.; Maggi, L.; Buchignani, B.; Stanca, G.; Pera, M. C.; Ferraroli, E.; Lucibello, S.; Antonaci, L.; Cutrona, C.; Leone, D.; Palermo, C.. - In: EUROPEAN JOURNAL OF PEDIATRICS. - ISSN 0340-6199. - 184:1(2025). [10.1007/s00431-024-05903-x]
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey
Pera M. C.;
2025-01-01
Abstract
Purpose: The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy. Methods: The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form. We assessed age distribution, motor function, and the need for respiratory and nutritional support to evaluate their prevalence in different age and functional subgroups. Results: The estimated prevalence was 1.65/100,000 (3.4/100,000 males). There were 972 boys and adults with a confirmed diagnosis of Duchenne, of age ranging between 6 months and 48 years (mean = 16.5). Over 59% were below the age of 18 years and the remaining 41% were adults. Over 43% were ambulant and 57% non-ambulant; 14.7% were steroids naive (mean 20.6 years), 75% are currently on steroids (mean 14.6 years) with 604 on the daily regime, 126 intermittent. Nearly 73% did not require any ventilatory support, 16% had NIV ≤ 12 h, 9% > 12 h, and 1.4% had a tracheostomy. More than 82% did not require any nutritional support, 13% required food modification/semisolid and 4.4% had a G-tube. Conclusions: Our findings provide information to be used not only for epidemiological purposes but also for possible trial design to include older non-ambulant patients who until recently have been excluded and for whom clinical information is limited. (Table presented.)I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
