Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.

Anna Capasso,Gianpaolo Cicala,Martina Ricci,Marika Pane,Adele D'Amico,Claudio Bruno,Valeria Ada Sansone,Sonia Messina,Luca Bello,Elena Pegoraro,Maria Grazia D'Angelo,Riccardo Masson,Angela Berardinelli,Antonella Pini,Federica Ricci,Tiziana Enrica Mongini,Michela Coccia,Vincenzo Nigro,Antonio Trabacca,Massimiliano Filosto,Giacomo Comi,Francesca Magri,Andrea Barp,Roberta Battini,Stefano Carlo Previtali,Maria Lucia Valentino,Eleonora Diella,Claudia Dosi,Lucia Ruggiero,Gabriele Siciliano,Giulia Ricci,Michela Catteruccia,Chiara Arpaia,Giorgia Coratti,Giulia Norcia,Silvia Bonanno,Lorenzo Verriello,Caterina Agosto,Antonio Varone,Alessandra Ferlini,Maria Antonietta Maioli,Claudia Brogna,Sabrina Siliquini,Irene Bruno,Chiara Panicucci,Cosimo Allegra,Emilio Albamonte,Eugenio Mercuri,Italian Dmd Group

doi:10.1007/s00431-024-05903-x

Abstract

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. 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. 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 6months and 48years (mean = 16.5). Over 59% were below the age of 18years and the remaining 41% were adults. Over 43% were ambulant and 57% non-ambulant; 14.7% were steroids naive (mean 20.6years), 75% are currently on steroids (mean 14.6years) with 604 on the daily regime, 126 intermittent. Nearly 73% did not require any ventilatory support, 16% had NIV ≤ 12h, 9% > 12h, 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. 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. What is Known • Duchenne muscular dystrophy is a progressive disorder associated with reduced survival. • As part of the disorder there is also a progressive loss of important milestones, including loss of ambulation, and increased need for respiratory and nutritional support. What is New • Our nationwide survey provides prevalence, age distribution, and functional status for Duchenne muscular dystrophyin Italy including both boys and adults. • Our findings can be used for epidemiological purposes and for possible trial design.

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