Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey

期刊论文
发表日期：

2024年12月16日

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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,
Concetta Palermo,
Daniela Leone,
Costanza Cutrona,
Laura Antonaci,
Simona Lucibello,
Elisabetta Ferraroli,
Maria Carmela Pera,
Giulia Stanca,
Bianca Buchignani,
Lorenzo Maggi,
Enrico Bertini,
Giacomo de Luca,
Marina Pedemonte,
Federica Trucco,
Melania Giannotta,
Riccardo Zanin,
Maria Sframeli,
Alessandra Nastasi,
Simona Damioli,
Alice Gardani,
Riccardo Zuccarino,
Alberto A. Zambon,
Amanda Ferrero,
Giorgia Bruno

摘要

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.

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.