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Multicenter Study
. 2024 Dec 16;184(1):86.
doi: 10.1007/s00431-024-05903-x.

Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey

Anna Capasso  1   2 , Gianpaolo Cicala  1   2 , Martina Ricci  1   2 , Marika Pane  1   2 , Adele D'Amico  3 , Claudio Bruno  4 , Valeria Ada Sansone  5 , Sonia Messina  6 , Luca Bello  7 , Elena Pegoraro  7 , Maria Grazia D'Angelo  8 , Riccardo Masson  9 , Angela Berardinelli  10 , Antonella Pini  11 , Federica Ricci  12 , Tiziana Enrica Mongini  13 , Michela Coccia  14 , Vincenzo Nigro  15 , Antonio Trabacca  16 , Massimiliano Filosto  17   18 , Giacomo Comi  19   20 , Francesca Magri  19   20 , Andrea Barp  21 , Roberta Battini  22   23 , Stefano Carlo Previtali  24   25 , Maria Lucia Valentino  26   27 , Eleonora Diella  8 , Claudia Dosi  9 , Lucia Ruggiero  28 , Gabriele Siciliano  29 , Giulia Ricci  29 , Michela Catteruccia  3 , Chiara Arpaia  1   2 , Giorgia Coratti  1   2 , Giulia Norcia  2 , Silvia Bonanno  30 , Lorenzo Verriello  31 , Caterina Agosto  32 , Antonio Varone  33 , Alessandra Ferlini  34 , Maria Antonietta Maioli  35 , Claudia Brogna  1   2 , Sabrina Siliquini  36 , Irene Bruno  37 , Chiara Panicucci  4 , Cosimo Allegra  6 , Emilio Albamonte  5 , Eugenio Mercuri  38   39 ; Italian DMD group
Collaborators, Affiliations
Multicenter Study

Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey

Anna Capasso et al. Eur J Pediatr. .

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. 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.

Keywords: Duchenne muscular dystrophy; Prevalence; Respiratory.

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Conflict of interest statement

Declarations. Ethics approval: This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of the Catholic University of Rome. Consent to participate: Informed consent was obtained from all individual participants included in the study. Competing Interests: The authors declare no competing interests.

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