Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

A. D'Amico, M. Catteruccia, G. Baranello, L. Politano, A. Govoni, S.C. Previtali, M. Pane, M.G. D'Angelo, C. Bruno, S. Messina, F. Ricci, E. Pegoraro, A. Pini, A. Berardinelli, K. Gorni, R. Battini, G.L. Vita, F. Trucco, M. Scutifero, R. PetilloP. D'Ambrosio, A. Ardissone, B. Pasanisi, Giuseppe Vita, T. Mongini, M. Moggio, G.P. Comi, E. Mercuri, E. Bertini

Research output: Contribution to journalArticle

Abstract

Despite all the advances in diagnosis and management of Duchenne muscular dystrophy over the past 50 years, the average age at diagnosis in most countries in the world around is still around 4–5 years. This retrospective study investigates the age at diagnosis in Italy in the past 10 years.
We report findings from 384 boys who were diagnosed with DMD from 2005 to 2014. The mean age at first medical contact, which raised the suspicion of DMD, was 31 months. The mean age at diagnosis was 41 months. The finding that more frequently brought to suspect a DMD was the incidental finding of consistent elevated creatine kinase serum level detected during routine assessments in children undergoing general anesthesia or with intercurrent illness. This was followed by motor delay and signs of muscle weakness. Initial concerns were raised by general pediatricians (29%), specialists at tertiary centers (35%) or first level hospitals (23%). In children presenting incidental elevated creatine kinase
values the diagnosis was achieved earlier than in children presenting a developmental delay. The mean age at diagnosis in our cohort was about 10–12 months lower than that reported in other countries.
Original languageEnglish
Pages (from-to)447-451
Number of pages5
JournalNeuromuscular Disorders
Volume27
Issue number5
DOIs
Publication statusPublished - 2017

    Fingerprint

Cite this