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Lookup NU author(s): Dr Henriette van Ruiten, Professor Volker StraubORCiD, Emerita Professor Katherine Bushby, Professor Michela GuglieriORCiD
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).
Background Over the last 30 years, there has been little improvement in the age of diagnosis of Duchenne muscular dystrophy (DMD) (mean age of 4.5-4.11 years).Aim To review the diagnostic process for DMD in boys without a family history in order to identify where delays occur and suggest areas for improvement.Design A retrospective case note review.Setting A tertiary centre for neuromuscular diseases in England.Patients All boys without family history diagnosed with DMD in the last 10 years (n=20).Outcome measures Mean age at four key steps in the diagnostic pathway of DMD.Results (1) Age at first reported symptoms of DMD was 32.5 (8-72) months (2.7 years). (2) First engagement of a healthcare professional was at 42.9 (10-90) months. (3) Creatine kinase (CK) levels were checked at 50.1 (14-91) months. (4) Diagnosis of DMD was confirmed at 51.7 (16-91) months (4.3 years). The total delay from parental concern to diagnosis was 19.2 (4-50) months (1.6 years).Conclusions Our study shows an improvement in the age of diagnosis of DMD although there continues to be a delay in presentation to a health professional and a delay in obtaining a CK test. To reduce these delays, we propose screening for DMD as part of the Child Health Surveillance Programme, in addition to lowering the threshold for CK testing in primary care by promoting a new DMD mnemonic MUSCLE. An earlier diagnosis of DMD will allow timely access to genetic counselling, standards of care and clinical trials.
Author(s): van Ruiten HJA, Straub V, Bushby K, Guglieri M
Publication type: Article
Publication status: Published
Journal: Archives of Disease in Childhood
Year: 2014
Volume: 99
Issue: 12
Pages: 1074-1077
Print publication date: 01/12/2014
Online publication date: 03/09/2014
Acceptance date: 04/08/2014
Date deposited: 16/09/2015
ISSN (print): 0003-9888
ISSN (electronic): 1468-2044
Publisher: BMJ Publishing Group
URL: http://dx.doi.org/10.1136/archdischild-2014-306366
DOI: 10.1136/archdischild-2014-306366
PubMed id: 25187493
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