Evidence-based consensus and systematic review on reducing the time to diagnosis of Duchenne muscular dystrophy
A Aartsma-Rus, M Hegde, T Ben-Omran… - The Journal of …, 2019 - jpeds.com
Methods The Delphi Consensus Initiative presented here is focused on how to reduce the
time to diagnosis of DMD. The development process for this initiative is summarized in …
time to diagnosis of DMD. The development process for this initiative is summarized in …
Recent developments in the management of Duchenne muscular dystrophy
M Guglieri, K Bushby - Paediatrics and Child Health, 2015 - Elsevier
Duchenne muscular dystrophy (DMD) is the most common severe heritable muscle disorder
of childhood. Affected boys show first symptoms around the age of 2–5 years with …
of childhood. Affected boys show first symptoms around the age of 2–5 years with …
Improving recognition of Duchenne muscular dystrophy: a retrospective case note review
HJA van Ruiten, V Straub, K Bushby… - Archives of disease in …, 2014 - adc.bmj.com
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 …
of Duchenne muscular dystrophy (DMD)(mean age of 4.5–4.11 years). Aim To review the …
Neurology care, diagnostics, and emerging therapies of the patient with Duchenne muscular dystrophy
Duchenne muscular dystrophy is the most common form of childhood muscular dystrophy. A
mutation in the DMD gene disrupts dystrophin (protein) production, causing damage to …
mutation in the DMD gene disrupts dystrophin (protein) production, causing damage to …
Parental reflections on the diagnostic process for Duchenne muscular dystrophy: a qualitative study
RM Bendixen, A Houtrow - Journal of Pediatric Health Care, 2017 - Elsevier
Purpose Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease with no
known cure. We sought to update over 30 years of research reporting on the diagnostic …
known cure. We sought to update over 30 years of research reporting on the diagnostic …
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care
N Armstrong, R Schrader, R Fischer… - American Journal of …, 2022 - Wiley Online Library
Duchenne muscular dystrophy (DMD) is a progressive, fatal neuromuscular disorder
typically diagnosed between 4 and 5 years of age. DMD currently has five FDA approved …
typically diagnosed between 4 and 5 years of age. DMD currently has five FDA approved …
Developmental progress in Duchenne muscular dystrophy: lessons for earlier detection
EP Parsons, AJ Clarke, DM Bradley - European Journal of Paediatric …, 2004 - Elsevier
Objective. To address the issue of diagnostic delay in Duchenne Muscular Dystrophy (DMD)
using developmental data from a cohort of affected boys detected by newborn screening …
using developmental data from a cohort of affected boys detected by newborn screening …
Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications
E Mercuri, M Pane, G Cicala, C Brogna… - Frontiers in …, 2023 - frontiersin.org
Despite the early onset of clinical signs suggestive of Duchenne muscular dystrophy (DMD),
a diagnosis is often not made until four years of age or older, with a diagnostic delay of up to …
a diagnosis is often not made until four years of age or older, with a diagnostic delay of up to …
Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
E Ciafaloni, DJ Fox, S Pandya, CP Westfield… - The Journal of …, 2009 - Elsevier
OBJECTIVE: To identify key factors for the delay in diagnosis of Duchenne muscular
dystrophy (DMD) without known family history. STUDY DESIGN: The cohort comes from the …
dystrophy (DMD) without known family history. STUDY DESIGN: The cohort comes from the …
Clinical practice guidelines for the diagnosis and management of Duchenne muscular dystrophy: a scoping review
M Malaga, A Rodriguez-Calienes… - Frontiers in …, 2024 - frontiersin.org
Introduction Our objective was to identify recent CPGs for the diagnosis and management of
DMD and summarize their characteristics and reliability. Methods We conducted a scoping …
DMD and summarize their characteristics and reliability. Methods We conducted a scoping …