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Updated: Apr 24, 2026
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Improving recognition of Duchenne muscular dystrophy: a retrospective case note review
Henriette J A van Ruiten1, Volker Straub1, Kate Bushby1
1MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, UK.
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.
Insights
Early Duchenne muscular dystrophy (DMD) diagnosis is crucial. This study found delays in healthcare professional engagement and creatine kinase (CK) testing, despite overall diagnostic age improvement. Screening and lower CK thresholds are recommended.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Duchenne muscular dystrophy (DMD) diagnosis age has seen minimal improvement over 30 years.
- Current diagnostic age averages 4.5-4.11 years.
Purpose of the Study:
- To review the diagnostic process for DMD in boys without a family history.
- Identify diagnostic delays and suggest improvements.
Main Methods:
- Retrospective case note review.
- Study conducted at a tertiary neuromuscular disease center in England.
- Included 20 boys diagnosed with DMD without a family history in the past 10 years.
Main Results:
- Mean age at first symptoms: 32.5 months (2.7 years).
- Mean age at first healthcare professional contact: 42.9 months.
- Mean age for creatine kinase (CK) testing: 50.1 months.
- Mean age at DMD diagnosis: 51.7 months (4.3 years).
- Total delay from parental concern to diagnosis: 19.2 months (1.6 years).
Conclusions:
- The study indicates an improvement in DMD diagnostic age.
- Delays persist in healthcare professional presentation and CK testing.
- Recommendations include screening via Child Health Surveillance and lowering CK testing thresholds in primary care using the MUSCLE mnemonic.
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