Understanding Duchenne Muscular Dystrophy: Identifying Sub-Phenotypes
Author Information
Author(s): Desguerre Isabelle, Christov Christo, Mayer Michele, Zeller Reinhard, Becane Henri-Marc, Bastuji-Garin Sylvie, Leturcq France, Chiron Catherine, Chelly Jamel, Gherardi Romain K.
Primary Institution: Necker - Enfants Malades Hospital, Paris, France
Hypothesis
The study aims to explore the clinical heterogeneity of Duchenne muscular dystrophy (DMD) and identify predictive criteria for different sub-phenotypes.
Conclusion
Duchenne muscular dystrophy can be classified into four distinct sub-phenotypes, each with varying degrees of muscle and cognitive dysfunction, which can be predicted using simple clinical criteria.
Supporting Evidence
- Patients were classified into four clusters based on their cognitive and motor outcomes.
- Group A had the most severe outcomes, while Group C had normal intelligence with delayed motor impairment.
- Predictive criteria were validated in a second series of patients.
Takeaway
Duchenne muscular dystrophy affects boys in different ways, and by looking at their early symptoms, doctors can better understand how severe their condition might be.
Methodology
A retrospective long-term follow-up study was conducted on DMD patients, evaluating motor, respiratory, cardiac, and cognitive functions over a median follow-up of 10.5 years.
Potential Biases
Potential biases may arise from the retrospective nature of the study and the lack of randomization.
Limitations
The study is retrospective and may have variable follow-up durations, leading to missing data for some patients.
Participant Demographics
The study included 75 DMD patients diagnosed between 1990 and 2000, with a mean follow-up of over 10 years.
Statistical Information
P-Value
p<0.003
Confidence Interval
95% CI 1.6–20.4
Statistical Significance
p<0.003
Digital Object Identifier (DOI)
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