Duchenne Muscular Dystrophy: Early Detection, Genetic Testing, and Becker Differential Diagnosis

Duchenne muscular dystrophy (DMD) is a devastating genetic disease that primarily affects children, characterized by the progressive loss of muscle function. Early detection is crucial for improving the prognosis and quality of life for patients. However, the differential diagnosis with Becker muscular dystrophy (BMD), a milder variant, can be challenging due to overlapping symptoms and variability in the age of onset.

Early Detection and Differential Diagnosis

Early detection of DMD relies on identifying clinical signs and confirming them through genetic testing. A common marker is elevated CK (creatine kinase), which indicates muscle damage. However, definitive confirmation is achieved through the identification of mutations in the dystrophin gene. Recent studies have shown that quantitative multiparametric magnetic resonance imaging can be an effective tool for early diagnosis, allowing for the identification of muscle changes before significant physical decline occurs [1].

The differential diagnosis between DMD and BMD is essential, as BMD presents a milder course and slower progression. The Becker differential diagnosis is based on evaluating cardiac function and the presence of partially functional dystrophin, which can be identified through muscle biopsies and genetic studies [2]. Additionally, three-dimensional speckle-tracking echocardiography has proven useful in detecting subclinical myocardial dysfunction in children with DMD, which could aid in early differentiation [3].

Conclusions

Early detection and differential diagnosis between DMD and BMD are fundamental for the proper management of these conditions. Genetic testing and advanced imaging techniques, such as magnetic resonance imaging and echocardiography, play a crucial role in identifying these diseases. Understanding the age of onset and the progression of symptoms is vital for implementing timely therapeutic interventions that can significantly improve the quality of life for patients.

Referencias

• [1] Utilization of Multi-Parametric Quantitative Magnetic Resonance Imaging in the Early Diagnosis of Duchenne Muscular Dystrophy.
• [2] A case of delayed diagnosis of Becker muscular dystrophy due to underlying developmental disorders.
• [3] Initial application of three-dimensional speckle-tracking echocardiography to detect subclinical left ventricular dysfunction and stratify cardiomyopathy associated with Duchenne muscular dystrophy in children.

Created 13/1/2025