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Duchenne Muscular Dystrophy Drug Discovery Service

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Introduction of Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a severe progressive muscle-wasting disease. This disease primarily affects boys and is much rarer in girls. Muscle weakness usually begins around age four and worsens rapidly. Till now, there is no known cure, while gene therapy as a potential treatment is in the early stages of research. With optimal medical care, most DMD patients die of heart failure and/or respiratory failure between the ages of 20 and 40.

Symptoms of Duchenne Muscular Dystrophy

  • Muscle weakness
  • Fatigue
  • Difficulty with motor skills
  • Falls
  • Cardiomyopathy, especially dilated cardiomyopathy
  • Occasional congestive heart failure or arrhythmia

Fig.1 Cross-sectional staining of healthy muscle and skeletal muscle from a patient with Duchenne muscular dystrophy.Fig.1 Cross-sectional staining of healthy muscle and skeletal muscle from a patient with Duchenne muscular dystrophy. (Duan, 2021)

Cause of Duchenne Muscular Dystrophy

DMD is always caused by mutations in DMD that encode dystrophin. These mutations would prevent the generation of the muscle isoform of dystrophin (Dp427m) and also result in Becker muscular dystrophy (BMD). BMD is a subtype of DMD and generally presents as a milder form of muscular dystrophy. Converting the DMD type to the BMD type is the focus of research to improve symptoms. In DMD, frameshifting mutations and nonsense mutations would result in non-functional and unstable dystrophin. Studies have shown that thousands of different mutations can be detected in DMD. Among them, the proportion of deletion mutations is 60-70%, the proportion of repeat mutations is 20%, and the remaining 5-10% are point mutations, small deletions, or insertions.

Management of Duchenne Muscular Dystrophy

Despite significant therapeutic advances over the past few decades, DMD remains incurable. Nevertheless, based on the published best care guidelines, there are a series of multidisciplinary medical, surgical, and rehabilitative approaches to improve quality of life and longevity. The primary care modalities include respiratory care, cardiac care, orthopedic management, endocrinological management, gastrointestinal management, urological management, as well as neurodevelopmental and neuropsychological management. Currently, therapeutic development for DMD is primarily focused on restoring dystrophin production and reducing the secondary consequences of dystrophin deficiency. For example, stem cell transplantation can be used to improve muscle quality, while gene therapy aims to restore the missing dystrophin.

Duchenne Muscular Dystrophy Drug Discovery Service

Equipped with world-leading platforms and extensive experience, Creative Biolabs provides one-stop drug discovery service for our clients. From the basic target identification to the final IND-enabling, wee can meet all the needs of customers.

Duchenne Muscular Dystrophy Drug Discovery Service-CBL.

Creative Biolabs is a leading service provider that focuses on neuroscience research. We can assist you in designing the best research outline customized to meet the requirements of your programs. If you are interested in our services and products, please do not hesitate to contact us for more details.


  1. Duan, D.; et al. Duchenne muscular dystrophy. Nature Reviews Disease Primers. 2021, 7(1): 1-19.
For Research Use Only. Not For Clinical Use.
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