Duchenne muscular dystrophy (DMD) is a severe genetic disease characterized by progressive muscle degeneration and weakness. With a team of researchers and scientists well versed in DMD, our company is dedicated to developing advanced IVD diagnostic products for DMD. We also provide point-of-care testing and companion diagnostic development services to facilitate rapid diagnosis and personalized treatment of DMD.
Introduction to Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a severe and progressive genetic disorder characterized by muscle weakness that predominantly affects boys. The onset of symptoms typically occurs in early childhood, around the age of four, and rapidly progresses, leading to significant disability. The incidence of DMD is relatively high, with an estimated 1 in every 3,600 live male births affected by the disease. Some studies indicate that in the United States, the prevalence of DMD is 2 individuals per 10,000 people.
Fig. 1 Dystrophin-associated protein complex in healthy and Duchenne muscular dystrophy (DMD) muscle. (Kodippili K, Rudnicki M A., 2023)
Pathophysiology of Duchenne Muscular Dystrophy
The pathogenesis of Duchenne muscular dystrophy (DMD) is primarily attributed to mutations in the dystrophin gene located on the X chromosome. These mutations result in the absence or dysfunction of the dystrophin protein.
Absence or Dysfunction of the Dystrophin Protein
Dystrophin is a large structural protein found in muscle cells that helps anchor the cytoskeleton of muscle fibers to the extracellular matrix. This linkage is crucial for stabilizing the muscle cell membrane during muscle contractions. In the absence of functional dystrophin, muscle cells are more susceptible to damage, leading to the DMD pathology.
Muscle Cell Damage and Inflammation
The reduced quantity or impaired function of dystrophin proteins leads to sustained damage to muscle cells. This triggers an inflammatory response, exacerbating muscle degeneration and causing gradual weakening of muscle tissue in DMD patients.
IVD Products for Duchenne Muscular Dystrophy
In vitro diagnostics (IVD) plays a vital role in confirming Duchenne muscular dystrophy (DMD), identifying dystrophin gene mutations, assessing dystrophin function, tracking disease progression, and informing treatment decisions. There are many IVD products for DMD on the market, which greatly facilitate the early detection and accurate diagnosis of DMD.
| Product Name |
Detection Methods |
Applications |
| DMD Mutation PCR Test Kit |
Multiplex PCR |
The kit allows rapid detection of dystrophin gene deletions by multiplex PCR and confirmation by agarose gel analysis. |
| Neonatal Creatine Kinase - MM Kit |
Fluorescence Immunoassay |
The kit measures muscle specific creatine kinase in dried blood spots, helping to detect newborns affected by DMD. |
| Next-Generation Sequencing (NGS) Panels |
Next-Generation Sequencing |
NGS panels designed specifically for DMD offer a comprehensive approach to genetic testing by sequencing the entire dystrophin gene to identify a broad spectrum of pathogenic variants. |
Our Services
Committed to enhancing diagnostic capabilities for rare genetic disorders like Duchenne muscular dystrophy (DMD), our company utilizes state-of-the-art technologies and scientific acumen to tailor dystrophin gene test kits and creatine kinase test kits for precise DMD diagnosis. When paired with complementary diagnostic devices, these kits deliver highly sensitive and specific detection of DMD, laying a solid groundwork for prompt intervention.
Optional IVD Products
- Nucleic acid extraction reagents
- PCR reaction reagents
- Quality control products
- Dystrophin gene test kits
- Creatine kinase (CK) test kits
- Newborn DMD screening kits
- Customized NGS panels
- Nucleic acid extraction instrument
- PCR instrument
- And More
To expedite prompt diagnosis and personalized treatment for DMD, we provide point-of-care testing and companion diagnostic development services. These services play a crucial role in enhancing the efficiency and accuracy of DMD diagnostics, enabling personalized care strategies for patients.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Kodippili K, Rudnicki M A. Satellite cell contribution to disease pathology in Duchenne muscular dystrophy[J]. Frontiers in Physiology, 2023, 14: 1180980.
- Babbs A, Chatzopoulou M, Edwards B, et al. From diagnosis to therapy in Duchenne muscular dystrophy[J]. Biochemical Society Transactions, 2020, 48(3): 813-821.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
