Duchenne Muscular Dystrophy (DMD)

What is Duchenne Muscular Dystrophy (DMD)?

Duchenne Muscular Dystrophy (DMD) is a genetic disease that usually affects boys and causes muscles to weaken and lose function.

DMD is caused by a mutation in the DMD gene. This gene is responsible for the production of a protein called dystrophin, which is important for the normal function of muscle cells. A mutation in the DMD gene disrupts the normal function of the dystrophin protein, eventually causing the muscles to weaken and lose their function.

DMD Test Turkey

Diagnosis and management by DMD testing emphasizes the importance of genetic testing. Genetic testing can identify certain mutations in the DMD gene, which plays a critical role in diagnosing and treating the disease.

Specifically, genetic testing can be used to confirm a diagnosis of the disease in people who show symptoms of DMD but may be caused by another condition. Also, genetic testing can help identify family members at risk for DMD.

How is the DMD Test Done?

Private Ankara Genetics Laboratory has the capacity to produce fast and high quality results in DMD genetic tests. Our laboratory helps patients and their families avoid unnecessary stress and uncertainty by ensuring that genetic testing is done accurately and in a timely manner. In addition, our lab's genetic counselors work with patients and their families to understand the test results and learn what they mean.

The management of DMD depends on the results of genetic testing and the patient's symptoms. Treatment usually aims to manage symptoms and improve quality of life. However, the treatment plan must be customized for each patient, and genetic test results play an important role in creating this customized treatment plan.