Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. Dystrophin is one of the largest genes in the body with 79 exons. Any deletion, duplication or nonsense mutation on one or more exons cause this rare disease.
As the genetic disorder occurs on the X-chromosome, it primarily affects males while females are typically carriers.
There are more than 5000 genetically confirmed DMD patients living in Turkey.
This site has detailed information about DMD in Turkish language. We suggest you to visit https://www.worldduchenne.org for more information in English or you may switch to Turkish content. Should you need any further information, please do not hesitate to contact us.