General Information About Duchenne Muscular Dystrophy
Disease Details and Frequently Asked Questions
It is a genetic disorder where, due to a mutation in the 'dystrophin' gene that protects muscle tissue, the muscles are damaged every time they contract, slowly losing their strength and being replaced by fat tissue.
The gene causing the disease is carried on the X chromosome. Since boys only have one X chromosome, if the gene is defective, the disease appears. In females, the other healthy X chromosome masks the disease (making them carriers).
During childhood (between ages 2-4), delayed walking, frequent falling, difficulty climbing stairs, false enlargement (pseudohypertrophy) in the calf muscles, and using the hands for support when getting up from the floor (Gowers' sign) are observed.
DMD is primarily a muscle disease. However, because the dystrophin protein is also present in the brain to some extent, mild learning or memory difficulties may be observed in approximately one-third of the patients.
An unusually high level of the creatine kinase (CK) enzyme in the blood raises suspicion. A definitive diagnosis is made by identifying the genetic mutation in the dystrophin gene through DNA analysis.
There is currently no definitive cure. To slow muscle wasting and prolong the patient's ability to walk, corticosteroid medications, physical therapy, respiratory supports, and new-generation gene therapy trials are applied.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
