Duchenne muscular dystrophy (DMD) is a genetic form of muscular dystrophy characterized by the progressive weakness and degeneration of the skeletal muscles that control movement. DMD is one of four conditions classified as a dystrophinopathy, a muscle disease that results from the deficiency of a protein called dystrophin that helps keep muscle cells intact.
To bring awareness to Duchenne muscular dystrophy, we are honored to support World Duchenne Awareness Day on September 7th. World Duchenne Awareness Day is a global day aimed at raising awareness for those affected by Duchenne muscular dystrophy.
If you’re interested in learning more about Duchenne muscular dystrophy (DMD), here are seven important facts that may be helpful.
- DMD is the most common form of muscular dystrophy, with an estimated 20,000 children being diagnosed each year globally. – MDA.org
- Because the DMD gene is located on the X-chromosome, it primarily affects males, while females typically are carriers. However, some females can experience varying degrees of physical Duchenne symptoms and are therefore called “manifesting carriers.” – rarediseases.org
- Boys with DMD usually begin to have problems around age 5 (girls can carry the gene that causes Duchenne but usually have only mild symptoms). – kidshealth.org
- Early signs of DMD may include delayed ability to sit, stand, or walk and difficulties learning to speak. – rarediseases.info.nih.gov
- DMD is typically inherited through the mother; however, in about 25% of cases, the disease occurs spontaneously in people who do not have a family history of DMD. – MDA.org
- In the past, most people with DMD did not live beyond their early 20s, but improvements in treatment have increased life expectancy. At present, the average life expectancy for people with DMD is 28 years. – musculardystrophynews.com
- Survival into the early 30s is becoming more common, and there are cases of men with DMD living into their 40s and 50s. – MDA.org
We invite you to learn about Tommy, a patient living with DMD, and his journey with this disease.
Orsini Specialty Pharmacy is honored to support patients living with DMD. Our dedicated DMD Care Team works with the physician’s office and insurance on a patient’s behalf to give them more time to focus on their treatment and quality of life. We are here to listen, provide counseling on treatment, including side-effect management, and assist with sourcing third-party financial assistance. In addition, Orsini is the only specialty pharmacy with access to all medications for Duchenne Muscular Dystrophy.
We are honored to play a small part in raising awareness for DMD patients, caregivers, and the providers that support them.