Duchenne muscular dystrophy (DMD) is a genetic, progressive form of muscular dystrophy that occurs primarily in males. It is caused by genetic changes in the DMD gene and is inherited in an X-linked recessive pattern. X-linked means the gene for the condition is located on the X-chromosome. In males, one altered copy of the gene is enough to cause DMD. DMD causes progressive weakness and muscle atrophy. In early signs of the disease, DMD may cause a delayed ability to sit, stand, or walk, and can make learning to speak difficult for the patient. We invite you to learn more about Tommy, a patient living with DMD, and his journey with this disease.
To bring awareness to Duchenne muscular dystrophy, we are honored to support World Duchenne Awareness Day, happening on September 7th. World Duchenne Awareness Day is a global day aimed to raise 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 and statistics that may be helpful.
- The Duchenne gene is found on the X-chromosome; therefore, it affects mostly males. – Jett Foundation
- DMD affects approximately 1 in every 3,500 live male births. There are approximately 15,000 patients diagnosed with Duchenne alive today in the United States. – Jett Foundation
- The age of onset of DMD is typically between 3 and 5 years old.
– RareDiseases.org - DMD is a rare, progressive disease in which those diagnosed are unable to produce dystrophin, a protein essential for the repair and stability of muscle fibers. Without dystrophin, muscle cells are damaged and replaced with connective tissue. – Little Hercules Foundation
- Boys with DMD experience a steady weakening in muscle strength between the ages of 6 and 11 years. Braces may be necessary for walking, and by age 12 most boys become wheelchair-bound. – Genome.gov
- Early signs of DMD may include delayed ability to sit, stand, or walk and difficulties learning to speak. Muscle weakness is usually noticeable in early childhood. – Romito Foundation
- While there is no cure, new gene-based therapies have emerged with noted advances in using conventional gene replacement strategies, RNA-based technology, and pharmacological approaches. – Cure Duchenne
Orsini Specialty Pharmacy is honored to support patients living with DMD. Our dedicated Care Team will work with the physician’s office and insurance on a patient’s behalf so that our patients have 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.