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.

The following includes the most common symptoms in people with Duchenne muscular dystrophy. These features may be different from person to person, and this list does not include every potential symptom of DMD: 

DMD symptoms may include:

• Delayed motor development
• Enlarged calf muscles
• Muscle weakness that gets worse over time
• Toe walking or waddling gait
• Using hands to get up off the floor 
• Progressive enlargement of the heart

While there is no known cure for DMD, there are pharmaceutical treatments that can help control symptoms and allow patients to now live into young adulthood.

DMD treatments include:

• EMFLAZA® (deflazacort)
• EXONDYS 51 (eteplirsen)
• VYONDYS 53 (golodirsen)
• VILTEPSO® (viltolarsen)

These types of prescriptions are available through specialty pharmacies that provide dedicated patient care and support. The team at Orsini Specialty Pharmacy is here to listen, provide counseling on treatment, help with side-effect management, and assist with sourcing third-party financial assistance. Also, Orsini is the only specialty pharmacy with access to all medications for Duchenne Muscular Dystrophy. As part of the patient’s treatment, Orsini provides the following:

Dedicated DMD Care Team: Patients will have access to a primary pharmacy contact, clinical education, and scheduled refill calls. In addition, we provide patients and prescribers with 24x7 access to a pharmacist.

In-Home Patient and Family-Centric Care: Orsini Specialty Pharmacy utilizes a nationwide nursing network, enabling patients and their families to receive care at home. With the ability to individually match our nurses with the skill and care level required by each patient, we create a unique tailored high touch opportunity to optimize their care plans and clinical outcomes.

Shipping & Coordination of Care: Patients receive free priority overnight delivery of medications and necessary medical supplies. Also, Orsini manages care coordination between prescribers, sites of care, nurses, and patients.

Financial Assistance: Orsini identifies and assists patients looking to enroll in manufacturer co-pay and foundation support programs.

If you are a prescriber, click here to access DMD enrollment forms. In addition, you can always connect with your Orsini rep to schedule a call and answer any questions. If you are a patient, click here to start your patient enrollment form.

Clinical Information Source: NIH.gov