Duchenne Muscular Dystrophy
What is Duchenne Muscular Dystrophy?
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. DMD is one of four conditions known as dystrophinopathies.
Facts About DMD
Duchenne muscular dystrophy (DMD)is the most common form of muscular dystrophy. It is a genetic disorder characterized by progressive weakness and degeneration of the skeletal muscles that control movement affecting approximately 1 in 5,000 live male births. Approximately 20,000 children are diagnosed with Duchenne globally each year. DMD is classified as a dystrophinopathy, a muscle disease that results from the deficiency of a protein called dystrophin.
Treatments Available for DMD:
Deflazacort – FDA- approved corticosteroid taken daily for boys with DMD age ≥2 years
Exondys 51 – used to treat Duchenne in patients who have a confirmed mutation in the dystrophin gene that can be treated by skipping exon 51 given as intravenous infusion once a week.
Amondys 45, Vyondys 53, Viltepso – other FDA-approved exon skipping medications given intravenously once weekly
Muscular Dystrophy Clinic at CHM
- Multidisciplinary Clinic for neuromuscular problems
- Specialist Services include: Neurology, Physical Medicine and Rehabilitation, Pulmonary, Dietician, physical and occupational therapies, community equipment and orthotic services with referrals to endocrinology, cardiology, orthopedics and more
Director of MDA Clinic: Dr. Michelle Figueroa
Nurse Practitioner: Ashley Thibodeau, NP
Nurse Coordinator MDA Clinic: Kathleen McMahon, MN, BScN, CPN, RN
For appointments call: 313-832-9609
Fax: 313-745-3012 for referrals
