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.
  • affects approximately 1 in 5,000 live male births.
  • 20,000 children are diagnosed with Duchenne globally each year.
  • DMD is classified as a dystrophinopathy, a muscle disease that results from thr deficiency of a protein called dystrophin.

Treatments Available for DMD:  

Emflaza – corticosteroid taken daily

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 intravenous infusion once a week

Amondys, Vyondys, Viltepso – other exon skipping medications give 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 Coordinator MDA Clinic:  Kathleen McMahon, MN, BScN, CPN, RN
For appointments call: 313-832-9609
Fax:  313-745-3012 for referrals

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