Duchenne muscular dystrophy: what it is and what you can do today

Duchenne muscular dystrophy (DMD) is a genetic condition that gradually weakens muscles. It usually shows up in boys in early childhood and, if untreated, shortens life span because it affects heart and breathing muscles. The good news: treatments now slow decline and improve quality of life, and newer genetic drugs target the root cause in some patients.

Signs and diagnosis

Look for these clear early signs: delayed walking, frequent falls, trouble climbing stairs, big calves from muscle replaced by fat (pseudohypertrophy), and waddling gait. Doctors check a blood test for very high creatine kinase (CK) and follow with genetic testing to confirm a DMD-causing mutation in the dystrophin gene. If a mutation is found, ask for genetic counseling—carrier testing for mothers and family planning options matter.

Treatment and everyday care

There’s no single cure for all boys with DMD, but treatment combines medicines, therapy, and monitoring. Corticosteroids (usually prednisone or deflazacort) are the first-line drugs: they slow muscle loss and help kids stay walking longer. Side effects like weight gain, behavior changes, and bone thinning are common, so doctors watch growth and bone health closely.

For certain mutations, targeted genetic medicines exist. Exon-skipping drugs—like eteplirsen (Exondys 51), golodirsen (Vyondys 53), and viltolarsen (Viltepso)—are approved for people with specific exon targets and aim to restore a working form of dystrophin. Gene therapy (for example, delandistrogene moxeparvovec, marketed as Elevidys) has also gained approval for specific patients and tries to deliver a functional dystrophin gene. These treatments need specialist evaluation and confirmatory genetic tests to see if a person is eligible.

Beyond drugs: heart care is vital. DMD often causes cardiomyopathy, so regular checks with an echo and medications like ACE inhibitors or beta blockers may be started early. Breathing muscles weaken over time; pulmonary teams may add nighttime ventilation or cough-assist devices when needed. Physical therapy, stretching, and orthotics help keep joints flexible and delay contractures. If scoliosis becomes severe, spinal surgery can improve breathing and comfort.

Clinical trials move fast in DMD. If your child might qualify, ask your neuromuscular clinic about current trials—some bring access to cutting-edge options. Also, discuss vaccines, bone health (calcium/vitamin D), and nutrition to reduce complications from long-term steroid use.

Practical next steps: get genetic confirmation, connect with a multidisciplinary DMD center, and meet a genetic counselor. Keep a simple record of heart and lung tests, medications, and mobility milestones to share with specialists. That makes appointments and treatment decisions easier.

If you want, I can help draft questions for your doctor, list reputable DMD centers, or explain how exon-skipping eligibility is determined. Which would help you most right now?