Duchenne muscular dystrophy: what families need to know

About 1 in every 3,500 to 5,000 boys is born with Duchenne muscular dystrophy (DMD). If your child has unexplained muscle weakness, frequent falls, or delayed walking, that might be why. DMD is a genetic disorder that wears down muscles over time because the body can’t make dystrophin, a protein muscles need to stay strong.

How doctors diagnose DMD

Doctors usually start with a simple blood test for creatine kinase (CK). High CK levels point to muscle damage. Next step is genetic testing to look for changes in the dystrophin gene. Genetic testing is the main tool now—less often a muscle biopsy is needed. If DMD is confirmed, ask for genetic counseling so the family understands inheritance, carrier testing, and future pregnancy options.

Treatments that help now

There’s no one-time cure yet, but treatments slow the decline and improve quality of life. Corticosteroids (usually prednisone or deflazacort) are standard. They often help kids keep walking longer and reduce respiratory decline. Steroids have side effects—weight gain, mood changes, bone thinning—so doctors monitor growth, bone density, and blood pressure.

Targeted drugs exist for certain mutations. Eteplirsen, golodirsen and casimersen are exon-skipping drugs approved for specific dystrophin gene errors. These only work if the child’s mutation matches the drug’s target. New gene therapy and micro-dystrophin trials are active—ask your neuromuscular specialist if a trial fits your child.

Beyond drugs, regular heart and lung checks matter. DMD commonly affects the heart (cardiomyopathy) and breathing muscles. Pulmonology and cardiology should be part of care from an early age. Physical therapy, stretching, night-time breathing support, and timely use of assisted cough or ventilatory support make a big difference in daily life.

Simple practical tips: keep up with vaccinations, watch for swallowing problems, adapt the home to reduce fall risk, and plan for school needs early. A multi-disciplinary team—neurologist, pulmonologist, cardiologist, physical therapist, and social worker—gives the best long-term results.

Where to find help: check Patient Registries and trial listings on ClinicalTrials.gov, and groups like the Muscular Dystrophy Association, TREAT-NMD, and Parent Project Muscular Dystrophy. These groups list specialists, support programs, and financial help resources.

Money concerns are real. Ask your child’s specialist about manufacturer assistance programs for exon-skipping drugs, and about foundations that help cover travel and equipment. If you look for lower-cost medication options online, only use verified pharmacies and talk to your doctor first—some drugs require special storage or monitoring.

If you suspect DMD, act now. Early diagnosis and the right team give your child more mobility, better heart and lung health, and access to new treatments and trials. Ask questions, get a genetic test, and connect with patient groups for practical support.