You know that raising a child with Duchenne muscular dystrophy (DMD) brings challenges. This genetic disorder has no cure. But you don’t dwell. You move forward and learn ways to help your child function and slow DMD’s progression. With early treatment, physical activity, and support, your child can live a longer and better-quality life.
Keeping track of your child's symptoms and abilities helps make sure they get the therapies they need as soon as possible, and it lets you and your family prepare for what's next. Your child's health care team will do regular testing to see how their condition is progressing. There are things you can watch for at home, too.
How Does DMD Progress?
Duchenne advances at a different rate in everyone who has it. Sometimes, the symptoms progress differently even in siblings who have the same gene mutation.
You may have noticed signs of DMD in your child's preschool years when they first had trouble walking, jumping, running, or climbing stairs. Usually, muscle weakness starts in the hips and pelvic area and worsens with age, moving to the arms, legs, and trunk. Doctors recommend that kids with DMD start treatment with steroid medications before their physical symptoms start getting worse, often by age 4 or 5.
By about age 10, they may need braces to walk. On average, children with DMD lose their ability to walk around age 12 and transition to a wheelchair. As your child gets older, their bones develop in an abnormal way. Combined with muscle weakness, this can lead to breathing disorders.
In the early teen years, many people with DMD get an enlarged heart (cardiomyopathy). After age 18, this condition affects nearly everyone with DMD. People in the advanced stages of DMD may also develop problems with swallowing.
How Health Care Providers Monitor DMD
Your child will need ongoing tests from health care professionals to check how the disease is progressing. They'll see a neuromuscular specialist (NMS) regularly along with standard pediatrician visits. Their health care team may also include a:
- Physical, occupational, and/or speech therapist
- Mental health professional
- Social worker
Because Duchenne affects so many parts and functions of the body, this team will monitor many different aspects of your child's health. Your child will get regular checks of their:
Muscles. Ideally, your child will see their NMS every 6 months and a physical or occupational therapist every 4 months. They'll check your child's:
- Range of motion
- Muscle function
Your child may also do timed tests of activities such as climbing steps, walking, and getting up from the floor.
Bones. Not only does DMD lead to weak bones, so can the steroids prescribed to treat it. Your child should have a dual-energy X-ray absorptiometry (DEXA) test to measure bone density every 2-3 years. Doctors also recommend lateral spine X-rays at least every year or two to check for compression fractures in the spine, which don't always hurt. And they'll need exams for scoliosis (a curved spine) at every doctor visit.
Heart. A doctor should check your child's heart when they're diagnosed with DMD, then at least once a year after that. They'll use imaging tests like a cardiac MRI, electrocardiogram (EKG) or echocardiogram to see how well the heart is functioning.
Lungs. Your child will need a breathing test, called a pulmonary function test, at least once a year. As their condition progresses, they may need tests more often. Their pulmonologist will track how well they breathe and cough, and measure oxygen levels in their blood. If the doctor suspects your child isn't breathing deeply enough while they sleep, they may order a sleep study.
Digestion and nutrition. Gastrointestinal and nutritional problems are common with DMD, including weight gain or loss. Your child's doctors will track their height and weight. A nutritionist can make sure your child's diet is healthy and help address any weight issues. Doctors will also look for signs of swallowing problems to see if a feeding tube might help your child.
Growth and puberty. Taking steroids for a long time can delay growth and interfere with the body's hormones. Your child's health care team will check their growth every 6 months and watch for signs of puberty starting at age 9. If your child hasn't started puberty by age 14, they may need to see a pediatric endocrinologist.
Mental and emotional health. People with DMD are at higher risk for learning, behavior, and emotional issues. When your child is diagnosed, and before they start school, a professional should evaluate their thinking and language skills, mood, and personality. At each appointment, their doctor should assess them for behavioral issues and check how well they're coping mentally. They'll be screened for learning disabilities if they show symptoms of them.
What Symptoms Can I Monitor at Home?
Stay in touch with your child's health care team about what is and isn’t working, from medications to exercises. Go to medical appointments with lists of questions, write down any new instructions or medications, and find out how you can reach each provider after hours. Let your child's doctors know whenever their symptoms get worse or you notice new symptoms. It may help to bring pictures or videos of symptoms you're worried about.
Some things to watch out for include:
Breathing problems. Contact the doctor if you notice your child coughing a lot. Weak lung muscles put them at higher risk of serious respiratory infections like pneumonia. Also watch out for signs of poor lung function like:
- Shortness of breath
- Headaches, especially in the morning
- Fatigue and problems staying awake
- Trouble sleeping, or waking up often during the night
Heart issues. Call your child's cardiologist if you notice any of these problems:
- Chest pain
- Belly pain
- Unusual tiredness
- Weight loss
- Trouble doing their usual activities
Nutrition and digestion issues. Make sure your child gets enough fluids and eats a healthy diet that includes calcium and vitamin D for bone health. Let your child's doctor know if they have constipation or heartburn (also called gastroesophageal reflux disease, or GERD). Also tell their medical team if they have signs of swallowing problems like:
- Drooling or dropping food from their mouth
- Taking longer than a half-hour to eat a meal
- Tiredness after meals
- Coughing, choking, or gagging while eating
Behavioral and learning issues. Watch for changes in your child’s mental and behavioral health. Let their health care team know if your child:
- Has trouble making friends or interacting with others
- Is often angry
- Resists change and seems inflexible
- Has trouble remembering things and paying attention
- Is very quiet or withdrawn
- Seems fearful, anxious, or sad
- Has trouble learning or gets bad grades
- Has problems with communication or language
When Should I Call 911?
Call 911 if you think your child may need emergency care or is having trouble:
- Staying alert or breathing after a fall or leg injury
- Keeping their steroid medications down for 24 hours due to vomiting
Make sure any doctor involved in your child's care knows about their DMD and the medications they're taking. Your child can wear a medical alert bracelet, or you can carry a DMD emergency card or app.
Photo Credit: Mayur Kakade / Getty Images
Muscular Dystrophy Association (MDA): “Duchenne Muscular Dystrophy,” “The Diagnosis and Management of Duchenne Muscular Dystrophy: A Guide for Families.”
UCLA Health: “Duchenne Muscular Dystrophy in Children.”
Parent Project Muscular Dystrophy (PPMD): “Diagnosis and Early Phase,” “Assembling a Care Team,” “Progression,” “Bone & Joint Care,” “Imperatives for Duchenne MD Care: A Guide for Providers,” “Care for the Heart,” “Growth & Puberty,” “Care for the GI System & Nutrition,” “Care for Lung Muscles,” “Learning and Behavior,” “Emergency Care.”
The Lancet Neurology: “Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.”
CDC: “Duchenne Muscular Dystrophy Care Considerations.”
Pediatrics: “Primary Care and Emergency Department Management of the Patient with Duchenne Muscular Dystrophy.”
JMIR Mhealth and Uhealth: “The Use of Virtual Reality Technologies in the Treatment of Duchenne Muscular Dystrophy: Systematic Review.”
McMaster Children's Hospital: “Duchenne muscular dystrophy (DMD).”