Standing, walking, running, and eating are activities of daily living that are easy to take for granted. But children with Duchenne muscular dystrophy, or DMD, often find these basic movements difficult or impossible to do on their own. This is because DMD is a disease that over time makes muscles weaker and less flexible.
Caring for a child with DMD can be overwhelming and confusing, with anxieties and questions about causes, symptoms, and treatment for this disease. We’re happy to share this informative guide to help any parent or caregiver take charge of their child and family’s well-being.
What causes Duchenne muscular dystrophy?
DMD is a form of muscular dystrophy caused by genetic abnormalities that affect how the body builds and maintains muscles. Specifically, this condition impacts the X chromosome and causes a mutation that leads to the disorder. While the disease is more common in males, females can also be affected.
The genetic mutation is inherited from the mother, but because a recessive inheritance causes DMD, the disease does not have to develop in the parent to be passed on. This recessive gene shows no symptoms, and there is generally no way to indicate if children will have the disorder without extensive testing.
Duchenne Muscular Dystrophy Symptoms
Most symptoms of DMD don’t develop until children are three to six years old. The first symptoms usually impact the larger muscles in the hips, pelvic area, thighs, and shoulders before progressing to the arms and legs. Children who are already walking are likely to fall more often, have trouble climbing stairs, or struggle to get up from the floor. As the disease progresses, children may begin to waddle or walk on their toes.
Other symptoms of Duchenne muscular dystrophy include:
Difficulty rising from a lying or sitting position
Trouble running and jumping
Large calf muscles
Muscle pain and stiffness
Problems learning or memorizing
Shortness of breath
While some children have learning and behavior problems, DMD doesn’t generally affect intelligence, and children can usually expect to meet standards for their age group.
How to Diagnose Duchenne Muscular Dystrophy
You should talk to your doctor if your child shows signs of DMD. The pediatrician will review medical history, ask questions, and perform a physical exam to rule out other conditions that cause muscle weakness. Additional tests used to confirm DMD include:
Lung monitoring tests
Duchenne Muscular Dystrophy Treatment
Prescription medicines and other therapies can relieve the symptoms of DMD, protect the muscles, and keep the heart and lungs healthy. Some medications approved by the Food and Drug Administration (FDA) include eteplirsen (Exondys 51) and an oral corticosteroid, deflazacort (Emflaza).
Eteplirsen is a disease-modifying drug for DMD that is injected. It’s an exon-skipping drug that increases dystrophin production and targets the genetic code exon 51. Other drugs could impact how it performs, so you should talk to your doctor before adding additional medications to your child’s daily routine. Side effects may include balance problems and vomiting.
Deflazacort is the first FDA-approved corticosteroid and has been found to help patients retain muscle strength and maintain the ability to walk. This solution is commonly used for children five years and older. Common side effects include puffiness, increased appetite, and weight gain.
While there are other treatments that aren’t FDA-approved, you should always talk to your doctor before joining any clinical trials or trying any new medications. Your physician can help you monitor your progress and work through your options.
Duchenne Muscular Dystrophy Life Expectancy
While there is no cure for DMD, advances in technology and medicine have extended the lifespan of those living with the disease. As a result, the FDA has approved treatments for DMD, and clinical trials are underway for some advanced strategies, including gene therapy, exon skipping, stop codon read-through, and gene repair.
People living with DMD can grow into adulthood. It’s not uncommon for people with DMD to live into their early 30s, and there are several cases of patients living well into their 40s and 50s.
Caring for a Child With Duchenne Muscular Dystrophy
While the disease has a significant impact on your child’s ability to do everyday activities, there are several things you can do at home to improve their quality of life. These include:
Learn about the full range of motion exercises. A physical therapist can teach you exercises to assist your child with joint flexibility and straightening their back.
Get a sleep mask. Duchenne muscular dystrophy can also affect the eyelids, making it difficult for your child to fully close their eyes while sleeping and getting a good night’s rest.
Massage your child’s joints. This can help ease joint pain when heat therapy and over-the-counter medications aren’t doing the trick. Ask the pediatrician about specific massages for joints and muscles.
Look into mobility support devices. Having leg braces, back supports, or a walker will help give your child a sense of independence while doing simple tasks.
Install home adjustments. Since children will have difficulties moving around the house, installing ramps, wider doorways, and stairlifts will help them move from room to room easier.
Arrange for special education. If your child is dealing with speech delays, dyslexia, or behavioral problems, they may need professional help to provide training and assistance.
Home Care for Children With Duchenne Muscular Dystrophy
Children with Duchenne muscular dystrophy require around-the-clock care. Depending on the severity of the condition, they may also need someone to monitor their breathing. School-age children typically require assistance with schoolwork. Additional needs can include physical therapy and administering medications.
For families with multiple children and busy schedules, meeting the level of care that children with DMD require can be demanding. Families and caregivers feeling stressed, overwhelmed, or isolated can very often benefit from the support and assistance of pediatric home health services.
Contact Care Options for Kids for Home Health Care
It can be hard to balance your time between work, home, and caring for a child. That’s why our team of professionals at Care Options for Kids is here to help. We have been enforcing precautionary measures and following the Centers For Disease Control (CDC) guidelines for COVID-19 to ensure the safety and health of our clients and employees.
Our home health care services offer support one-on-one in the comfort of your home. We refer loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free Pediatric Consultation. Together we can determine the best plan of action to keep your loved ones happy and healthy.
If you or a loved one are considering Pediatric Home Health Care Services, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.