Pediatric Muscular Dystrophy (MD)

What are the different types of Pediatric Muscular Dystrophy?

Different types of muscular dystrophy in children progress and affect muscles in different ways:

Duchenne muscular dystrophy (DMD)

DMD is the most common form of muscular dystrophy in children. It usually starts between ages 2 and 5, and it typically affects boys. Children’s Health has the only certified Duchenne Muscular Dystrophy Clinic in Texas.

Becker muscular dystrophy

This form usually starts when a child is a teenager, and it develops more slowly than DMD.

Myotonic dystrophy

This type of muscular dystrophy can start in childhood or early adulthood. Myotonia means that muscles have a hard time relaxing after they have contracted.

Limb-Girdle muscular dystrophy

This form progresses slowly. Usually, it first affects muscles in the shoulders, back and hips.

Facioscapulohumeral muscular dystrophy

This type usually appears in the later teen years and tends to progress slowly. It usually affects the muscles of the face, back and upper arms.

Congenital Myotonic muscular dystrophy

This muscular dystrophy appears in early adulthood. It usually affects the muscles of the face and neck first.

What are the signs and symptoms of Pediatric Muscular Dystrophy (MD)?

Symptoms vary depending on the type of muscular dystrophy, but a child may experience:

• Trouble rising from a sitting or lying position

• Falling frequently

• Difficulty running and jumping

• Difficulty climbing stairs

• Muscle weakness, pain or stiffness

• Waddling or unsteady walking

• Difficulty climbing stairs

• Trouble breathing

• Difficulty raising the front of the foot (foot drop)

• Walking on the toes or balls of the feet

• Large calf muscles

• Delayed growth

• Learning disabilities

• A curved spine (scoliosis)

How is Pediatric Muscular Dystrophy diagnosed?

At Children’s Health, your doctor will do a physical exam and ask about any problems your child is having. They may also ask about your family health history and will do tests to rule out other conditions. If the doctor suspects muscular dystrophy, they will take a blood sample and test for high levels of an enzyme called creatine kinase, which is a sign of muscular dystrophy.

Next, doctors will take a blood sample and do a genetic test (called a genetic panel) to try to identify the specific type of muscular dystrophy. Your doctor also may do a muscle biopsy, which means taking a small sample of your child’s muscle tissue and looking at it under a microscope.

What causes children to develop Muscular Dystrophy?

Certain genes help make the proteins your body needs to build healthy muscles. Muscular dystrophy happens when a change (mutation) in those genes causes them to not work properly. Each type of muscular dystrophy is caused by a mutation to a specific gene. These genetic changes usually are inherited (passed down from parent to child), but sometimes they happen on their own.

How is Pediatric Muscular Dystrophy treated?

Although there currently is no cure for muscular dystrophy in children, our care team will work with your child to improve and strengthen how their muscles and joints work, and to slow the muscle loss. This care can help extend the time that they can stay active and independent.

Muscular dystrophy usually gets worse over time, and it can affect different organs. As your child passes through different stages, they may need different kinds of treatment. Our care team will closely monitor your child to ensure that they get the care they need at every stage. 

We may prescribe steroids for your child, to help reduce the inflammation that can come with muscle loss and to slow down the progression of the condition. There are also several approved medications that are given for specific types of muscular dystrophy.

Your child may receive care from different specialists, depending on their needs. This includes:

• Occupational and physical therapists, who help stretch your child’s joints and muscles and keep them mobile.

• Cardiologists and pulmonologists, who help keep your child’s heart and lung muscles strong.

• Nutritionists, to make sure they are getting the nutrients they need and to help keep their blood-sugar levels steady.

• Genetic counselors, who might identify a gene causing your child’s muscular dystrophy. This can help predict how the disease will progress. It can also help doctors and families plan for preventive care.

• Other specialists, that will depend on which parts of the body are affected, including endocrinologists for their hormones (if they are growing slowly, for example) and gastroenterologists to help their digestive system work as well as possible.

Researchers at Children’s Health and other sites are working together to develop new ways to treat muscular dystrophy, including pursuing genetic therapies that would treat its cause. Some research focuses on creating artificial genes to replace the defective ones so that cells throughout the body could produce the missing proteins needed for healthy muscles.