Muscular dystrophy is a group of genetic conditions that cause increasing muscle loss. A child with muscular dystrophy will become weaker as they lose more muscle.
There’s no cure, but our team at Children's Health provides the latest therapies to help manage your child’s symptoms and help slow the course of the disease. Children’s Health is home to the only Duchenne Muscular Dystrophy Clinic in Texas, certified by the Parent Project Muscular Dystrophy as offering best practices in care.
What is Pediatric Muscular Dystrophy?
When a child has muscular dystrophy, their body doesn’t produce the proteins they need to form healthy muscles. Muscle cells die and are replaced by fat cells. Early signs of muscular dystrophy can include a delay in walking or sitting up. A child may slowly become less able to walk, move their hands and arms, breathe easily or swallow.
Different genetic changes cause different types of muscular dystrophy. The condition can be diagnosed during infancy, childhood or later in life.
What are the different types of Pediatric Muscular Dystrophy?
Different types of muscular dystrophy progress and affect muscles in different ways:
Duchenne muscular dystrophy
This is the most common form of muscular dystrophy. 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 Duchenne.
This type of muscular dystrophy can start in infancy, 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.
Fascioscapulohumeral 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.
What are the signs and symptoms of Muscular Dystrophy in Children?
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's health history. They may do tests to rule out other conditions. If they suspect 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 disease.
Next, doctors will do a genetic test from a blood sample 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 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?
While there currently is no cure for muscular dystrophy, our care team can work with your child to improve 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 a disease-modifying drug (DMD) 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 with equipment, school recommendations, and stretching exercises
- 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. For example, a child on steroids may need a special diet with low carbs, salt and fats.
- 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), gastroenterologists to help their digestive system work as well as possible and physical therapists to develop exercise programs.
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 gene transfer therapy to replace the defective ones so that cells throughout the body could produce the missing proteins needed for healthy muscles.