Muscular Dystrophy

Muscular dystrophy is a genetic condition and a neuromuscular disorder that weakens the body’s muscles over time. Missing or flawed genetic information means the body does not make the proteins it needs to build and maintain healthy muscles.

Fatty tissue replaces the muscles as they break down. Depending on the type of muscular dystrophy, the damaged muscles may mean a child will lose the ability to perform certain functions, such as walking, sitting upright, breathing easily, using the hands or moving the arms and legs. These symptoms can lead to secondary health problems, including weakened heart and lung function.

Signs of muscular dystrophy can appear in infancy or in the late teen years. The types of muscular dystrophy that affect children are:

Duchenne muscular dystrophy. This is the most common and most severe form of childhood muscular dystrophy. It only occurs in boys, usually by age 5.
Becker muscular dystrophy. This type of muscular dystrophy is similar to Duchenne muscular dystrophy, but it progresses more slowly. Becker muscular dystrophy also only appears in boys, but it occurs less often than Duchenne muscular dystrophy. Symptoms appear in the teen or adult years.
Congenital muscular dystrophy. Muscle weakness is present at birth with this form of muscular dystrophy. Babies often have breathing and swallowing problems.
Limb-girdle muscular dystrophy. Boys and girls can be affected by limb-girdle muscular dystrophy, which refers to weak muscles in the pelvis, shoulders and back. Symptoms usually appear between the ages of 8 and 12. The condition progresses slowly.
Facioscapulohumeral muscular dystrophy. This form of muscular dystrophy affects boys and girls. Symptoms appear in the teen years. Muscle weakness begins in the facial muscles, making it hard to close the eyes or puff the cheeks. Muscle weakness then moves to the back and shoulders.
Emery-Dreifuss muscular dystrophy. This rare form of muscular dystrophy affects children and teens and first appears around age 10. It affects the muscles of the shoulders, calves and heart.

Riley Children’s is recognized as a Certified Duchenne Care Center (CDCC) providing patients impacted by Duchenne and Becker muscular dystrophies advanced treatment and compassionate care through a multidisciplinary team of experts. The center serves patients from throughout Indiana and the surrounding region.

Early signs of muscular dystrophy include frequent falling, a delay in learning to walk and difficulty getting up from a sitting or lying down position. Common muscular dystrophy symptoms include:

Walking on the tips of the toes
Leg pain
Clumsy movements
Falling and tripping
Shoulder and arm weakness
Pelvic weakness
Unable to hop or jump normally
Difficulty climbing stairs
Facial weakness
Unable to close the eyes tightly

Diagnosis of Muscular Dystrophy

Doctors at Riley at IU Health perform the following exams and tests to diagnose muscular dystrophy:

Clinical exam. The doctor will examine your child’s body and discuss his or her personal and family medical history and progression of symptoms.
Blood tests. These tests check for chemicals and proteins in the blood that indicate muscular dystrophy, including serum creatine kinase (an enzyme released into the blood when muscles break down).
Pediatric genetic counseling. Genetic blood tests are also performed to check your child’s DNA for any gene changes. If genetic blood tests show changes or abnormalities in your child’s genes and chromosomes that cause muscular dystrophy, a genetic counselor will meet with you to explain what the change means and how it will affect your child.
Electromyography (EMG). This test records the electrical activity in the skeletal muscles and looks for abnormalities in nerve-to-muscle signals.
Electrocardiogram (ECG or EKG). This test monitors the electrical activity of the heart muscles and checks for any damage to the heart muscles.
Muscle biopsy. The doctor takes a small sample of muscle tissue to examine under a microscope. The muscle cells of a child with muscular dystrophy look different from normal muscle cells and may have low levels of dystrophin (a protein that gives muscles their shape).

Treatments

Treatments for muscular dystrophy focus on maximizing your child’s ability to function at home, at school and in the community and avoiding deformities caused by muscle weakness. Treatments include:

Physical and occupational therapy. Therapists will work with your child to improve muscle strength and function. Specific therapies depend on your child’s condition. Activities may include using positioning aids to help your child stand, sit or lie down.
Medical monitoring. Muscular dystrophy can lead to other conditions such as scoliosis, heart weakness, trouble breathing and difficulty swallowing. Your child’s doctor will work with a team of pediatric specialists to monitor your child frequently, checking for any signs of these secondary conditions.
Steroid treatments. Your child’s doctor may prescribe prednisone or other steroids to slow down muscle deterioration in some cases of muscular dystrophy.
Physical medicine and rehabilitation. Your child’s movements and even breathing may improve by using certain types of medical equipment such as braces and splints, which provide support and protection and can help prevent deformities. The doctor and other specialists, such as physiatrists or orthopedists, will talk with you about the best options for your child.
Nutritional counseling. A dietitian works with you and your child to make sure he or she receives the right nutrition for optimal health.
Psychological counseling. Some children may benefit from talking with a psychologist about living with a lifelong condition. Such counseling can address feelings of anxiety and depression.
Clinical trials. Your child may be a candidate for a clinical trial. His or her doctor will discuss the different options and benefits of taking part in a study with you.
Surgery. Surgery may be needed in some cases. Children with muscular dystrophy most often receive surgery to correct curvature of the spine (scoliosis) and maintain the ability to sit or stand.

When your child comes to Riley at IU Health, he or she will receive access to advanced muscular dystrophy care and treatments through our pediatric muscular dystrophy and mitochondrial disease programs sponsored by the Muscular Dystrophy Association (MDA).

A team of neurologists and other pediatric specialists—including experts in genetics, pulmonology, heart care, physical and occupational therapy, physical medicine and rehabilitation, orthopedics and nutrition—will care for your child and educate you about how to provide the best support at home.

Key Points to Remember

Muscular dystrophy is a genetic condition and a neuromuscular disorder that weakens the body’s muscles over time.
There are many types of muscular dystrophy. Duchenne muscular dystrophy is the most common and most severe form of childhood muscular dystrophy.
Depending on the type of muscular dystrophy, the damaged muscles may mean a child will lose the ability to perform certain functions, such as walking, sitting upright, breathing easily, using the hands or moving the arms and legs.
Treatment options include physical and occupational therapy, steroid treatments, physical medicine and rehabilitation, nutritional counseling, psychological counseling, clinical trials and surgery.

Support Services & Resources

View these links to discover support groups and resources for muscular dystrophies.

Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

ClinicalTrials.gov

This website from the National Institutes of Health provides information about clinical trials for muscular dystrophy. Talk to your child’s doctor about participating in specific studies.

Muscular Dystrophy Association (MDA)

MDA provides families with information and resources to manage life with muscular dystrophy.