Pediatric Muscular Dystrophy

Duchenne muscular dystrophy is a genetic disease which means it is inherited. Our genes determine our traits, such as eye color and blood type. Genes are contained in the cells of our bodies on stick-like structures called chromosomes. There are normally 46 chromosomes in each cell of our body, or 23 pairs. The first 22 pairs are shared in common between males and females, while the last pair determine gender and are called the sex chromosome pair: females have two X chromosomes, while males have one X and one Y chromosome.

Duchenne muscular dystrophy is caused by an X-linked recessive gene. "X-linked" means that the gene causing the trait or the disorder is located on the X chromosome. Genes on the X chromosome can be recessive or dominant, and their expression in females and males is not the same because the genes on the Y chromosome do not exactly pair up with the genes on the X. X-linked recessive genes are expressed in females only if there are two copies of the gene (one on each X chromosome). However, for males there only needs to be one copy of an X-linked recessive gene in order for the trait or disorder to be expressed. For example, a woman can carry a recessive gene on one of the X chromosomes unknowingly, and pass it on to a son, who will express the trait or disease.

Muscular dystrophy is usually diagnosed in children between 3 and 6 years of age. Early signs of the illness include a delay in walking, difficulty rising from a sitting or lying position, and frequent falling, with weakness typically affecting the shoulder and pelvic muscle as one of the initial symptoms. The following are the most common symptoms of muscular dystrophy. However, each child may experience symptoms differently. Symptoms may include:

• Clumsy movement
• Difficulty climbing stairs
• Frequently trips and falls
• Unable to jump or hop normally
• Tip toe walking
• Leg pain
• Facial weakness
• Inability to close eyes or whistle
• Shoulder and arm weakness

A tell-tale clinical characteristic for Duchenne muscular dystrophy (DMD) is Gowers' sign. Children with Duchenne muscular dystrophy find it very hard to get up from a sitting or lying position on the floor. They first pull up to their hands and knees. The child walks his or her hands up their legs to brace themselves as they rise to a standing position.

In addition, children with muscular dystrophy often have very large calves due to the large amounts of fatty deposits that are replacing muscle.

The symptoms of muscular dystrophy may resemble other conditions or medical problems. Always consult your child's doctor for a diagnosis.

The diagnosis of muscular dystrophy is made with a physical examination and diagnostic testing by your child's physician. During the examination, your child's doctor obtains a complete prenatal and birth history of the child and asks if other family members are known to have muscular dystrophy.

Diagnostic tests for muscular dystrophy may include:

• Blood tests. These include genetic blood tests.
• Muscle biopsy. The primary test used to confirm diagnosis. A small sample of muscle tissue is taken and examined under a microscope.
• Electromyogram (EMG). A test to check if the muscle weakness is a result of destruction of muscle tissue rather than nerve damage.
• Electrocardiogram (ECG or EKG). A test that records the electrical activity of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias), and detects heart muscle damage.

Specific treatment for muscular dystrophy will be determined by your child's doctor based on:

• Your child's age, overall health and medical history
• The extent of the condition
• The type of condition
• Your child's tolerance for specific medications, procedures or therapies
• Expectations for the course of the condition
• Your opinion or preference

To date, there is no known treatment, medicine or surgery that will cure muscular dystrophy, or stop the muscles from weakening. The goal of treatment is to prevent deformity and allow the child to function as independently as possible.

Since muscular dystrophy is a life-long condition that is not correctable, management includes focusing on preventing or minimizing deformities and maximizing the child's functional ability at home and in the community.

Management of muscular dystrophy is either nonsurgical or surgical. Nonsurgical interventions may include:

• Physical therapy
• Positioning aids used to help the child sit, lie or stand
• Braces and splints used to prevent deformity, promote support or provide protection
• Medications
• Nutritional counseling
• Psychological counseling

Surgical interventions may be considered to manage the following conditions:

• Scoliosis (a sideways curvature of the back bones) associated with muscular dystrophy
• Maintaining the child's ability to sit or stand

Muscular dystrophy is a progressive condition that needs life-long management to prevent deformity and complications. Walking and sitting often becomes more difficult as the child grows. Usually by the age of 12, the child needs a wheelchair because the leg muscles are too weak to work. Heart or lung problems often occur by the late teenage years or into the early 20s.

Your child's interdisciplinary healthcare team will work with your family to improve your child's functional outcomes and to provide support as you learn to care for your child's needs.

The Muscular Dystrophy Association can be an important resource, both financially and emotionally, for parents of children with muscular dystrophy.