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Muscular Dystrophy

What is muscular dystrophy?

Muscular dystrophy (MD) is a broad term that describes a genetic (inherited) disorder of the muscles. Muscular dystrophy causes the muscles in the body to become very weak. Over time, the muscles break down and are replaced with fatty deposits.

Other health problems commonly associated with muscular dystrophy include:

  • Heart problems

  • Breathing and lung problems

  • Scoliosis— a lateral, or sideways, curvature and rotation of the back bones (vertebrae), giving the appearance that the person is leaning to one side

  • Diet, nutrition, and digestive problems

  • Emotional and mental health issues

The most common forms of muscular dystrophy are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy. The two forms are very similar, but Becker muscular dystrophy is less severe than DMD. Girls are rarely affected by either of these forms of muscular dystrophy.

What causes muscular dystrophy?

Duchenne muscular dystrophy is a genetic disease which means it is inherited.

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. 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.

Genetic illustration demonstrating X-linked inheritance
Click Image to Enlarge

What are the symptoms of muscular dystrophy?

Muscular dystrophy is usually diagnosed in children between 3 and 6 years of age. Early signs of the illness include a delay in walking, trouble rising from a sitting or lying position, and frequent falling. Weak shoulder and pelvic muscle are also early symptoms. These are the most common symptoms of muscular dystrophy:

  • Clumsy movement

  • Trouble 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

  • Trouble breathing

  • Trouble getting up from a seated position on the floor

A telltale 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 look like other conditions or medical problems. Always see your child's doctor for a diagnosis.

How is muscular dystrophy diagnosed?

The diagnosis of muscular dystrophy is made with a physical exam and certain tests. During the exam, your child's doctor takes a complete prenatal and birth history of the child and asks if other family members are known to have muscular dystrophy.

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). A test that records the electrical activity of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias), and detects heart muscle damage.

Treatment for muscular dystrophy

Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is. 

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. 

Picture of young boy, with canes, during a physical therapy session

Nonsurgical treatment options 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 (research trials may help advance treatment)

  • Nutritional counseling

  • Psychological counseling

In some cases, surgery 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

Long-term outlook for a child with muscular dystrophy

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.

The 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.

Online Medical Reviewer: Sather, Rita, RN
Online Medical Reviewer: Shelat, Amit, MD
Date Last Reviewed: 5/1/2017
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