Definition

Duchenne muscular dystrophy (DMD) is a genetic disease. It causes muscle weakness that gets worse over time.

Causes

DMD is caused by a faulty gene. This makes it hard for the body to make a protein called dystrophin. This protein is needed to keep muscles healthy.

Risk Factors

DMD is more common in male children. A family history of DMD raises the risk of having the disease.

Symptoms

Problems may be:

• Child is late in learning to walk
• Larger than normal calf muscles
• Frequent falls
• Clumsy walking
• Problems climbing stairs
• Problems running
• Walking on toes or balls of feet
• Problems with balance
• Walking with shoulders back and belly out
• Problems keeping up with friends when playing
• Learning disabilities

Contracture of the Hand © Nucleus Medical Media, Inc.

Diagnosis

You will be asked about your child’s symptoms and health history. A physical exam will be done. You will be asked if there is any family history of muscle or nerve problems. The exam will focus on your child’s muscles. A doctor who treats these problems may be needed.

DMD may be suspected based on symptoms and family history. It can be confirmed with:

• Muscle biopsy
• Blood tests—for genetic testing

Treatment

The goal of treatment is to manage symptoms as the disease gets worse. Options are:

• Medicine to improve muscle strength and slow muscle weakening
• Vitamin D and calcium supplements to strengthen bones
• Physical therapy to help with muscle strength and range of motion
• Assistive devices, such as braces, a walker, or wheelchair to support weak muscles
• A ventilator or a hole in the throat and a trach tube to help with breathing

Some patients may need surgery. It may help to release tight muscles or ease curves in the back.

Prevention

DMD is caused by a faulty gene. It cannot be prevented.