Duchenne Muscular Dystrophy

Duchenne MD begins with muscle loss in the pelvis, upper arms, and legs. The first signs and symptoms of DMD develop between ages 2 to 5 years. Symptoms include:

• Difficulty walking, such as lateness in learning how to walk (older than 18 months), having a waddling gait, or walking on the toes or balls of the feet
• Difficulty running or jumping because of weakness in leg muscles
• Frequent falls, stumbling, and difficulty climbing stairs
• Difficulty standing from a lying or sitting position
• Reduced endurance
• Enlarged calf muscles
• Mild mental retardation (in some patients)

Many children with DMD lose their ability to walk by late childhood and require wheelchairs. As muscles continue to weaken in the back and chest, most children develop curvature of the spine (scoliosis). By adolescence, DMD usually progresses to weaken the heart and respiratory muscles.

Becker Muscular Dystrophy

Becker MD begins with muscle loss in the hips, pelvis, thighs and shoulders. BMD is basically a milder form of Duchenne MD. Symptoms include:

• Physical difficulties similar to Duchenne muscular dystrophy
• Waddling gait, perhaps walking on toes or sticking out the abdomen to balance weak muscles

BMD progresses more slowly over the course of decades, and is a milder and less predictable disease. Some men with BMD need wheelchairs by age 30 years or later; others manage for many years with minor aids, such as a walking cane.

If you think your child may have MD, see your doctor as soon as possible for diagnosis and comprehensive care.

Patient History

Tell the doctor if other family members have any signs or symptoms of MD. Be sure to mention if your child has any other health problems. Also, tell the doctor at what age your child achieved growth milestones, such as learning how to walk.

Physical Examination

The doctor will want to see how your child stands up from a sitting position on the floor. Children with DMD use the Gower's maneuver to stand up. They start out on their hands and feet, planting their feet widely apart and pushing up their bottom first. Then they use their hands to push up on their knees and thighs. The doctor will also want to watch your child walk. He or she may carefully test the child's muscles and nervous system.

A child with Duchenne muscular dystrophy uses the Gower's maneuver to stand.

Laboratory Tests

The doctor may use certain laboratory tests to confirm that your child has MD.

Blood tests. The doctor checks a blood sample for high levels of the enzyme creatine kinase, which can indicate muscle damage.

Electromyography. The doctor puts small electrodes into muscle to measure electrical activity. Changes in the pattern of activity can show disease.

Muscle biopsy. The doctor removes a small piece of muscle to study in the laboratory. This can distinguish various forms of MD from other muscle diseases.

Genetic testing. Sometimes, the doctor can study a blood sample to identify an abnormal gene and diagnose MD.

Nonsurgical Treatment

The goals of nonsurgical treatment of MD include keeping the child's body flexible, upright, and mobile, and helping the child function independently for as long as possible.

The doctor may recommend various nonsurgical treatments:

• Physical therapy and bracing to prevent contractures. The doctor may prescribe daily stretching exercises to improve the child's ability to walk. Regular, moderate physical therapy may help maintain range of motion in stiff or "frozen" joints. Walking braces for the ankle-foot or the knee-ankle-foot can help support weak muscles and keep the body flexible, slowing progression of contractures.
• Medications. Sometimes a doctor may prescribe anti-inflammatory corticosteroid medications to improve muscle strength and delay progression of DMD. These medications can cause serious side effects.
• Assistive devices. Rehabilitative devices such as canes, walkers, wheelchairs, strollers, and electric wheelchairs can help maintain the child's mobility and independence. Sometimes it helps to make modifications to your home, such as widening doorways and installing wheelchair ramps. Eventually, as respiratory muscles weaken, the child may also need the assistance of a breathing device, or ventilator.

Surgical Treatment

• Surgical release of contractures. A surgeon may cut through tendons to relieve contractures (tendon release surgery). Some surgeries can help the child continue to walk.
• Spinal fusion for scoliosis. Scoliosis in a wheelchair-dependent child with MD can become so severe that it aggravates breathing problems. Having spine surgery before this happens can help with breathing function, lessen back pain, and improve sitting balance. All of these factors improve the child's quality of life. The doctor may recommend surgery when the spinal curve reaches a certain size (greater than 20°). A surgeon will perform a spinal fusion using metal rods to hold the back in a straighter position.