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Duchenne Muscular Dystrophy (DMD)

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 developmental delay (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, children develop curvature of the spine (scoliosis). By adolescence, DMD usually progresses to weaken the heart and respiratory muscles.

Becker Muscular Dystrophy (BMD)

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 any form of MD, see your doctor as soon as possible for diagnosis and comprehensive care.

Patient History

Your doctor will discuss your child's general health and past illnesses. Be sure to provide your child's complete medical history, including any other health problems. Your doctor will also ask you to describe your child's symptoms. During the appointment, tell your doctor if other family members have any signs or symptoms of MD. Also, be prepared to discuss at what age your child achieved growth milestones, such as learning how to walk.

Physical Examination

Your doctor will want to see how your child stands up from a sitting position on the floor. Because of weak leg muscles, children with DMD stand up in a unique way that has been termed the Gower's maneuver. 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.

Your doctor will also watch your child walk. He or she may carefully test your child's muscles and nervous system.

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

Reproduced from Sussman MD: Duchenne muscular dystrophy. J Am Acad Orthop Surg 2002; 2:138-151.

Laboratory Tests

Your doctor may use certain laboratory tests to confirm that your child has MD, or to monitor for changes caused by the disease

• Blood tests. Your doctor checks a blood sample for high levels of the enzyme creatine kinase, which can indicate muscle damage.
• Electromyography. Your doctor puts small electrodes into muscle to measure electrical activity. Changes in the pattern of activity can show disease.
• Muscle biopsy. Your 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, your doctor can study a blood sample to identify an abnormal gene and diagnose MD.
• Bone mineral density. The bones of children can become weak over time, especially for children in wheelchairs. Your doctor might test bone density to determine if treatment is needed.
• Pulmonary function test. Your doctor may also monitor for changes in respiratory (breathing) function over time with a special breathing test.

Nonsurgical Treatment

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

Your doctor may recommend various nonsurgical treatments:

• Physical therapy and bracing to prevent contractures. Your doctor may prescribe daily stretching exercises to improve your child's ability to walk. Regular, moderate physical therapy may help maintain range of motion in stiff joints (contractures). 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.

A foot-ankle orthosis (AFO) can provide support for the ankle and stabilize the foot when walking.

Reproduced from Sussman MD: The orthopaedic management of cerebral palsy. Orthopaedic Knowledge Online Journal 2009. Accessed December 2013.

• Medications.  In recent years, the use of corticosteroids in the treatment of MD has been shown to be very beneficial — often extending the child’s ability to walk, as well as delaying, or avoiding, the onset of scoliosis.  Although corticosteroids have been proven effective in slowing muscle degeneration, these medications have side effects, and their use should be discussed thoroughly with your pediatric neurologist.
• Assistive devices. Rehabilitative devices such as canes, walkers, wheelchairs, strollers, and power wheelchairs can help maintain your child's mobility and independence.  Sometimes it helps to make modifications to your home, such as widening doorways and installing wheelchair ramps.

Surgical Treatment

Your doctor may recommend surgical procedures to help maintain your child's functional skills and improve quality of life.

• Surgical release of contractures. If contractures are severe, your doctor may recommend tendon release surgery. In this procedure, your surgeon lengthens the tendon to relieve the muscle tension. The tendon then heals at the longer length. Some surgeries can help the child continue to walk.
• Spinal fusion for scoliosis. The scoliosis curve in a wheelchair-dependent child with MD can become so severe that it further aggravates an already-present breathing problem. 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.
  During a spinal fusion procedure, the curved portion of the spine is put in a straighter position and "fused" together using bone graft. Metal rods are typically used to hold the spine in place while the bone graft fuses with the existing spinal bones.

(Left) This x-ray shows a large spinal curve. (Right) After spinal fusion, the spine is stabilized by two rods and several screws.

Courtesy Texas Scottish Rite Hospital for Children