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Conditions

Muscular Dystrophy

Duchenne Muscular Dystrophy

Description

Muscular Dystrophy (MD) is a disease where muscles become weak over time. Often MD impacts the muscles that move the limbs and trunk.  It may also affect involuntary muscles like the heart. MD is inherited, and gets worse over time.

There are more than 30 types of MD. Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) are the most common types that affect children. DMD and BMD almost always occur in boys. The disease is passed from an unaffected mother to her son (x-linked recessive inheritance pattern).

DMD and BMD both cause progressive weakness and worsening coordination.
 

Symptoms

Duchenne Muscular Dystrophy
DMD typically begins affecting muscles in the pelvis, upper arms, and thighs. Symptoms start around 2 to 5 years of age. These most common symptoms are large calves and a waddling gate.  Other symptoms include:
  • Late or abnormal walking
  • Falling or stumbling
  • Difficulty running or jumping
  • Problems getting up to stand from the floor
  • Getting tired quickly when walking or playing
  • Large calf muscles
Becker Muscular Dystrophy
This is essentially a milder form of DMD. Kids present later in age with milder symptoms.
 

Diagnosis

Your child’s doctor will perform a complete medical history and carefully evaluate your child. This includes watching your child walk. The doctor may also order several tests, including:
  • Laboratory studies
  • Genetic testing
  • Electromyography (using electrodes to measure muscle activity)
  • Biopsy of the muscle
  • Pulmonary Function Testing (to see how well the lungs work)
  • X-rays (to look for scoliosis or to look at joints that are tight).


Treatment

Unfortunately, there is no cure for MD. There are many interventions to reduce disability and improve quality of life for children with MD.

Physical therapy can help to keep joints supple and improve muscle strength. Braces may also be used to support the legs when walking. Sometimes anti-inflammatory medications may be used, including steroids. These medications can help improve function and strength but do have side effects.  Many patients benefit from the use of canes, walkers, wheelchairs, or home modifications such as ramps and widening doorways.

Some patients may benefit from surgery. This can include releasing tight muscles or tendons. Some patients with MD develop scoliosis, or a curvature in the spine. This may need to be treated surgically to improve sitting posture. The spine is fused in a good position with the assistance of internal rods and screws.
 

Prognosis

Children with DMD usually lose the ability to walk and require wheelchairs in late childhood or adolescence. Many DMD patients develop scoliosis. Ultimately, DMD will weaken the muscles of the respiratory system and the heart.

BMD progresses much more slowly. These patients may not need a wheelchair until age 30 or later.

If you are concerned that your child may have MD, see your doctor for an evaluation.
 

Resources

<div style="text-align:justify;">
<h3><strong>Q: What is Muscular Dystrophy?</strong></h3>
Muscular dystrophy (MD) is a set of disorders that cause muscles to weaken over time. MD mainly affects skeletal muscles, which move the limbs and trunk.&nbsp; It may also affect involuntary muscles like the heart. MD gets worse over time.

<div>&nbsp;</div>

<h3><strong>Q: What are the main types of MD?</strong></h3>

<div>There are more than 30 types of MD. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most common types in children.<br />
&nbsp;</div>

<h3><strong>Q: Who gets MD?</strong></h3>

<div>DMD and BMD occur almost exclusively in boys.<br />
&nbsp;</div>

<h3><strong>Q: How do you get MD?</strong></h3>

<div>DMD and BMD are inherited, usually passed down from an unaffected mother to a son.<br />
&nbsp;</div>

<h3><strong>Q: What are the effects of MD?</strong></h3>

<div>DMD and BMD both cause increasing muscle weakness and worsening coordination.&nbsp; Children with DMD usually lose the ability to walk and require wheelchairs late childhood or teenage years. Many DMD patients develop a curvature of the spine called scoliosis. Ultimately, DMD goes on to weaken the muscles of the heart and around the lung. BMD is a milder form; patients with this form may walk independently into their 30s or beyond.<br />
&nbsp;</div>

<h3><strong>Q: How is it diagnosed?</strong></h3>

<div>The first step is a thorough history and physical exam. After that, some testing may be needed.&nbsp; These may include blood work, genetic testing, muscle biopsy, DEXA scan (for bone mineral density) or electromyography (using electrodes to measure muscle activity.&nbsp; X-rays of the back are sometimes needed to look for scoliosis (a curvature of the spine).<br />
&nbsp;</div>

<h3><strong>Q: Is there a cure?</strong></h3>

<div>Unfortunately, there is no cure. However, there are different treatments that can improve quality of life. These include physical therapy, bracing, and medications such as steroids.<br />
Many patients benefit from the use of devices such as canes, walkers, wheelchairs, or ramps in the home.<br />
&nbsp;</div>

<h3><strong>Q: Will my child with MD need surgery?</strong></h3>

<div>Some patients with MD will benefit from surgery to release tightened or contracted muscles.&nbsp; If scoliosis develops, surgery to straighten the spine may improve quality of life.<br />
&nbsp;</div>

<h3><strong>Q: What is the prognosis?</strong></h3>

<div>Patients with DMD have a decreased lifespan. &nbsp;In comparison, BMD has a later onset, slower progression, and a longer life expectancy.</div>
</div>