Muscular Dystrophy

Muscular dystrophy (MD) is a disorder that slowly weakens muscles. Over time, a child’s muscles break down. They are replaced with fatty tissue. MD can make movements such as walking and standing up hard to do. It may even cause deformities in the joints.

MD is a genetic disorder. That means it is inherited. Children with a family history of the condition are more likely to have it.

MD is divided into 9 types. Some types don’t develop until a child becomes an adult. Others cause symptoms early in life. Children are often diagnosed with the disorder between 3 and 6 years old. The most common types to affect children are called Duchenne muscular dystrophy and Becker muscular dystrophy.

Symptoms of muscular dystrophy

Children with MD often have movement problems when they are young. They may start to walk later than normal. They may have trouble getting up from a sitting or lying position. Weakness in the shoulders and pelvic muscles is an early symptom.

Children may also have these other common symptoms of the disorder:

  • Clumsiness

  • Problems climbing stairs

  • Trouble jumping or hopping

  • Frequent tripping or falling

  • Walking on their toes

  • Leg pain

  • Weakness in the face, shoulder, and arms

  • Inability to open or close the eyes

  • Large calves from fat buildup

  • Learning disability

As MD progresses, a child may have heart or lung problems. They may also have scoliosis. Scoliosis is a condition that causes the spine to curve. A child with scoliosis may look like they are leaning to one side.

Diagnosing muscular dystrophy

MD may look like other health problems. To diagnose it, your child’s healthcare provider first does a physical exam. They may also ask about your child’s health history. A genetic blood or saliva test may help diagnose the disorder along with other blood tests.

Other tests that may confirm MD include:

  • Muscle biopsy. A sample of muscle is looked at under a microscope.

  • Electromyogram. This test can find out if there is breakdown of muscle tissue.

  • Electrocardiogram (ECG). This test can spot heart problems, such as an irregular heartbeat or damage to the heart muscle.

  • Blood tests. These can look for signs of muscle breakdown.

Treating muscular dystrophy

MD is a lifelong condition. There is no cure. But managing it can prevent problems and deformities. The exact treatment depends on many things. They include the child’s age, overall health, and the type of MD.

Over time, a child with MD may need a wheelchair because of weak leg muscles. Keeping the child as independent as possible is the main focus of treatment. Options include:

  • Physical therapy

  • Medicines including deflazacort

  • Psychological and nutritional counseling

Braces and splints may support and protect muscles. Special devices can help a child sit, stand, or lie down. Surgery may also be needed to fix scoliosis or other related problems.

If breathing is affected, there are devices that can help. These can be noninvasive, such as a CPAP (continuous positive airway pressure) machine. Or they can be more invasive, such as a mechanical ventilator.

If swallowing is affected, your child may need a change in diet or a feeding tube.