Muscular dystrophies are a group of diseases that make muscles weaker and less flexible over time. Duchenne muscular dystrophy (DMD) is the most common type. It’s caused by flaws in the gene that controls how the body keeps muscles healthy.
Duchenne muscular dystrophy is an inherited muscular disease that involves muscle weakness, which quickly gets worse. The disease almost always affects boys, and symptoms usually begin early in childhood.
Children with DMD have a hard time standing up, walking, and climbing stairs. Many eventually need wheelchairs to get around. They can also have heart and lung problems.
Symptoms most often appear before age 6. They may come on as early as infancy. Most boys show no symptoms in the first few years of life.
Symptoms may include;
- Learning difficulties (the IQ can be below 75)
- Intellectual disability (possible, but does not get worse over time)
- Begins in the legs and pelvis, but also occurs less severely in the arms, neck, and other areas of the body
- Problems with motor skills (running, hopping, jumping0
- Frequent falls
- Trouble getting up from a lying position or climbing stairs
- Shortness of breath, fatigue and swelling of the feet due to a weakening of the heart muscle
- Problem breathing due to a weakening of the respiratory muscles
- Gradual worsening of muscle weakness
Progressive difficulty walking;
- Ability to walk may be lost by age 12, and the child will have to use a wheelchair
- Breathing difficulties and heart disease often start by age 20.
There is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to improve quality of life.
Steroid drugs can slow the loss of muscle strength. They may be started when the child is diagnosed or when muscle strength begins to decline.
Other treatments may include;
- Assisted ventilation (used during the day or night)
- Drugs to help heart function, such as angiotensin converting enzyme inhibitors, beta blockers, and diuretics
- Orthopedic appliances (such as braces and wheelchairs) to improve mobility
- Spine surgery to treat progressive scoliosis for some people
- Proton pump inhibitors (for people with gastroesophageal reflux)
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