Duchenne muscular dystrophy (DMD) is a genetic condition characterized by progressive weakening of voluntary muscles. It is the most common form of muscular dystrophy affecting young boys. Symptoms begin in early childhood and include difficulty walking, enlarged calves, and muscle fatigue. DMD is caused by a defective gene that causes a lack of the protein dystrophin in muscles. There is no cure, but treatment aims to prolong muscle function through steroid use and physical therapy. Most individuals with DMD pass away in their 20s due to respiratory or heart failure.

1. Duchenne Muscular
Dystrophy
DHARMANSHU GADHIYA
SHARAN BALAJI SHRIVASTAVA

2. What Is Duchenne Muscular Dystrophy?
 There are nine types of muscular dystrophy. Duchenne muscular dystrophy
(DMD) is a genetic condition characterized by progressive weakening of voluntary
muscles. DMD worsens more rapidly than other types of muscular dystrophy. It’s
also the most common form of muscular dystrophy. The Centers for Disease
Control and PreventionTrusted Source estimated that one out of every 5,600 to
7,700 males between 5 and 24 years of age has DMD.
 The symptoms of DMD begin in early childhood, and those with DMD usually die
in early adulthood.
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3. What Are the Symptoms of Duchenne
Muscular Dystrophy?
• difficulty walking
• a loss of ability to walk
• enlarged calves
• learning disabilities, which occurs in about one-third of affected
individuals
• a lack of motor skills development
• fatigue
• rapidly worsening weakness in the legs, pelvis, arms, and neck
The symptoms of DMD
generally start to appear
between ages 2 and 6.
Many children with DMD
develop normally during
infancy and early
childhood. DMD
symptoms may include:
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4. What Causes Duchenne Muscular
Dystrophy?
Duchenne muscular dystrophy is a form of muscular dystrophy. It worsens quickly. Other muscular dystrophies
(including Becker muscular dystrophy) get worse much more slowly.
Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). However, it often
occurs in people without a known family history of the condition.
The condition most often affects boys due to the way the disease is inherited. The sons of women who are carriers of the
disease (women with a defective gene, but no symptoms themselves) each have a 50% chance of having the disease. The
daughters each have a 50% chance of being carriers. Very rarely, a female can be affected by the disease.
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5. How Is Duchenne Muscular Dystrophy
Diagnosed?
Routine wellness exams may uncover signs of muscular dystrophy. You and your child’s pediatrician may notice that
your child’s muscles are weakening and that your child has a lack of coordination. Blood tests and muscle biopsies can
confirm a diagnosis of DMD.
The blood test used to reach this diagnosis is called a creatine phosphokinase test. When muscles deteriorate, they
release a large amount of creatine phosphokinase enzyme into the blood. If the test detects high levels of creatine
phosphokinase, muscle biopsies or genetic tests will determine the type of muscular dystrophy.
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6. What Are the Treatment Options for
Duchenne Muscular Dystrophy?
• Children with DMD often lose the ability to walk and require a wheelchair by about age 12. Leg bracing
may extend the amount of time a child can walk independently. Regular physical therapy keeps the
muscles in the best possible condition. Steroid treatments may also prolong muscle function.
• Weakening muscles can cause conditions such as scoliosis, pneumonia, and abnormal heart rate. A
doctor should treat and monitor conditions as they occur.
• Lung function begins to deteriorate in the late stages of the disease. A ventilator may be necessary to
prolong life.
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7. What Is the Long-Term Outlook?
DMD is a fatal condition. Most individuals with DMD
pass away during their 20s. However, with diligent care,
some people with DMD survive into their 30s. In the later
stages of the disease, most people with DMD will need
full-time care to maintain quality of life.
The condition is degenerative, which means that the
need for medical care increases as the condition
worsens. As symptoms begin to appear between ages 2
and 6, the child will usually need regular monitoring by a
medical team. As the final stages of the disease emerge
during the teen and young adult years, the person may
need to enter the hospital or receive hospice care.
If you have DMD or are a parent whose child has DMD,
seek support from friends and family. You can also
locate support groups where you can talk and listen to
others going through the same experience.
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8. How to Prevent Duchenne Muscular
Dystrophy ?
You can’t prevent DMD before conception because it passes down from the
mother. Geneticists are researching technology that may be able to prevent the
defect from being passed on, but they haven’t discovered a successful cure.
Genetic testing before conception can determine whether a couple has an
increased risk of having children with DMD.
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