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 Prevention 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.
Are the Symptoms of Duchenne Muscular Dystrophy?
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:
- 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
- rapidly worsening weakness in the legs, pelvis,
arms, and neck
Causes Duchenne Muscular Dystrophy?
DMD is a genetic disease. Those who inherit it have a
defective gene related to a muscular protein called dystrophin. This protein
keeps muscle cells intact. Its absence causes rapid muscular deterioration as a
child with DMD grows.
Is at Risk for Duchenne Muscular Dystrophy?
A family history of DMD is a risk factor, but the condition
may pass down without a known family history. A person can be a silent carrier
of the condition. This means that a family member can carry a copy of the
defective gene, but it doesn’t cause DMD in that person. Sometimes, the gene
can pass down for generations before affecting a child.
Males are more likely to have DMD than females. Males and
females who are born to a mother who carries the defective gene each have a
chance of inheriting the defect. However, girls who inherit the gene will be
asymptomatic carriers, and boys will present with symptoms.
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.
Are the Treatment Options for Duchenne Muscular Dystrophy?
There’s no cure for DMD. Treatment can only make symptoms less
severe and extend life expectancy.
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.
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.
Do I 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
Genetic testing before conception can determine whether a
couple has an increased risk of having children with DMD.