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Symptoms of Muscular Dystrophy

Symptoms of Childhood Illnesses

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Updated April 30, 2014

Muscular dystrophy (MD) is a group of X-linked genetic disorders that cause children to have progressive muscle weakness. About 1 out of every 3,500 to 5000 boys are born with MD, so there are about 400 to 600 new cases each year in the United States.

Among the different forms of muscular dystrophy, Duchenne muscular dystrophy (DMD) is the most common. Becker muscular dystrophy (BMD) is a milder form of muscular dystrophy. Other forms of muscular dystrophy include myotonic MD and facioscapulohumeral MD, which often appears in the teen years.

Being X-linked, muscular dystrophy almost exclusively affects males, with most boys inheriting the mutation from their mother. In about one third of children with muscular dystrophy, their mother is not a carrier for MD and they developed it as a new mutation.

Symptoms of Muscular Dystrophy

Parents often first begin to suspect that a child has muscular dystrophy when they are about 3 to 6 years old and they notice that their child:
  • is frequently falling down
  • has difficulty getting up when he is sitting or lying down
  • has difficulty climbing stairs
  • had a delay in walking on his own
  • has enlarged calf muscles (pseudohypertrophy)
  • is walking on his toes in a kind of 'waddle'
  • walks with his shoulders pushed back (lordosis)
  • gets easily tired during or after routine physical activities

Testing for Muscular Dystrophy

If your pediatrician suspects that your child may have muscular dystrophy, she will likely begin by testing the creatine kinase (CK) level in his blood. This muscle enzyme is very high in children with muscular dystrophy.

After finding a high CK level, your Pediatrician will likely do DNA testing to look for mutations in the gene that makes dystrophin, an important muscle protein. If this genetic testing is negative, then a muscle biopsy may be done to confirm the diagnosis of muscular dystrophy.

Newborn Screening for Muscular Dystrophy

Although it is possible to screen newborns for muscular dystrophy by testing their level of creatine kinase, it is not routinely done. One of the big problems is that only about 10 percent of newborns with a high CK level will actually have muscular dystrophy. The other 90 percent will have CK levels that return to normal when they are a few weeks old.

Muscular Dystrophy Treatments

According to the CDC, 'there are a few treatments that can help slow the progression of muscle loss, such as use of steroids, but there is no cure.'

The NIH reports that 'the prognosis of MD varies according to the type of MD and the progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while other cases may have more marked progression of muscle weakness, functional disability, and loss of the ability to walk. In Duchenne MD, death usually occurs in the early 20s.'

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