Muscular dystrophy is a term that refers to a number of diseases that cause progressive loss of muscle mass resulting in weakness and, sometimes, loss of mobility.

There are many different kinds of muscular dystrophy, each affecting different groups of muscles. In some types of muscular dystrophy, symptoms begin in childhood. In other forms, symptom onset doesn’t occur until adulthood.

Each of the different types of muscular dystrophy is caused by a mutation, or flaw, in a gene that interferes with the production of proteins needed to form and maintain healthy muscle. Such mutations may result in cells manufacturing a defective form of a particular protein, or insufficient (or completely absent) levels of that protein.

Muscular dystrophy affects everyday activities

Children born with severe forms of muscular dystrophy may never gain the ability to walk or achieve other developmental milestones. Some older children and adults who develop muscular dystrophy may eventually lose the ability to walk and will need to use a scooter or wheelchair to help maintain mobility and independence. Some may have trouble breathing, which may require the use of a ventilator to help maintain respiratory function. Others may experience weakness with the muscles involved in swallowing; this can cause nutritional problems that may be alleviated with diet modification and/or the use of a feeding tube.

Depending on the type, muscular dystrophy may involve intellectual disabilities, learning disabilities, eye defects or seizures.

Other complications can include:

• Contractures. The shortening of muscles or tendons around joints can further limit mobility that already is impaired by muscle weakness.
• Scoliosis. A curvature in the spine can occur when weakened muscles are unable to hold the spine straight.
• Heart problems. Muscular dystrophy can cause changes to the heart muscle that reduce its efficiency.

There is no cure for muscular dystrophy. But medications and therapy can help manage some symptoms and potentially slow the course of the disease.

When to seek medical advice

Talk with your pediatrician if you notice a lack of muscle tone (called hypotonia) in infants. Additionally, you should let your doctor know if your infant or toddler experiences delays in meeting motor milestones — such as rolling over, sitting up or walking — or fails to meet them at all.

Signs of muscle weakness — such as increased clumsiness and falling — in yourself or your child also may be cause for concern.

You can also give our MDA Resource Center a call if you’re looking for one-on-one support at 800-572-1717.

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