Muscular dystrophies are a group of different genetic diseases characterized by progressive weakness due to degeneration of the muscles that control movement. Some forms are seen in childhood, but other types may begin later in life. The disorders differ in terms of the distribution of and extent of muscle weakness, rate of progression and pattern of inheritance.
What are the causes of muscular dystrophy?
Muscular dystrophy can run in families, or you can be the first one in your family to have it. The condition is caused by problems in your genes.
Genes contain the information your cells need to make proteins that control all of the different functions in the body. When a gene has a problem, your cells can make the wrong protein, the wrong amount of it, or a damaged protein.
You can get muscular dystrophy even if neither of your parents had the disease. This happens when one of your genes gets a defect on its own. But it’s rare for someone to get it this way.
In people with muscular dystrophy, the broken genes are the ones that make the proteins that keep muscles healthy and strong. For example, those with Duchenne or Becker muscular dystrophies make too little of a protein called dystrophin, which strengthens muscles and protects them from injury.
Symptoms
For most types of muscular dystrophy, symptoms start to show up in childhood or in the teen years. In general, children with the condition:
- Fall down often
- Have weak muscles
- Have muscle cramps
- Have trouble getting up, climbing stairs, running, or jumping
- Walk on their toes or waddle
Some will also have symptoms like:
- A curved spine (called scoliosis)
- Droopy eyelids
- Heart problems
- Trouble breathing or swallowing
- Vision problems
- Weakness in the muscles of the face