Muscular Dystrophy: Symptoms, Diagnosis, and Treatment
Muscular Dystrophy: Symptoms, Diagnosis, and Treatment
Your Guide to
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 Beck muscular dystrophies make too little of a protein called dystrophin, which strengthens muscles and protects them from injury.
For most types of muscular dystrophy, symptoms start to show up in childhood or in the teen years. In general, children with the condition:
Some will also have symptoms like:
Your doctor will need to check different parts of your child’s body to know if he has muscular dystrophy. He’ll start with a general physical exam. He’ll also ask you questions about your family’s medical history and the kind of symptoms you’re noticing in your child. He may ask:
He also may ask you questions about how your child plays, moves, and speaks, as well as how he acts at home and at school.
Muscular Dystrophy
Causes
Your Guide to
Muscular Dystrophy
- What Is Muscular Dystrophy?
- Causes
- Symptoms
- Getting a Diagnosis
- Questions for Your Doctor
- Treatment
- Taking Care of Your Child
- What to Expect
- Getting Support
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 Beck 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
Getting a Diagnosis
Your doctor will need to check different parts of your child’s body to know if he has muscular dystrophy. He’ll start with a general physical exam. He’ll also ask you questions about your family’s medical history and the kind of symptoms you’re noticing in your child. He may ask:
- Which muscles seem to be giving him trouble?
- Does he have a hard time walking or doing his usual activities?
- How long has this been happening?
- Does anyone in your family have muscular dystrophy? What kind?
He also may ask you questions about how your child plays, moves, and speaks, as well as how he acts at home and at school.
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