Diagnosis of Muscular Dystrophy

How is Muscular Dystrophy diagnosed?

Doctors use different methods for the diagnosis of muscular dystrophy. You should also remember that diagnosis can happen at any age depending on when the symptoms start to show.

Your doctor may recommend you or your child the following diagnostic tests:

• The doctor may investigate whether you or your child has symptoms of muscle dystrophy.
• The doctor may ask about your family history and if there is someone who has muscular dystrophy.
• You may be asked to undergo a creatinine kinase blood test. Your muscles release an enzyme called creatinine kinase when they are damaged. When there is a high of this enzyme it may be due to muscular dystrophy.
• Certain gene mutations are linked to muscular dystrophy. So, you may asked to undergo genetic tests.
• The doctor may also ask you to undergo an electrical test to understand the electrical activity of your muscles.
• You may have to undergo a muscle biopsy in which they will extract a small sample of your muscle tissue to examine whether you have muscle dystrophy.

How to Diagnose Muscular Dystrophy Early?

Parents and caregivers should look for the symptoms in their children and approach a doctor immediately. Doctors will check the child’s medical history and perform a physical examination. Then they would use some of these tests:

• Genetic testing is one of the ways doctors try to confirm MD. They will collect Blood samples and examine it for mutations in some of the genes that cause types of MD.
• An enzyme test is done to find out whether damaged muscle releases enzymes like creatine Kinase. If the child has not had any traumatic injury, the presence of this enzyme means a muscle disease is there.
• A heart monitoring test is done for people diagnosed with MMD. it is used to check how the heart is functioning.
• A lung monitoring test is also done to check lung function.
• Muscle biopsy is another procedure in which a small piece of muscle tissue is taken from the patient to find out whether the child has muscular dystrophy or some other muscle disease.

When to Consult a Doctor for Muscle Weakness and Mobility Issues?

If you notice muscle weakness and mobility issues in your child, you should immediately consult a doctor. The doctor will refer to the tests needed to confirm whether the child has MD.

Many parents struggle with how to share this diagnosis of MD with their children, other family members, and friends. But instead of carrying the burden alone when you share the diagnosis you can create a support system around you.

While talking to the child, create a safe space for them where they feel safe to ask questions. Children handle challenges better than we expect, so providing accurate and age-appropriate information helps them cope and prevent misunderstandings.

Frequently Asked Questions (FAQs):