If you or a loved one is experiencing symptoms of muscular dystrophy, such as muscle weakness or difficulty walking, understanding the diagnosis process is key. Knowing what to expect can help you feel more prepared and confident as you move forward.

Muscular dystrophy is diagnosed by a health care professional called a neurologist, who specializes in conditions affecting nerves and muscles. Because muscular dystrophy is a genetic condition, a genetic counselor may also be involved in the diagnosis. Genetic counselors can explain test results, help you understand what they mean for you and your family, and guide you through the next steps. The earlier muscular dystrophy is diagnosed, the quicker treatment can begin. Let’s learn more about when to seek a diagnosis and what the process involves.

Symptoms of Muscular Dystrophy and When To Seek Diagnosis

The main symptom of muscular dystrophy is muscle weakness. Other symptoms vary depending on the type of muscular dystrophy and which muscles are affected.

Common Symptoms in Children

Duchenne muscular dystrophy (DMD) is the most common type of muscular dystrophy diagnosed in children. When a child has muscular dystrophy, caregivers may notice symptoms such as:

• Slow growth
• Delays in walking
• Clumsiness
• Difficulty climbing stairs
• Trouble walking or running
• Walking on the balls of the feet
• Frequent falling

Common Symptoms in Adults

When muscular dystrophy develops in adults, noticeable muscle weakness often leads people to visit their health care provider. For example, in myotonic dystrophy — a type of muscular dystrophy often diagnosed in adults — some muscles can stay tight and be difficult to relax. Other symptoms in adults that might prompt a visit to a health care provider include:

• Difficulty walking
• Joint contractures (stiff joints)
• Loose joints
• Muscle cramps
• Heart problems
• Breathing problems

If you or your child is experiencing any of these symptoms, diagnostic tests help your health care provider determine the type of muscular dystrophy or rule out other causes.

1. Physical Exam

A physical exam is usually the first step in getting a muscular dystrophy diagnosis. During a physical exam, a health care provider will check your overall health and look for signs and symptoms of muscular dystrophy. Your doctor may do tests to check your muscle strength, reflexes, and coordination. They may also observe how you walk and check for scoliosis (spinal curvature).

2. Creatine Kinase Blood Tests

Creatine kinase (CK) is an enzyme, or a type of protein, that is often elevated in people with muscular dystrophy. If your health care provider thinks you may have muscular dystrophy, they will check your CK levels with a blood test.

High CK levels happen when a muscle becomes damaged and leaks this enzyme into the blood. When a person doesn’t have an obvious muscle injury, high CK levels in the blood suggest a disease that affects the muscles, such as MD or inflammation in the muscle. However, it’s not possible to determine the cause of high CK levels from this test alone.

People with muscular dystrophy may have high CK levels before symptoms first appear. Over time, CK levels in people with muscular dystrophy may return to normal. A normal CK level in someone with muscular dystrophy may mean that a significant amount of muscle has been replaced by scar tissue or fat.

3. Genetic Testing

Genetic testing examines your DNA to look for mutations — changes in your genes — linked to muscular dystrophy. Usually, a blood sample is used for this test. Genetic testing can confirm a muscular dystrophy diagnosis in people with signs and symptoms of the disease.

A health care provider may recommend genetic testing in people with elevated CK levels or children with motor delays, such as trouble walking or moving normally for their age. The results of a genetic test may also help determine whether a certain treatment could be effective.

Because muscular dystrophy is a genetic disease, people with family members who have the disease may undergo genetic testing, even if they don’t have symptoms. Genetic testing can help determine whether a family member is a carrier of the gene for muscular dystrophy. This can be helpful information because carriers can pass on the gene for muscular dystrophy even if they don’t have the disease themselves.

The results of your genetic test are confidential and won’t affect your ability to get a job or health insurance.

4. Muscle Biopsy

A muscle biopsy involves removing a small sample of muscle tissue for examination under a microscope. This test helps doctors tell the difference between muscular dystrophy and other muscle problems that can also cause muscle inflammation. It can also be used to tell which type of muscular dystrophy a person has or monitor your response to certain treatments.

During a muscle biopsy, a health care provider will remove a sample of muscle tissue using a needle or small scissors. Most of the time, you can go home on the same day this procedure is performed. Risks of a muscle biopsy include infection, bleeding, and bruising.

Muscle biopsy for muscular dystrophy used to be more common. However, newer techniques, such as genetic testing, mean that a muscle biopsy isn’t always needed for a muscular dystrophy diagnosis. In fact, genetic testing is still usually done to confirm the diagnosis, even in people who also undergo a muscle biopsy.

5. Electromyography

Nerve conduction studies and electromyography (EMG) are tests used to measure the electrical activity of your nerves and muscles. While these tests alone can’t diagnose muscular dystrophy, their results can help confirm if symptoms are caused by a muscle disease.

During this test, a health care provider will insert a needle with an electrode into your muscle. Then, they will measure the amount of electrical activity as you contract and relax that muscle. The test usually takes about 60 to 90 minutes. Most people don’t have any complications related to an EMG. However, it can cause muscle tenderness and bruising for a few days after the test.

6. Imaging Tests

Imaging tests provide detailed pictures of the inside of the body and can help diagnose muscular dystrophy. Two common types are MRI scans, which use a magnetic field and radio waves to create images, and ultrasounds, which use sound waves to produce images. These imaging tests may be used to look for muscle damage and scarring.

7. Heart Function Tests

Many types of muscular dystrophy, such as myotonic dystrophy, can affect the heart muscle. That’s why part of the diagnostic process may also involve tests to check how well the heart is working.

An electrocardiogram (ECG) and echocardiogram are two tests that are commonly used to check heart function. An ECG records the electrical activity of the heart and can help detect an irregular heartbeat. During this test, electrodes are attached to the chest to measure the heart’s electrical signals. ECGs are safe but can cause skin irritation where the electrodes are placed. This test may be especially important for people with myotonic dystrophy, which can cause a weak or irregular heartbeat.

An echocardiogram is a type of ultrasound test that checks the structure of the heart. During this test, a health care provider will move an ultrasound wand around your chest to create an image of your heart and heart valves. This test usually takes between 40 and 60 minutes.

Your health care provider may recommend repeating these tests regularly, often once a year, to monitor your heart.

8. Lung Function Tests

Lung function tests may be needed if muscular dystrophy affects the muscles used for breathing, such as in DMD. These tests measure how much air your lungs can hold, how well they move air in and out, and how effectively they absorb oxygen.

Your health care provider may recommend repeating these tests regularly (often yearly) to monitor how your lungs are working.

Talk to Your Doctor

Diagnosing muscular dystrophy involves several tests that work together to provide a clear picture of what’s happening in your body. Early diagnosis can lead to quicker treatment and better management of symptoms. If you or a loved one is experiencing signs of muscular dystrophy, talk to a health care provider about the best steps to take. With the right tests and support, you can find the answers and care you need.

Find Your Team

On myMDteam, the site for people with muscular dystrophy and their loved ones, members come together to gain a new understanding of muscular dystrophy and share their stories with others who understand life with the condition.

Have you undergone testing for muscular dystrophy, such as genetic testing or a muscle biopsy? What was that like? Share your experiences in the comments below or by posting to your Activities page.