How Muscular Dystrophy Is Diagnosed

Obtaining an accurate muscular dystrophy diagnosis is one of the challenges the condition presents. Generally speaking, muscular dystrophy is caused by an absence or dysfunction of a protein called dystrophin, which works by creating a bridge between your muscle fibers and the surrounding area, helping to transfer your muscular contractions to adjacent areas. When this protein is not working properly or is absent, muscular wasting and weakness occur. Testing for this protein, amongst other tests, helps properly diagnose muscular dystrophy.

An analysis of symptoms also helps differentiate between the nine different types of muscular dystrophy. They are differentiated by their clinical presentation.

Self-Check/At-Home Testing

The initial diagnosis of muscular dystrophy is usually made when the onset of symptoms occur. Taking note of how your body is working—and changing—can lead you to suspect muscular dystrophy.

These symptoms may include:

• A weakness of muscles around your pelvis, hips, and legs, causing difficulty with walking and trunk control.
• Young age. Muscular dystrophy typically affects children, especially the Duchenne or Becker type.
• Difficulty standing and walking.
• Unsteady or waddling gait.
• Clumsiness and falling down.

If you are having any of these symptoms, it is imperative that you visit your healthcare provider right away. He or she can perform a clinical examination and testing to confirm—or rule out—muscular dystrophy and get you started on the best treatment for your condition.

Muscular Dystrophy Doctor Discussion Guide

Get our printable guide for your next healthcare provider's appointment to help you ask the right questions.

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Labs and Tests

Once your healthcare provider has performed a clinical assessment of your muscular weakness, he or she may order special tests to confirm the diagnosis. These may include:

• Blood tests. Specific enzymes are released into the bloodstream when there is muscle wasting. These enzymes, called serum creatine kinase and serum aldolase, may signify that muscle wasting is happening due to muscular dystrophy.
• Genetic testing. Since muscular dystrophy is a hereditary condition, genetic testing may be done on you and your parents to determine if the specific dystrophin gene is present on your X chromosome. This can confirm a diagnosis of muscular dystrophy.
• Strength testing. Strength testing using a dynamometer can give an accurate measurement of your strength and can lead your healthcare provider to confirm muscular dystrophy.
• Muscle biopsy. A muscle biopsy is a test where a small portion of your muscle tissue is removed and examined under a microscope. The examination may reveal information about the specific genes and protein that cause muscular dystrophy, leading to a diagnosis.
• Cardiac testing. Sometimes, muscular dystrophy can affect heart muscle tissue. Cardiac testing may be done to determine if your heart is affected by your condition.
• Electromyogram (EMG) testing. An EMG test is done to measure muscle function. Decreased muscle function may indicate muscular dystrophy.

Usually, the diagnosis of muscular dystrophy is not made by one specific test or measure; rather a multitude of tests and your clinical presentation are used to form an accurate diagnosis of your condition.

Imaging

Although the diagnosis of muscular dystrophy is largely made by clinical examination, genetic testing, and blood tests, your healthcare provider may order a magnetic resonance imaging (MRI) test. This is used to evaluate muscle bulk and tissue. Often as muscle wastes away, it is replaced by fatty tissue; an MRI can be used to evaluate this.

Differential Diagnosis

Even if you have weakness in your body (or one area of your body), it does not necessarily mean that you have muscular dystrophy. Other conditions may also cause muscle weakness. These may include:

• Cervical or lumbar myelopathy. This is weakness caused by compression of a peripheral nerve in your spine.
• Neurological conditions. Other neuromuscular conditions may cause weakness. These may include multiple sclerosis (MS) or amyotrophic lateral sclerosis (ALS).
• Weakness caused by medication. Some side effects of medications can cause muscle aches and weakness. Your healthcare provider and pharmacist can help determine if this is causing your weakness.

If you are feeling any sort of abnormal muscle wasting or weakness, you must see your healthcare provider right away. He or she can perform a comprehensive examination and rule in or out a diagnosis of muscular dystrophy. That way, you can get started on the best treatment and care for your condition.