Muscular Dystrophy Diagnosis and Treatment

If you or someone you care about has ongoing muscle weakness, it's important to find out what's causing it. Muscular dystrophy (MD) can look different in each person, and its symptoms will vary.

At Banner Health, our specialists use a step-by-step approach to diagnose MD and provide treatment focused on improving strength, function and quality of life. 

How muscular dystrophy is diagnosed

Diagnosis usually begins with a detailed conversation with your health care provider about your symptoms and medical history. They will ask when the weakness began, how it has changed over time and if anyone in your family has muscle problems.

A physical and neurological exam checks your muscle strength, tone, reflexes and movement. Based on what they find, your provider might recommend one or more tests.

Blood tests

Blood tests can measure creatine kinase (CK), a protein that leaks into the blood when muscle fibers are damaged. High CK levels might mean there is muscle disease and can help decide what to do next. 

Genetic testing

Muscular dystrophy is a disease that runs in families, which means it is inherited. Genetic testing looks for changes in genes, chromosomes or proteins that affect muscles. Finding these changes can help determine if someone has muscular dystrophy and what type they have.

The results from testing can guide how your health care provider cares for you. They can help choose the best treatment, decide which tests are needed and see if other family members might be at risk. Some people also use genetic testing for family planning or prenatal testing.

Genetic testing should be done with the assistance of a geneticist, genetic counselor or someone with training in genetic diseases. 

Imaging and muscle studies

Imaging and muscle tests help providers see how muscles and nerves work. These tests are often used with blood tests and genetic tests to find out why muscles are weak. 

These tests may include:

• Magnetic resonance imaging (MRI) and ultrasound imaging: These use radio waves and sound waves, respectively, to look at muscle size and structure.
• Electromyography (EMG): This test measures how muscles react to signals from nerves. Small sensors are placed on the muscles to record activity. EMG can help tell the difference between muscle disease and nerve-related conditions.
• Nerve conduction studies: These tests measure how quickly electrical signals move through nerves. These tests help providers figure out if weakness is caused by the nerves, the muscles or both.

Muscle biopsy

In some cases, a muscle biopsy may be needed. This test involves taking a small sample of muscle and looking at it under a microscope. It can find muscle damage and missing or unusual proteins. 

Your care team

Muscular dystrophy can affect more than just your muscles, which is why care often involves a team of specialists working together. At Banner Health, your care team is built around your specific needs and might change over time.

Your care team may include:

• Neurologists and neuromuscular specialists
• Pulmonologists (lung specialists)
• Cardiologists (heart specialists)
• Endocrinologists (hormone specialists)
• Orthopedic specialists
• Genetic specialists or genetic counselors
• Physical, occupational and speech therapists
• Social workers
• Registered dietitians
• Palliative care specialists

This team approach makes sure all parts of your health are addressed. 

How muscular dystrophy is treated

There is no cure for muscular dystrophy. Treatment focuses on stabilizing the muscles and helping to control symptoms caused by weak muscles.

Therapeutic medications

There are now medications available for some forms of muscular dystrophy. These medications may slow the disease or stabilize muscles.  Some of these medications are designed to address a specific genetic problem or type of MD. 

While therapeutic medications are not available for all forms of muscular dystrophy, some medications can benefit a wider group of patients. These may include medications to support energy, reduce inflammation, or manage symptoms.

Rehabilitation and therapy

For all people with muscular dystrophy, treatment will also include managing symptoms, slowing progression and helping people stay independent and mobile longer. Your treatment plan will be tailored to your type of MD, your symptoms and how advanced the disease is. 

• Rehabilitation therapy: Rehabilitation is very important for people with muscular dystrophy. It is recommended for all types of MD. 
• Physical therapy: Some exercises or activities can help keep your muscles strong, flexible and balanced. A physical therapist can help you move better and do everyday activities more easily.
• Speech or occupational therapy: Speech or swallowing therapy might help if your face or throat muscles are weak. Occupational therapy helps with daily activities, work and school tasks.

Surgery

Surgery might be suggested in some cases to help improve how you work or to prevent problems. The type of surgery depends on the kind of MD and how it affects your body. 

Examples may include:

• Surgery to release tight muscles or correct joint contractures
• Spinal fusion surgery to straighten and stabilize the bones of the spine (e.g., scoliosis)
• Procedures to improve swallowing or eyelid function 
• Orthopedic surgery to improve posture or mobility

Surgery will be carefully considered and planned as part of your overall care.

Medical devices and assistive aids

Medical devices and aids can help keep you safe, comfortable and independent. These tools are chosen based on your needs and goals.

They may include:

• Braces or orthotics for support and stability
• Mobility aids such as canes, walkers or wheelchairs
• Breathing support devices if your respiratory muscles are affected
• Adaptive tools to help with daily activities

Your care team can help you pick the right devices and show you how to use them safely.

Monitoring and follow-up testing

Since muscular dystrophy can affect muscles, the heart and breathing over time, it is important to have regular check-ups. Follow-up tests might include:

• Heart tests such as echocardiograms or electrocardiograms (EKG)
• Breathing tests to check lung function
• Imaging or muscle assessments to track progression

When to see a health care provider

You should see a provider if you or your loved one has:

• Muscle weakness that worsens over time
• Trouble walking, lifting or doing daily activities
• Delayed motor development
• A known family history of muscular dystrophy

How Banner Health can help

At Banner Health, we take a team-based approach to muscular dystrophy care. From diagnosis through long-term management, we work together to support your physical health and overall well-being. 

Schedule an appointment today.

Related pages

• Living with muscular dystrophy
• Types of muscular dystrophy 
• Muscular dystrophy overview