Muscular Dystrophy

Diagnosis

Diagnosis of muscular dystrophy begins with a detailed medical history for you or your child, including overall health and past illnesses. This is followed by a physical examination to assess muscle strength, tone, and function.

Based on the suspected type of muscular dystrophy, the healthcare team may recommend specific tests. These tests help confirm the diagnosis and identify the exact type of muscular dystrophy.

Enzyme tests
Damaged muscles release enzymes into the bloodstream. One key enzyme is creatine kinase. High levels of creatine kinase in someone without a recent serious injury often point to an underlying muscle disease.

Genetic testing
Blood samples are analyzed to detect changes in genes known to cause different types of muscular dystrophy. Genetic testing can help confirm the diagnosis and guide treatment decisions.

Muscle biopsy
A small piece of muscle tissue may be removed using a minor incision or a hollow needle. Laboratory examination of this tissue helps distinguish muscular dystrophy from other muscle disorders.

Heart monitoring tests
Tests such as electrocardiography and echocardiogram are used to evaluate heart function. These are especially important in certain types, such as myotonic muscular dystrophy, where heart involvement is common.

Lung function tests
These tests assess how well the lungs are working and help detect early breathing problems.

Electromyography
This test measures electrical activity in muscles using a small needle. Changes in electrical patterns can confirm the presence of a muscle disorder. It is rarely used to diagnose Duchenne or Becker muscular dystrophy today.

Treatment

There is no cure for muscular dystrophy. However, treatment can help manage symptoms, slow disease progression, and improve quality of life. Treatment goals often include preserving muscle strength, preventing complications, maintaining independence, and supporting heart and lung health.

Some types of muscular dystrophy, especially Duchenne muscular dystrophy, now have expanding treatment options due to ongoing research.

People with muscular dystrophy usually require lifelong monitoring by a healthcare team. Care is often coordinated by a primary care doctor and includes specialists experienced in neuromuscular conditions.

The care team commonly includes:

• A neurologist with expertise in neuromuscular diseases

• A physical medicine and rehabilitation physician who focuses on function, independence, and pain reduction

• A physical therapist to support movement, strength, and flexibility

• An occupational therapist to help with daily activities

Depending on individual needs, other specialists may also be involved, such as:

• A pulmonologist and respiratory therapist for breathing support

• A cardiologist for heart care

• A sleep specialist

• An endocrinologist for bone health and growth issues

• An orthopedic surgeon for bone and joint problems

• A gastroenterologist for digestive concerns

• A palliative care specialist for symptom support

• A genetics specialist or counselor to explain disease course and inheritance

Additional support professionals may include:

• A speech therapist for swallowing and communication

• A dietitian or nutritionist for specialized dietary needs

• A social worker for practical support and community resources

• A psychologist or psychiatrist to address emotional or behavioral concerns

Treatment plans often involve medicines, physical and occupational therapy, assistive equipment, surgery, and regular assessments of walking, breathing, swallowing, and hand function to adjust care over time.

Medicines

Your healthcare provider may recommend medications, including:

Corticosteroids
Medicines such as prednisone and deflazacort can help maintain muscle strength and slow disease progression in some forms of muscular dystrophy. Long-term use may cause side effects such as weight gain and weakened bones, increasing fracture risk.

Targeted medicines and gene therapies
Certain treatments are designed for people with Duchenne muscular dystrophy who have specific gene changes. These options continue to expand and may include drugs such as eteplirsen, golodirsen, viltolarsen, casimersen, and delandistrogene moxeparvovec-rokl. Availability can vary by country.

Heart medicines
If the heart muscle is affected, medicines such as ACE inhibitors or beta blockers may be prescribed to manage heart function.

Therapy and supportive care

Various therapies and assistive devices help improve daily function and quality of life. In some cases, they can also extend life expectancy.

Range-of-motion and stretching exercises
These exercises help keep joints flexible and reduce stiffness caused by muscle weakness.

Exercise
Low-impact aerobic activities such as walking or swimming may support overall health and mobility. Some strengthening exercises may be suitable, but exercise plans should always be discussed with a healthcare professional.

Braces
Braces help keep muscles and tendons stretched, slow the development of contractures, and improve movement by supporting weak muscles.

Mobility aids
Canes, walkers, and wheelchairs help maintain independence and safe movement.

Breathing assistance
As breathing muscles weaken, breathing and coughing exercises may help. Some people need nighttime breathing support with a mask device, while severe cases may require a ventilator.

Surgery

Surgery may be recommended to correct contractures or spinal curvature that can interfere with breathing. In some cases, heart devices such as pacemakers may be needed to support heart function.

Preventing respiratory infections

Respiratory infections can be serious for people with muscular dystrophy. Staying up to date with vaccinations, including those for pneumonia, influenza, and COVID-19, is important. Avoiding close contact with people who are sick also helps reduce infection risk.