Muscular dystrophy – Diagnosis and treatment – Mayo Clinic

Diagnosis

Your doctor is likely to start with a medical history and physical examination.

After that, your doctor may recommend:

There's no cure for any form of muscular dystrophy. But treatment can help prevent or reduce problems in the joints and spine to allow people with muscular dystrophy to remain mobile as long as possible. Treatment options include medications, physical and occupational therapy, and surgical and other procedures.

Your doctor may recommend:

Eteplirsen (Exondys 51), the first medication to be approved by the Food and Drug Administration specifically to treat Duchenne muscular dystrophy. It was approved conditionally in 2016 and will continue to be evaluated during an additional two years of use.

Although the medication appears safe, it's not clear how effective the drug is. It's definitely not a cure for DMD, but it may increase muscle strength in some people treated with the drug. Eteplirsen acts on specific gene variants that affect approximately one in seven people with DMD.

Several types of therapy and assistive devices can improve the quality and sometimes the length of life in people who have muscular dystrophy. Examples include:

Surgery may be needed to correct a spinal curvature that could eventually make breathing more difficult.

Respiratory infections may become a problem in later stages of muscular dystrophy. So, it's important to be vaccinated for pneumonia and to keep up to date with influenza shots. Try to avoid contact with children or adults who have an obvious infection.

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.

Dietary changes haven't been shown to slow the progression of muscular dystrophy. But proper nutrition is essential because limited mobility can contribute to obesity, dehydration and constipation. A high-fiber, high-protein, low-calorie diet may help.

A diagnosis of muscular dystrophy can be extremely challenging. To help you cope:

You may be referred to a doctor who specializes in the diagnosis and treatment of muscular dystrophy.

Don't hesitate to ask other questions during your appointment.

Your doctor is likely to ask you a number of questions. Being ready to answer them may leave time to go over points you want to spend more time on. You may be asked:

Feb. 06, 2018

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Muscular dystrophy - Diagnosis and treatment - Mayo Clinic