How Is Muscular Dystrophy Diagnosed?

Diagnosis

If you or a doctor suspect you or your child may have muscular dystrophy, the doctor will likely conduct a physical examination and ask you questions about your family medical history. If more testing is needed, they may perform one or more of the following tests to diagnose muscular dystrophy:

  • Genetic testing: The doctor can examine blood samples to look for mutations in the genes that cause muscular dystrophy.
  • Enzyme testing: Testing for an enzyme called kinase, high levels of which can indicate muscle damage caused by muscular dystrophy, can help your doctor make a diagnosis.
  • Electromyography (EMG): This test can show the level of electrical activity in muscles and nerves. Changes in the electrical patterns can indicate muscular dystrophy.
  • Muscle biopsy: The physician can remove a small portion of muscle and analyze it to distinguish between muscular dystrophy and other diseases that may cause similar symptoms.

How Is Muscular Dystrophy Treated?

Treatment

There is, unfortunately no cure for any of the muscular dystrophies. Researchers are working on improving treatments for muscular dystrophy, which may be administered by an interdisciplinary team including pulmonologists, cardiologists, neurologists, and more. Several companies are working on cutting-edge gene therapies that may be approved soon for some forms of muscular dystrophy. Several categories of treatment for muscular dystrophy currently exist:

Therapy

Physical therapy, including stretching, range-of-motion, and low-impact exercises, can keep joints flexible and increase muscle strength. It’s important to discuss any exercise options with your doctor, as some forms of exercise may be harmful rather than helpful. Using leg braces or a wheelchair can help with mobility and function during therapy and daily life.

Medication

A doctor may prescribe various medications to someone with muscular dystrophy, including corticosteroids, which can help muscles develop strength and slow the progression of the disease. They may also prescribe a heart medication, such as a beta-blocker, if muscular dystrophy has damaged the heart.

Surgery

Surgery may be used to correct spinal curvature caused by muscle degeneration or to implant a medical device such as a pacemaker.

Medical devices

Many devices can help alleviate various complications and symptoms of muscular dystrophy, including a pacemaker, cough-assist device, and respirator. Your doctor may recommend the use of one of these devices in conjunction with medication or therapy.

FAQs

FAQs

Muscular dystrophy is not an autoimmune disease. It is a progressive genetic disease in which mutated genes interfere with healthy muscle function.

Muscular dystrophy is not an autoimmune disease. It is a progressive genetic disease in which mutated genes interfere with healthy muscle function.

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Trust NewYork-Presbyterian for Muscular Dystrophy Treatment

At NewYork-Presbyterian, our physicians have a keen understanding of the signs and symptoms of muscular dystrophy and can diagnose the disease at the earliest time for the best chances of effective treatment. Our interdisciplinary team has years of experience treating muscular dystrophy and other degenerative diseases, so we have a thorough understanding of how to best treat the disease and can offer cutting-edge care.