Muscular dystrophy is a group of more than 30 distinct disorders that all impair the body’s normal process of building and restoring muscle, causing permanent damage. As muscular dystrophy progresses, people experience varying levels of weakness and muscle-control problems. Some will be able to walk and move independently for the rest of their lives, but most patients will eventually need a wheelchair. 

Muscular dystrophy affects children and adults. Because the disorder is so varied, it can be frustrating to get proper diagnosis and treatment. However, with proper care, it is possible for patients with muscular dystrophy to maintain a good quality of life. At Yale Medicine, our doctors not only treat your disease but also help you incorporate treatment into all aspects of your life. 

Patients with muscular dystrophy have a genetic mutation that impairs the body’s process of creating proteins to build muscles and regenerate tissue. Over time, muscle fibers break down, leading to progressive muscle weakness and impaired coordination.

Muscular dystrophy is rare, and the most common muscular dystrophies (Duchenne and Becker), affect 14 out of every 100,000 males between ages 5 to 24.

In some cases, genetic tests performed on a patient’s blood can make a definitive diagnosis. Diagnostic techniques such as nerve conduction studies (NCS) can evaluate nerve and muscle function, helping to identify the muscles impacted by the condition. Doctors may also conduct muscle biopsies to diagnose.

Early diagnosis of muscular dystrophy can help patients prepare for future symptoms and achieve a better quality of life. For patients with a family history of muscular dystrophy, genetic testing is available.

Patients with muscular dystrophy should be treated as soon as possible to improve quality of life and help prevent future complications. Treatment can help patients prevent dangerous falls and prepare for any heart or breathing problems that may arise. While there is no cure for muscular dystrophy, some patients can find relief from cramps or spasms by taking muscle relaxers.

Others may find that wearing orthotics on the legs can help preserve mobility. Eventually, surgery might be needed to correct severe spinal deformities, or release severe contractures (tendon tightening). Clinicians at Yale Medicine advise patients on strategies to change diet to softer foods that will make eating easier or to make in-home modifications to assist with better movement.

In extreme cases, breathing aids and feeding tubes may become a necessary part of treatment. Muscular dystrophy is also an area of active pharmaceutical research, with several drugs nearing approval.

These exploratory medications work in different ways. Some work to slow down disease progression and maintain muscle function, while others employ so-called “gene editing” techniques to restore the body’s ability to create proteins essential for normal muscle maintenance. One drug, Ataluren, has already been approved in Europe to treat Duchenne muscular dystrophy.

“Each patient will have an individual experience, with different levels of functional decline,” said Huned Patwa, MD, co-director of the Neuromuscular Program. “Physicians are here to follow this disease, anticipate any problems a patient will have and make early response decisions. 

“When patients receive treatment at a specialized muscular dystrophy clinic, higher patient satisfaction and better overall quality of life is reported,” said Patwa.  In addition, most patients have primary caregivers, usually family members who take care of the growing needs. Caregivers of patients treated at MDA clinics report higher levels of satisfaction too, Patwa said.

For the last 20 years, Yale Medicine’s Neuromuscular Program has been a certified Muscular Dystrophy Association (MDA) program. That certification makes Yale Medicine one of 200 clinics in the country especially qualified to diagnose and treat patients with muscular dystrophy.

In addition, the Yale Medicine Muscular Dystrophy Program was the 13th clinic in the country to be named a Certified Duchenne Care Center by the nonprofit organization Parent Project Muscular Dystrophy.

Patients treated at Yale Medicine will have access to resources provided by MDA, such as financial services counseling. Yale clinicians are highly experienced neuromuscular disease specialists, with access to the best diagnostic tools available.

Since muscular dystrophy can lead to a wide array of symptoms, the clinic employs an approach to treatment that involves experts in respiratory disorders, cardiac disorders, swallowing disorders, and pain management. Clinicians also have access to an on-campus wheelchair clinic and orthotics assessments. In addition to offering top quality clinical care, Yale Medicine researchers are also studying the cause of neuromuscular disorders and exploring potential treatments.