What Kind of Doctors Treat Duchenne Muscular Dystrophy?

What Doctors and Specialists Treat Duchenne Muscular Dystrophy?

Many types of healthcare professionals help diagnose and treat the symptoms and complications of Duchenne muscular dystrophy.
What Doctors and Specialists Treat Duchenne Muscular Dystrophy?
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Muscular dystrophy is a group of complex diseases that cause progressive muscle weakness and loss of muscle mass. There are lots of types of muscular dystrophy, and each patient’s disease course is different, so a number of specialists, therapists, and sometimes care coordinators or care managers are involved in a patient’s treatment. One type is called Duchenne muscular dystrophy (DMD). Here’s an overview of many of the doctors who treat different aspects of DMD and may need to be a part of a person’s care team.

Which Doctors Specialize in Duchenne Muscular Dystrophy?

Bone Health Specialist “Bone health is very important, because many people with muscular dystrophies are at risk of falling,” says Lauren Elman, MD, director of the Muscular Dystrophy Association Clinic at the University of Pennsylvania.

Bone health can be especially important in people with DMD and Becker muscular dystrophy. These individuals are at higher risk of osteoporosis, for a combination of reasons, including due to increased muscle weakness, lower vitamin D levels, and therapeutic steroid use.

Cardiologist Often, individuals with muscular dystrophy will need to see a cardiologist who specializes in heart diseases associated with a genetic muscle disease, according to Steven Shook, MD, a neurologist at the Cleveland Clinic who treats people with muscular dystrophy.

Many types of muscular dystrophy can come with heart problems, including heart failure from cardiomyopathy (heart muscle disease) and arrhythmias. Heart disease can be detected in people with DMD as early as age 10. The American Academy of Pediatrics recommends that people with Duchenne and Becker muscular dystrophies begin to have cardiac evaluations as soon as they are diagnosed.

Gastroenterologist Some types of muscular dystrophy, including Duchenne and Becker, may affect gastrointestinal (GI) motility, which refers to the movement of food throughout the digestive system. “In some cases, an individual may need a GI doctor with a lot of knowledge about the symptoms that can come with that,” says Dr. Elman.

A GI doctor can work to address the pain, bloating, and severe constipation that some people with muscular dystrophy experience, which can be life-threatening in some cases.

Other Healthcare Providers on the Care Team

Dietitian A registered dietitian is often included in the multidisciplinary care team to help manage nutrition and calorie intake. “People with muscular dystrophy need to try to maintain a healthy weight,” says Elman. “Weight gain is sort of the enemy in muscular dystrophy, because you don’t want to be carrying around too much weight on weak muscles,” she says. Since it’s hard for most people with muscular dystrophy to exercise, paying attention to diet is especially important, says Elman.

A nutrition professional can plan a diet with the appropriate number of calories that also contains the right amount of proteins, carbohydrates, and fats. “Keeping healthy vitamin D and calcium levels is also important to maintain bone health in people with muscular dystrophy,” says Elman.

RELATED: What to Eat and What to Avoid for Healthy Bones

Geneticist A clinical geneticist is either an internist or pediatrician with a specialty in genetics. The geneticist is usually the physician who diagnoses the specific type of muscular dystrophy, using genetic testing, and can direct the patient to the proper resources. The geneticist can also help with diagnosing other family members presymptomatically and with family planning. Some families with inherited muscular dystrophy undergo prenatal testing to determine whether their child will have the disease.

The genetics team may additionally include a genetics counselor or social worker, who can work with the patient and the patient’s family to help with understanding the disease (including the probability of other family members having the same condition) as well as with finding resources and accommodations, such as disability benefits, health insurance, school programs, physical therapy, and enrollment in clinical trials for treatment.

Neurologist “In some ways, the neurologist becomes the primary care doctor for people with muscular dystrophy and often follows them through their lifetime,” says Dr. Shook. “As neurologists, we coordinate care with a number of different specialists and subspecialists to make sure that we’re providing the best possible outcomes for that patient and really tailoring that care to meet their needs,” he says.

In some cases, neurologists may help with the treatment of depression and anxiety, which can be more common in people with muscular dystrophy, adds Shook.

“People with muscular dystrophy may also have pain issues at some point during the course of the disease, and so they would want one doctor who is willing to take responsibility for helping them manage their pain,” says Elman. That role could be taken by a neurologist, primary care doctor, or pain management doctor, according to Elman.

Orthopedist or Orthopedic Surgeon These doctors specialize in the bones, the joints, and the muscles attached to the bones. In muscular dystrophy, muscles around the joints can become contracted, which means fixed or frozen in a certain position. “This can cause pain and reduce the ability for someone to move,” says Shook. Bracing and exercise can sometimes be helpful, but there are cases where surgery is necessary, he says.

“Many of our patients have structural spine problems that can occur as part of their disease, including scoliosis, which is sideways curvature of the spine. In some cases, those patients do require back surgery,” says Shook.

Physical Therapist Depending on the type of muscular dystrophy an individual has, a physical therapist may be part of the care team, says Elman. Physical therapists can help guide and monitor exercise to help people with muscular dystrophy remain somewhat active (if possible), while also making sure that they aren’t pushing themselves so hard that it can damage muscles or worsen the course of their disease, she says.

Moderate exercise is good, but if you push to the point where you’re very sore for a few days after an activity, you probably did too much, says Shook.

Primary Care Doctor A person with muscular dystrophy will need a primary care doctor. Depending on the patient’s stage of life, this could be a pediatrician, family doctor, or internist. These doctors will take care of needs like immunizations, common infections, and conditions like high blood pressure.

Psychiatrist or Psychologist Depression and anxiety are more common in people with muscular dystrophy, says Shook. “Sometimes this can be managed by the neurologist or primary care doctor, but there are times when having a mental health professional can be very valuable,” he says.

Pulmonologist and Respiratory Therapist These experts are an important part of the healthcare team. Respiratory complications are sometimes a major cause of illness and even death for people with some types of muscular dystrophy, says Shook.

Pulmonologists regularly evaluate breathing in people with muscular dystrophy with a pulmonary function test. Based on the results, the doctor or the respiratory therapist can decide if and when an individual needs assistance from a ventilator or help with coughing and clearing mucus.

Sleep apnea should also be monitored and treated, since that is a common issue in people with muscular dystrophy.

Social Worker For some people, the most important specialist on the muscular dystrophy care team is their social worker, according to Shook. “These professionals can help connect patients with all the resources we have in the community to make sure they have the nursing care and nursing support at home that they need. In some cases, they even coordinate in-home visits from a primary care doctor or a neurologist to make sure patients have access to the best care possible,” he says.

Speech-Language Pathologist “Many people with muscular dystrophy see a speech and language pathologist at some point along the way to evaluate their swallowing or to help them with speech techniques to overcome any trouble they’re having with communication,” says Elman.

Sometimes people with muscular dystrophy can develop dysphagia, which is difficulty or discomfort in swallowing, and this can lead to dehydration, malnutrition, and weight loss.

How to Find Doctors for Duchenne Muscular Dystrophy

The Muscular Dystrophy Association (MDA) and Parent Project Muscular Dystrophy (PPMD) list specialized treatment centers on their websites:

Your pediatrician or primary care physician may also be able to direct you to specialists in your geographic area.

RELATED: Your Everyday Guide to Living Well With Muscular Dystrophy

The Takeaway

  • Many different types of muscular dystrophy, including DMD, exist and require various doctors and specialists to diagnose and treat.
  • A bone health specialist, cardiologist, and gastroenterologist are especially important for patients with DMD, but they can also benefit from having other professionals on their care teams.
  • Two websites, in addition to your pediatrician or primary care doctor, are good resources to find physicians who specialize in DMD.
EDITORIAL SOURCES
Everyday Health follows strict sourcing guidelines to ensure the accuracy of its content, outlined in our editorial policy. We use only trustworthy sources, including peer-reviewed studies, board-certified medical experts, patients with lived experience, and information from top institutions.
Resources
  1. Wood CL et al. Bones and Muscular Dystrophies: What Do We Know? Current Opinion in Neurology. October 2018.
  2. Cardiovascular Health Supervision for Individuals Affected by Duchenne or Becker Muscular Dystrophy. Pediatrics. 2005.
  3. Blokhuis AM et al. Severe Gastrointestinal Problems in Duchenne Muscular Dystrophy: A Case Series. Neuromuscular Disorders. July 2024.
  4. Meet the MDA Care Center Team. Muscular Dystrophy Association.
  5. Managing Dysphagia. Parent Project Muscular Dystrophy.
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Joy Tanaka, PhD

Medical Reviewer

Joy Tanaka, PhD, specializes in clinical molecular genetics. She is dedicated to integrating excellent clinical care with cutting-edge medical research for patients with rare and undiagnosed disorders, and is focused on pursuing questions at the interface between genetics and human disease with the goal of developing novel therapies and treatments.

Dr. Tanaka received her PhD from Yale University School of Medicine, where she was a Howard Hughes Medical Institute Medical Research Scholar and recipient of the George Robert Pfeiffer Fellowship for Translational Medicine. She completed her clinical fellowship in cytogenetics and clinical molecular genetics at Columbia University and New York Presbyterian Hospital, and is currently associate clinical laboratory director at Rady Children's Hospital Institute for Genomic Medicine in San Diego, California.

Becky Upham, MA

Becky Upham

Author

Becky Upham has worked throughout the health and wellness world for over 25 years. She's been a race director, a team recruiter for the Leukemia and Lymphoma Society, a salesperson for a major pharmaceutical company, a blogger for Moogfest, a communications manager for Mission Health, a fitness instructor, and a health coach.

Upham majored in English at the University of North Carolina and has a master's in English writing from Hollins University.

Upham enjoys teaching cycling classes, running, reading fiction, and making playlists.