Muscular dystrophy (MD) is a group of complex diseases that cause progressive muscle weakness and loss of muscle mass. Although many people think of muscular dystrophy as a condition that primarily affects mobility, it can impact many different organs and systems in the body, including the heart, lungs, digestive system, and even the bones.
The so-called point person, or muscular dystrophy specialist, on your healthcare team is often a neurologist. These doctors will help guide you to determine if and when you need to see certain specialists or therapists, as this can vary greatly from person to person, simply because there are many types of muscular dystrophy, and each individual’s disease course is different.
Some muscular dystrophy clinics or programs have a care coordinator or care manager who works closely with the person with muscular dystrophy and their family to ensure that all of the healthcare providers are on the same page regarding the person’s needs and treatment. This is especially important for individuals with complex disorders, who require a team of 10 or more specialists.
Here’s an overview of many of the doctors who treat different aspects of muscular dystrophy and who may need to be a part of a person’s care team.
Bone health specialist “Bone health is very important, because many people with muscular dystrophies are at risk for falling,” says Lauren Elman, MD, the director of the Muscular Dystrophy Association Clinic at the University of Pennsylvania in Philadelphia.
Bone health can be especially important in people with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy; these individuals are at a higher risk of osteoporosis for a combination of reasons, including increased muscle weakness, lower vitamin D levels, and therapeutic steroid use, according to a review published in Current Opinion in Neurology in October 2018.
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 Cleveland Clinic, in Ohio, 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; it’s recommended that people with Duchenne and Becker muscular dystrophies begin to have cardiac evaluations as soon as they are diagnosed with muscular dystrophy, according to the American Academy of Pediatrics.
Dietitian A registered dietitian nutritionist 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 Dr. 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.
Gastroenterologist Some types of muscular dystrophy, including Duchenne and Becker muscular dystrophy, 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 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, according to research published in the journal PLoS One in October 2016.
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 who can direct the patient to the proper resources according to the type of muscular dystrophy the individual has. The geneticist can also help with diagnosing other members of the family pre-symptomatically 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) and 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, a primary care doctor, or a pain management doctor, according to Elman.
Orthopedist or orthopedic surgeon These doctors specialize in the bones and 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. Although bracing and exercise can sometimes be helpful, 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), yet make sure 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 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, according to the Muscular Dystrophy Association.
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 heathcare team, because sometimes respiratory complications are 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, according to the Muscular Dystrophy Association.
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 the 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, which can lead to dehydration, malnutrition, and weight loss, according to the advocacy organization Parent Project Muscular Dystrophy.
Where to Find Muscular Dystrophy Specialists
Both the Muscular Dystrophy Association and Parent Project Muscular Dystrophy 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.