A number of specialists help treat Pompe disease and its symptoms

Cardiologist: Children with infantile-onset Pompe disease often have heart-related issues that need to be treated by a pediatric cardiologist. If adults with late-onset Pompe disease have symptoms, such as an irregular heartbeat (arrhythmia), they may see a heart doctor to treat and monitor their condition.

Endocrinologist/metabolic disease specialist: Doctors who specialize in treating diseases that disrupt the body’s metabolism may take a central role in providing care, depending on the medical center or a person’s individual needs.

Gastroenterologist: Feeding and digestive concerns, such as heartburn or difficulty swallowing, can develop as symptoms become more challenging. A gastroenterologist may do tests to take a closer look at specific problems. Some people with more serious difficulties may need to have a feeding tube placed in their body to make sure they’re getting enough nutrition.

Geneticist: Doctors who are experts in the way genes affect the body can work with children or adults to diagnose and may treat conditions related to how the body moves and uses energy. These doctors may play a bigger role in coordinating care with the larger team of specialists, therapists, and counselors.

Neuromuscular specialist (adult or pediatric): A neuromuscular specialist is an expert who treats symptoms that are related to the way in which nerves affect muscle strength and movement. The neuromuscular specialist may be the main coordinator of care for some adults and children with Pompe disease. They keep track of overall well-being, which may include how well a person moves, how strong they are, and whether they’re in pain. A neuromuscular specialist can also decide if a person would benefit from certain tools or equipment, like a brace or a wheelchair.

Orthopedist: Weak muscles can affect the way people with Pompe disease move, as well as their overall posture. An orthopedist diagnoses and treats bone and joint problems that can be common in Pompe disease, such as scoliosis (S- or C-shaped curve in the spine), contractures (hardening of muscles and tendons that connect muscles to bones), and osteoporosis (bone weakness).

Primary care provider (PCP): Even after they’re diagnosed, people with late-onset Pompe disease may continue to see their main doctor, such as a pediatrician, family practitioner, or internal medicine doctor. The PCP is responsible for preventive care, which can include routine vaccinations to prevent lung infections and tracking multiple medications.

Psychologist/psychiatrist: Living with a chronic (long-term) illness is stressful and can lead to worry and sadness. Many of these emotional problems can be treated by a psychologist who offers guidance and support. In more serious cases, someone may see a psychiatrist, who can prescribe medications.

Pulmonologist: Weak chest muscles can cause a number of breathing problems, including shortness of breath, not being able to cough, or trouble breathing while sleeping. A pulmonologist can help diagnose, monitor, and treat these problems. They can also keep a close eye on any lung infections that may develop to make sure they’re treated right away. Sometimes, a pulmonologist will refer patients to a respiratory (breathing) therapist to help with ongoing symptoms.

Urologist: Children and adults may experience problems that affect the urinary tract, such as having difficulty emptying the bladder or maintaining bladder control. Urologists may help diagnose and manage urinary tract problems associated with Pompe disease.