What is Pompe disease?
Pompe disease is a rare neuromuscular disorder caused by the buildup of a complex sugar called glycogen. The accumulation of glycogen in organs and tissues impairs their ability to function normally and causes progressive muscle weakness.
Pompe disease is caused by genetic mutations. The first symptoms of Pompe disease can occur at any age from birth to late adulthood. Earlier onset of Pompe disease compared to later onset may be associated with more rapid progression and greater severity.
There are three types of Pompe disease, including:
- Classic infantile-onset
- Non-classic infantile-onset
Pompe Disease Symptoms
The symptoms of Pompe disease vary depending on the age when the disease first appears. The disease is always progressive, meaning its symptoms worsen over time. Because different mutations cause Pompe disease, the severity of the symptoms depend on the exact type of mutation.
The first signs of Pompe disease in infants include:
- Breathing problems
- Difficulty swallowing
- Enlarged liver
- Extreme muscle weakness
- Failure to meet developmental milestones such as rolling over and sitting up
- Heart problems, such as enlarged heart
- Inability to hold head up or move normally
Children and adults may experience a greater variety of early symptoms, including:
- Abnormal spine curvature
- Breathing problems
- Difficulties with mobility, such as raising arms, walking, and climbing stairs
- Slow, progressive muscle weakness, especially in the legs and trunk
Pompe Disease Treatments
No cure exists for Pompe disease, and the disease is always progressive. However, diet therapy and enzyme replacement therapy may reduce its effects. Some patients may be helped by liver transplantation.
How common is Pompe disease?
Pompe disease is a rare disorder, affecting just one in 40,000 people in the U.S. The incidence of Pompe disease varies within different ethnic groups.
Who gets Pompe disease?
Pompe disease can affect people of all ages. A person develops Pompe disease when he or she inherits one mutated copy of the acid alpha-glucosidase (GAA) gene from each parent. Because each parent only has one copy of the mutated gene, they never show signs or symptoms of the disease. In the field of genetics, this is known as an autosomal recessive trait.
How is Pompe disease diagnosed?
Pompe disease is hard to identify because many of its symptoms are shared with other diseases, such as multiple sclerosis and muscular dystrophy. A conclusive way to confirm a diagnosis of Pompe disease is by measuring the activity of the GAA enzyme in the blood.
Additional Support + Resources
Genetics Home Reference
National Organization for Rare Disorders