Understanding Pompe Disease: Causes, Symptoms, and Treatment Options

Pompe disease is a rare genetic disorder affecting muscle function due to a deficiency in the enzyme GAA. This condition leads to dangerous glycogen accumulation, causing progressive muscle weakness and respiratory issues. Symptoms vary by age, with infantile cases being particularly severe. Enzyme replacement therapy offers hope for treatment, significantly improving patient outcomes when started early. Awareness and early diagnosis are crucial for effective management. Discover more about this condition, its causes, symptoms, and treatment options in our detailed overview.

By Narendra Chaudhary Feb 28, 2026, 10:25 IST

Overview of Pompe Disease

Pompe disease is a rare genetic condition impacting approximately one in 40,000 individuals globally. Known medically as glycogen storage disease type II, this inherited disorder arises primarily from a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is crucial for the breakdown of glycogen, a stored sugar, and its absence leads to harmful glycogen accumulation in muscle cells. Over time, this build-up can severely damage muscle tissue, resulting in progressive weakness and, in severe cases, respiratory failure. Despite its serious implications, Pompe disease is often overlooked due to its subtle symptoms that can mimic other conditions. Dr. Aradhana Chauhan, a neurologist at Sahyadri Super Speciality Hospital, explains that the lack of GAA prevents proper glycogen metabolism, leading to muscle cell death and progressive damage.

Causes of Pompe Disease

Understanding the Genetic Basis

Pompe disease is classified as an autosomal recessive disorder, meaning that an individual must inherit two defective copies of the GAA gene—one from each parent—to develop the disease. The GAA enzyme is essential for breaking down glycogen within lysosomes, the recycling centers of cells. When GAA is deficient or absent, glycogen builds up in muscle cells, particularly affecting:

Skeletal muscles
Respiratory muscles
The heart muscle, especially in infantile cases

This accumulation gradually damages muscle fibers, leading to a decline in physical function.

Signs and Symptoms of Pompe Disease

Identifying the Symptoms

The symptoms of Pompe disease can differ based on the age at which it manifests. There are two main forms: infantile and late-onset. Common symptoms across both types include:

An enlarged heart, known as cardiomyopathy
Muscle weakness or floppy baby syndrome
Feeding difficulties
Breathing issues

If left untreated, infantile-onset Pompe disease can be life-threatening within the first year of life.

Treatment Options: Enzyme Replacement Therapy

Advancements in Treatment

A significant advancement in treating Pompe disease is enzyme replacement therapy (ERT). This therapy provides a synthetic version of the missing GAA enzyme, which helps to reduce glycogen accumulation in muscle cells. Research indicates that initiating ERT early—before irreversible muscle damage occurs—can greatly enhance survival rates, motor function, and respiratory health. Although ERT is not a cure, it can slow disease progression and improve the quality of life for patients. Dr. Chauhan emphasizes the importance of early diagnosis, as starting ERT promptly can lead to much better outcomes compared to those who begin treatment after significant muscle damage has already taken place. Increased awareness among healthcare professionals and the public is essential for recognizing Pompe disease as a potential diagnosis in cases of unexplained, progressive muscle weakness, with or without accompanying symptoms like fatigue or breathing difficulties.