Pompe disease progression: How does the disease change over time?

Last updated March 14, 2025, by Agata Boxe
Fact-checked by Inês Martins, PhD

While symptoms of Pompe disease worsen over time, the exact progression of the disease depends on its type and severity.

Pompe disease is a rare condition that causes severe muscle weakness. It can also cause fatigue, breathing problems, and cardiovascular issues.

Understanding how Pompe disease symptoms change and guide treatment decisions can help you build a supportive, knowledgeable medical care team. Your doctors and other experts can create a treatment plan that helps manage symptoms and reduce the disease’s impact on your quality of life. They will also suggest adjustments as the disease progresses.

How Pompe type affects progression

The speed of Pompe disease progression and the severity of symptoms largely depend on the type of Pompe disease you have.

There are three forms of Pompe disease, each with a different trajectory:

• classic infantile-onset Pompe disease
• nonclassic infantile-onset Pompe disease
• late-onset Pompe disease.

In general, earlier-onset forms of Pompe disease that develop during infancy tend to be more severe than the late-onset form. They also tend to progress more rapidly.

Classic infantile-onset Pompe disease

Symptoms of classic infantile-onset Pompe disease usually begin in the first few months after birth. Early signs of Pompe include muscle weakness and poor muscle tone, which can make a baby’s body seem limp.

Within the first weeks, babies with Pompe tend to develop heart muscle disease, known as cardiomyopathy. Respiratory problems and difficulty gaining weight are also common.

Nonclassic infantile-onset Pompe disease

Babies with nonclassic infantile-onset Pompe disease have symptoms such as muscle weakness that develop within their first year of life. They will also experience delayed motor development, and have trouble rolling over or sitting up, for example.

Symptoms of this form of Pompe usually appear later and progress more slowly than in the classic type. Unlike babies with the classic form, those with nonclassic infantile-onset Pompe do not usually develop cardiomyopathy within the first year of life. Because of this difference, nonclassic infantile-onset Pompe disease is considered by some experts to be a subtype of the late-onset form.

Late-onset Pompe disease

In late-onset Pompe disease (LOPD), symptoms develop at any point after the first year of life. Some people may first experience symptoms later in childhood or adolescence, while others won’t have symptoms until they are adults, which is why this type is also known as adult-onset Pompe disease.

The main LOPD symptom is worsening muscle weakness, especially in the legs and the trunk. Weakness in chest muscles may also affect breathing, causing respiratory problems.

LOPD is less severe and its symptoms progress at a slower rate than in the infantile-onset forms. It is also less likely to affect the heart.

Symptom changes over time

In all three types of Pompe disease, symptoms tend to worsen over time. A younger age at onset is usually linked to more severe disease and faster progression.

In babies with classic infantile-onset Pompe disease, symptoms worsen rapidly. As the initial muscle weakness progresses, it causes delays in motor skills such as rolling over and difficulty moving the legs and arms. If not treated, this form of the disease leads to death from heart and respiratory failure before age 2.

Nonclassic infantile-onset Pompe disease involves delayed milestones related to mobility, such as rolling over, sitting, crawling, and walking. As the disease progresses, muscle weakness eventually leads to serious breathing problems. Without treatment, most children who have this form of Pompe live only into early childhood.

In LOPD, symptoms begin as gradual muscle weakness, especially in the legs and the trunk, which can make it difficult to walk and climb stairs. As LOPD progresses, muscle weakness can impair mobility and cause chronic fatigue and issues with eating, speaking, and breathing. The disease can eventually lead to respiratory failure — when there is not enough oxygen in the blood. This is an emergency situation that may require treatment with ventilation.

Changes in treatment

While Pompe disease is primarily treated with medications, supportive therapies such as physical and speech therapy may be recommended to help preserve the ability to move, breathe, and talk.

The main type of Pompe disease treatment is enzyme replacement therapy (ERT), which replaces the acid alpha-glucosidase enzyme that is either missing or not working correctly in people with the disease.

As your symptoms change, other kinds of therapy can be added to your treatment plan.

• Physical therapy can help maintain your muscle strength and ability to move through a safe, tailored exercise program.
• Occupational therapy can teach you how to do daily tasks such as eating, bathing, and getting dressed with limited mobility and dexterity.
• Respiratory support such as ventilation and breathing exercises can help you manage breathing problems as part of your LOPD treatment.
• Speech therapy can help you with speech difficulties caused by facial muscle weakness and breathing issues.

You can also work with a nutritionist or registered dietician as part of LOPD management to help you design a realistic diet that supports your health.

Adaptive equipment and assistive technology such as canes, scooters, and speech-generating devices can help you maintain independence for as long as possible.

Impact on quality of life

Symptom progression in Pompe disease can impact your day-to-day living, by limiting movement and independence. The awareness of living with a chronic illness that can progress to cause disabling symptoms can take a toll on your mental health.

Progressive muscle weakness can restrict your mobility to the point that you require assistance from others. As daily activities become more challenging, you may need help from caregivers and assistive devices.

You can help maintain your strength and abilities for as long as possible by getting early ERT for Pompe disease and routinely seeing physical and occupational therapists and consulting other specialists who provide supportive care.

The worsening of symptoms can also affect your emotional well-being. Consulting a therapist — ideally one who has treated people with chronic conditions — can help you manage the challenges of living with a rare disease. Ask your doctor for recommendations.

Joining a support group can help you connect with others who understand the challenges of living with Pompe disease. In addition, Pompe Disease News and its Facebook group are good places to find information, advice, and camaraderie.

Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.