What Is Late-Onset Pompe Disease?

Late-onset Pompe disease can appear anytime from early childhood through adulthood. It tends to progress more slowly than the infantile-onset form. Symptoms and severity can vary widely from one person to another. For many patients, muscle weakness may be the first sign of the disease.

Major Symptoms

The chart below describes the major symptoms. Major breathing problems, such as respiratory failure, can shorten the life span of individuals with late-onset Pompe disease, but many are able to adapt to the challenges that the disease presents and continue with their lives.

Move your cursor over the figure below to view important signs and symptoms of Pompe disease.

Major symptoms of late-onset Pompe disease

Muscles

Progressive muscle weakness in the legs and hips

Poor muscle tone

Difficulty climbing stairs, running, or getting up from a chair

Walking with swaying hips or a waddle

Frequent trips and falls (loss of balance)

Gradual loss of motor milestones that have been achieved, such as walking, running, or jumping (children)

Lower back pain

Scoliosis (curvature of the spine)

Decreased deep tendon reflexes

Lungs

Difficulty breathing, especially after exertion or when lying on back

Morning headaches, daytime sleepiness, shortness of breath and other signs of respiratory insufficiency

Frequent respiratory infections, such as bronchitis and pneumonia

Sleep apnea (the temporary stoppage of breathing during sleep)

Digestive (GI) Tract

Difficulty gaining or maintaining weight

Swallowing and chewing problems

Early Signs

In many cases, patients may first have difficulty walking or climbing stairs because of muscle weakness. These symptoms are similar to many forms of muscular dystrophy.

In other cases, patients may first notice respiratory symptoms such as sleep apnea (the temporary stoppage of breathing during sleep), morning headaches, and daytime drowsiness before they notice muscle weakness in the legs. As muscles that support the lungs weaken, patients may find that they are too short of breath to exercise and must sit upright to breathe better.

Patients may also walk in an unsteady way and, occasionally, walk on their toes. Rarely patients will have heart disease.

Patients may have abnormal curvatures of the spine (called lordosis and/or scoliosis) because of weakening skeletal muscles. These curvatures may require surgery, which may not always be successful because of weakness of the surrounding muscles. Like the infantile-onset form, muscle tone and breathing problems get worse over time.

Disease Course

Generally, late-onset patients whose symptoms appear earlier in life will have a more severe disease course (how the disease develops over time). Patients whose symptoms start later in life may develop symptoms more slowly and have a less predictable disease course.

Some patients with less severe symptoms have only minor disability for years. Others may eventually need mechanical ventilation to help them breathe and canes, walkers, or wheelchairs to help them get around.

Most patients, regardless of the age of diagnosis, will have shortened lifespans because of breathing problems that get worse over time. Life expectancy (how long patients will live) is hard to define. Some patients can live for years or even decades.

Patients are encouraged to work closely with health care providers to find supportive therapies that can help to manage symptoms and maximize quality of life.