Pompe Disease

Pompe disease (also known as glycogen storage type II disease) is an inherited autosomal recessive disorder. Due to a deficiency of the lysosomal enzyme, acid alpha-glucosidase, there is a build-up of glycogen in certain organs and tissues, especially the muscles. This leads to symptoms such as, difficulty performing physical activities, trouble chewing and swallowing and an inability to rise from a seated position. Left untreated, Pompe disease can result in irreversible muscle damage and permanent confinement to a wheelchair.

The prevalence of Late Onset Pompe disease is roughly 1 in 40,000 but due to its slow progressive nature it often takes many years to diagnose or goes undiagnosed entirely.

Use this checklist to prompt a discussion with your physician.

DOWNLOAD SYMPTOM CHECKLIST

A dry blood spot test and/or genetic testing can help early detection of Pompe disease

Possible Symptoms of Pompe Disease

Musculoskeletal

Is it difficult to maintain proper posture? Does your head hang forward while you stand or sit?

Are you feeling less flexible than you used to?

Do you experience lower back pain?

Facial

Have you noticed any changes in your appearance when you look in the mirror?

Is it getting harder for you to swallow, chew food, or talk?

Neurological

Have you noticed changes in your hearing?

Do you feel lightheaded when you stand after sitting?

Respiratory

Do you wake up with headaches?

Do you have periods where you feel it is harder to breathe?

Has someone noticed you are having trouble breathing while you sleep?

Muscle Symptoms

Are you having trouble getting out of a chair or rising when you are lying down? Is it hard to climb stairs?

Have you noticed unusual muscle cramps, soreness, or pain?

Has there been a change in the way you walk? Do you notice your hips swaying or do you walk with a waddle?