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Johannes C. Pompe, the doctor from Netherlands, discovered a rare inherited neuromuscular illness. This disease affects people of all ages. Symptoms of muscle weakness can be caused by defective gene and deficiency of an enzyme, acid alpha-glucosidase (GAA). It's absence makes a storing of a substance called glycogen in muscles in the whole body.

Characteristics of the disease

The illness is progressive and inherited. The main cause is the lack of an important enzyme(acid alpha-glucosidase, GAA), which is genetic disorder, and it is the same with all ill people. There are several categories called by different names. The thing that differs is the time of progression of illness. For better understanding of this disorder consult Genzyme. They can also offer printed materials.

Comprehensive CareRegarding the complicated nature of Pompe disease different doctors and specialists take care of people with this illness, because it attacks the whole body (organs, tissues, muscles).

Everything that these people need

They must see many doctors and therapists because they have problems with walking, breathing and other health problems. They need mental and emotional help because of this illness. The tests about the progression of the disease must be regular and important to be successful.

Who takes careAs it is a very rare illness, some doctors do not know much about it. So, the patients themselves must have an active role, they may participate in patients organizations, to ask for the doctors and therapists, who have more experience, or to ask their doctors to consult experts.

The care of patients

As this disease gets worse, and the speed of the progression is not known, it is important to do regular check-ups. Young patients have strong and quick progression, and they must be checked because of heart problems. Older patients should do check-ups every six months. Pompe Registry

The existence of Pompe Registry gives the doctors information about symptoms and experiences so they make their understanding better. They make a schedule of assessments and tests which should be done to help the doctors to treat patients.


The disease can be controlled by medications and appropriate style of life to make symptoms easier, and do the interventions to save muscle degradation.

Enzyme Replacement Therapy (ERT)As the patients have the lack of acid alpha-glucosidase (GAA), Enzyme Replacement Therapy gives the artificial amount of GAA, a lysosomal enzyme.

Managing SymptomsThe muscle weakness may bring many health problems in the whole body. Treating these symptoms in different ways contains very important patient care. This can make a hard life with illness much better, and it should be treated individually.

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