Pompe Disease have identified by Swiss Pathologist Doctor Johannes Cassianus Pompe in year 1932. In this disease glycogen will accumulate inside the lysosome due to acid-alpha glucosidase enzyme deficiency. This disease is an autosomal recessive inherited disorder that is seen in 1 of 40,000 people. If there is no gene transfer from both parents due to autosomal recessive inheritance, the disease will not occur in children.
Glycogen will stored in muscle cells and it is a kind of sugar. In this disease glycogen cannot broken down. For this reason, fatigue and weakness will start. With it, it causes muscle weakness that worsens over time and often leads to respiratory problems. If the too much glycogen accumulates in the muscle cells, the muscles will damaged and will not function properly. The first symptom is usually the weakness of the legs and hips, and this usually leads to wobbling. These patients will have muscle pains and will fall down frequently also. In some patients, cardiomegaly and hepatomegaly have reported. Respiratory tract infection, sleep apnea, and contractures in the muscles are common.
Infantile type disease will occur in the first 6 months of life and progresses rapidly and results in death. Patients usually die before the age of 2 years.
Adult type Pompe Disease average lifespan is 55 years of age. About %50 of this patients may need wheelchair or respiratory support. If these patients going not die due to respiratory insufficiency, they may live like other healthy people.