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Symptoms and courseGlycogenosis type II, is otherwise known as Pompe's disease. It is a rare genetic disease (lysosomal storage diseases) and is inherited in an autosomal recessive manner. It was described in 1932 by Joannes Pompe. There are three forms of the disease: childhood, adolescent and adult-only. There is also a division according to the time of onset of the disease, i.e. early (infantile) and late (juvenile) onset. In this disease, the human body is unable to break down glycogen and it therefore accumulates in the heart muscle and skeletal muscles. It can also accumulate in other organs. This leads to their gradual atrophy and eventually death. Pompe disease requires specialised treatment and the patient remains under medical care at all times.
Symptoms and course Pompe Disease
Causes and symptoms of Pompe disease
The cause of the development of Pompe disease is the complete absence or deficiency of one of the enzymes responsible for breaking down glycogen to - alpha-1,4-glucosidase (so-called GAA - acid maltase). This is led by a mutation of the gene that is responsible for the production of this enzyme. For the disease to manifest itself, the child must each receive a copy of the defective gene from the mother and father.
The very early-onset form of Popme's disease manifests itself in the first months of life. The most common symptoms include weakness of muscle strength (flaccidity), breathing problems (apnoea in children), problems chewing and swallowing food, very frequent respiratory infections, an enlarged tongue and impaired physical development. Symptoms of the disease can appear both in the first year of life and after the age of 40. They depend on the degree of enzyme activity.
Once diagnosed, the patient remains under the care of a number of specialists including a pulmonologist, neurologist, cardiologist and psychiatrist.
