Pompe disease is a rare genetic disease. It has two forms. In the early form, associated with infancy, the diagnosis is usually made fairly quickly, because the disease has a very turbulent course. In the late form, it initially manifests with many unrelated symptoms, such as muscle pain, breathing problems, headaches and insomnia. Over time, these symptoms worsen, sometimes becoming life-threatening. The late form occurs in the largest group of patients.
- What should raise suspicion of the disease are abnormalities in the laboratory test. The enzyme in question is creatine kinase. Its level is elevated, even before symptoms appear. Added to this are symptoms related to weakness of the leg muscles in particular. Walking up stairs or standing up from a squatting position is difficult. It's also the early onset of respiratory failure, shortness of breath, to which patients adapt relatively well for a long time. However, there can be dramatic symptoms, for example, with a theoretically harmless upper respiratory tract infection," says Professor A...
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