Pompe disease is a rare genetic disease. Due to the pathological change of chromosomes, patients lack a special enzyme so excess glycogen cannot be broken down and muscle function is gradually damaged. It is estimated that about one in 40,000 newborn infants has this disease worldwide, and more than 10 people have this disease in Hong Kong. Pompe disease rarely occurs, but there is still the possibility of being affected. If the public understand more about Pompe disease, the patients can be treated earlier.
Pompe disease occurs at birth but its symptoms may not present immediately. Patients with Pompe disease can be divided into the infantile-onset type and late-onset type by onset age. The infantile-onset type is more severe. Such patients will be affected within 12 months after birth with symptoms of muscle weakness, cardiac hypertrophy and abnormal respiratory systems. The late-onset patients are mainly young and middle-aged people. Patients experiencing an episode will have muscle weakness, especially in proximal muscles like lower limbs, waist and neck. These have more apparent symptoms, thus possibly leading to dysphagia and even worse complications like heart failure and lung function decline.
For diagnosis of Pompe disease, adults can be examined by blood test. Then they can be examined with electromyography or receive minimally invasive surgery to collect skin tissue for diagnostic assistance.
Generally, the treatment for Pompe disease requires a multi-disciplinary team involving a neurologist, respiratory specialist, cardiologist, dietitians, physiotherapists and other specialists. In addition, applicable patients can be treated with enzyme replacement therapy. Regular injection with enzymes can slow disease progression.
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