Pompe disease

Introduction Pompe's disease is a rare and serious genetic disease that can be found in children or adults. Although the age of the attack is not the same as the severity of the symptoms, most patients develop progressive muscle weakness and difficulty breathing. Moreover, babies with this disease develop heart problems due to weakened heart muscles. The name of Pompe disease is derived from the Dutch physician JC Pompe (pom-PAY in the United States, POM-puh in Europe), the first physician to describe a baby with this disease in 1932. Pompe disease is both a metabolic muscle disease and a lysosomal storage disease (LSD). Pompe's disease, like more than 40 other muscle diseases (such as muscle dystrophy), can cause muscle atrophy. Pompe's disease, like all corpuscle corpuscles, affects the ability to break down complex molecules in small bodies. The cause of the disease is due to the presence of the 17th chromosome, which results in the lack of acid α-glucosidase, which cannot decompose glycogen. The glycogen that cannot be decomposed will accumulate in the lysosome, causing muscle weakness, heart enlargement and other causes. Symptoms Infant type: about 6 months of onset, often died before 1 year old 1. Severe muscle weakness 2. Tongue hypertrophy 3. Cardiac hypertrophy 4. Liver hypertrophy 5. Difficulty breathing 6. Unable to reach the development target as expected Hairstyle: about 20 to 60 years old 1. Gradually muscle weakness, especially the trunk and lower limbs 2. Feeling tired when exercising 3. Shortness of breath 4. Sleep apnea or intermittent sleep 5. Morning headache 6 Daytime sleepiness 7. Scoliosis 8. Lower back pain diagnosis Pompe disease can be easily identified in infants because the symptoms are more pronounced and the urgency of the condition is often obvious. In many cases, a chest X-ray shows significant cardiac hypertrophy, and the physician will perform further tests on this serious problem. Other abnormal symptoms found by the physician or parent (eg, dyspnea or motor function development) will provide doubts about Pompe's disease. For older patients, many of the symptoms of Pompe's disease are similar to many common diseases, and not at the same time. These challenges make the road to correct diagnosis very tortuous. In addition, many physicians have never seen patients with Pompe disease. For these reasons, physicians often need to rule out other causes before they begin to consider diseases that are rare such as Pompe disease. The initial respiratory symptoms of the patient can occur in many diseases. Some patients have muscle weakness and shortness of breath. Common misdiagnosis includes limb-type or Duchenne muscular dystrophy (limb-girdle or Duchenne muscular dystrophy). Treatment with polymyositis (an inflammatory muscle disorder) enzyme replacement therapy (ERT) has been approved by the FDA for the treatment of Pompe disease. The GAA enzyme lacking in the patient is regularly injected into the blood, and the current health insurance can be paid according to the law. Physicians may use several different support therapies depending on the individual's symptoms. Diet therapy Because of eating difficulties, many patients find it difficult to maintain normal weight. To solve this problem, many doctors will prescribe a special high-protein, low-carbohydrate diet that has been proven to be benefit. For some cases, the patient's diet should also be supplemented with amino acids (the basic framework of the protein). However, dietary therapy does not produce consistent results. The 1997 study found that only 25% of patients with Pompe's disease had improved respiratory or skeletal muscle function using a high-protein diet. Patients who are unable to maintain normal weight may also need to be fed with a feeding tube to confirm that they have adequate daily intake of calories; they are also suitable for those who have difficulty breathing, cannot swallow properly, or use a respirator. The patient. The feeding tube can be temporarily fed by the nasal passages or fed through the stomach for long-term use. In general, feeding tube feeding is common in infants because of their severe muscle weakness. Patients and their families should ask their physician or dietitian to determine the appropriate calorie intake. Calorie intake varies with age, height, and health. Respiratory therapy supports the severe debilitation of the muscles of the lungs, making physicians view breathing therapy as an important part of disease treatment. Many patients with Pompe's disease need to use a respirator in order to reduce the amount of breathing work, or in emergency situations with respiratory failure. The respirator is a pump that delivers warm, humid air to the lungs at different pressures. Some cases only need to be used at night in the beginning, however, as the disease worsens, the patient will increase the need for respirators during the day. There are several different types of respirators, and their models are suitable for both the patient's needs and the ability to breathe spontaneously. Patients who are able to inhale themselves may be more suitable for breathing apparatus that can match the patient's breathing pattern; however, other patients may need a computer equipped with a respirator that can be pre-set with a breathing cycle to operate automatically. Prevention and prevention of infection is a very important part of caring for patients with Pompeii. Most patients have some degree of ventilatory deficiencies, and they are very susceptible to lung (pneumonia). Therefore, any infection must be treated immediately before it deteriorates to a critical level. Once the infection begins to worsen, in addition to controlling the symptoms, respiratory assistance is often needed to help the patient slow down the lung function damage that may occur during this period.