Get to know “Pompey’s disease”, the doctor pointed out that it is a hereditary disease. The body lacks the enzyme degrading “glycogen” until the accumulation. cause cell death The less the enzyme, the more symptoms will occur from infancy. If the enzyme is not much will find muscle weakness treated with enzyme replacement
On March 4, Dr. Somsak Ankasil, Director-General of the Medical Department, said that Pompe disease is classified as a metabolic genetic disorder. This causes a deficiency of an enzyme that breaks down the polymer “glycogen”, causing the accumulation of glycogen in the lysosomes. lead to cell death The disease is found in approximately 1 in 40,000 people. Patient symptoms depend on the amount of enzymes the body can make. In cases where the enzyme is less than 1%, the patient develops symptoms from infancy. with enlarged heart, enlarged liver, muscle weakness and often die in the first year In 1-40% of patients with enzymes, the predominant symptoms were muscle weakness and often found in older age or may be found in adulthood
Dr. Thanin Wetchapinan, director of the Institute of Neurology, said the weakness seen in adults with Pompey’s disease. There will be weakness in the muscles of the upper arms and thighs. Patients may come to the doctor with difficulty walking up the stairs. difficult to sit and get up Raise your arms to comb your hair or pick up things that are placed on high ground. There may be weakness in the muscles next to the spine following scoliosis. Patients with severe symptoms may be tired, especially when lying down due to weakening of the muscles used for breathing. In cases where the doctor suspects that the patient may be Pompey’s disease The patient will undergo additional tests such as CK (Creatine kinase) levels in the blood, nerve conduction and muscle wave. Blood enzyme test by dropping a drop of blood on a filter paper. and confirmed the disease by genetic testing Currently treating Pompey’s disease patients. By giving enzyme replacement intravenously every 2 weeks, which will help patients have better symptoms. But the treatment is still very expensive, it is important to know quickly. to make enzymes that the body can not replace
