Department of Medicine by the Institute of Neurology reveals “Pompey’s disease”, a hereditary disease caused by an enzyme deficiency. found at birth necessary for early diagnosis
Dr. Somsak Ankasilp, MD. Director-General of the Medical Department Ministry of Public Health (MOPH) revealed that Pompe disease is classified as a metabolic genetic disease. Inherited with recessive traits The enzyme that breaks down a polymer called glycogen causes the accumulation of glycogen in the lysosome, which leads 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 percent, the patient develops symptoms as an infant. with enlarged heart, enlarged liver, muscle weakness and often die in the first year In 1-40 percent 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, MD. Director of the Institute of Neurology added that Weakness seen in adults with Pompe disease. Patients have weakness in the muscles of the upper arms and thighs. Patients may come to the doctor with difficulty walking up 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 paraspinal muscles following scoliosis.
Patients with severe symptoms may experience fatigue, especially when lying down due to weakening of the breathing muscles. 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, this will improve the patient’s condition, but the treatment is still very expensive. to make enzymes that the body can not replace
