What tests should glycogen storage disease type II do?
summary
The incidence rate incidence rate of Chinese glycogen storage disease type II is about 1/4 million. The incidence of subtypes is different from each other: the incidence rate of infantile type among African Americans and Chinese is significantly higher than that of other countries. The incidence rate of adult type is higher in Dutch. According to the age of onset, the main organs involved and the severity of the disease, the disease can be divided into three types: infant type, infant type and adult type? Next, I'd like to share my views with you.
What tests should glycogen storage disease type II do?
EMG: show the characteristics of myopathy. Electronic instruments were used to record the electrical activity of muscle at rest or contraction, and electrical stimulation was used to check the excitation and conduction function of nerve and muscle. The English abbreviation is EMG. The functional status of peripheral nerve, neuron, neuromuscular junction and muscle itself can be determined by this examination;
Blood examination: the activities of serum creatine kinase, glutamic oxaloacetic transaminase and lactate dehydrogenase increased; Muscle biopsy showed increased glycogen storage and acid phosphatase (indicating increased lysosomal enzyme compensation). The diagnosis should be based on the enzyme detection of muscle biopsy tissue or cultured fibroblasts;
The enzyme detection of amniotic fluid cells or chorionic villi can be used for prenatal diagnosis of infantile type of this disease. Chest X-ray examination: the heart showed spherical enlargement. ECG: significant left axis deviation, high QRS wave, shortened P-R interval, decreased ST segment and inverted T wave.
matters needing attention
The treatment of genetic diseases is difficult and the curative effect is not satisfactory, so prevention is more important. Preventive measures include avoiding consanguineous marriage, carrying out genetic counseling, carrier gene testing, prenatal diagnosis and selective abortion to prevent the birth of children.
