Congenital muscle weakness syndrome

Introduction What are the symptoms of myasthenia gravis syndrome? 1. Myasthenia gravis (1) It is estimated that only 12% to 20% of the live babies born to MG mothers have reduced muscle tone, low crying, and sucking power. Weak muscle is weak; the rest of the baby's blood AchR-Ab can be increased, but does not show muscle weakness. (2) About 78% of newborn MGs have muscle weakness and electrophysiological manifestations within a few hours to one day, and blood AchR-Ab can be increased. Since the sick child itself does not produce AchR-Ab, the muscle weakness gradually decreases until it disappears. After 18 days and rarely more than 2 months, the AchR-Ab in the blood gradually decreased and no longer relapsed. (3) The phenomenon of intrauterine fetal movement reduction during MG mother's pregnancy is rare. If the fetal muscle weakness is severe, the fetus is inactive in the uterus for a long time, and the joint is bent after birth. This condition may also occur after the mother produces it. 2. Congenital myasthenia gravis syndrome (1) Children with less fetal movement before birth, onset soon after birth or birth, neonatal period showed sag ptosis intermittent or progressive aggravation, medullary muscle weakness, facial muscle weakness, often Affect feeding. The sucking power of breastfeeding is weak, the crying is weak, and the respiratory muscle weakness occurs when crying, which are important clues to the congenital muscle weakness syndrome. There is no obvious progress in the course of the disease. The generalized muscle weakness is either with or without. It is generally not serious. It can start to improve at 6 to 7 years old, but it cannot be completely relieved. (2) Most of the onset in infancy or childhood, continuous exercise can produce muscle weakness, fluctuating eye muscle paralysis and abnormal fatigue, etc. In some cases, until 10 years old or 20 years old, there is obvious muscle weakness and fatigue. . Check that the sputum reflex is normal and there is no muscle atrophy. Patients are prone to respiratory infections, often due to fever, excitement and vomiting, causing potentially fatal muscle weakness, respiratory muscle weakness can lead to decreased ventilation, dyspnea and hypoxic brain damage. With age, the onset of crisis can be gradually reduced. 3. Congenital endplate Ach esterase deficiency This disease occurs in males, and all skeletal muscle weakness and abnormal fatigue are present at birth. Muscle biopsy was normal, and cytochemical examination by light and electron microscopy revealed a lack of Ach esterase. 4. Slow channel syndrome Infants, children or adults with onset, progressive aggravation, can have several years of intermittent. Typical muscle weakness can affect the neck, shoulder and extensor muscles, with mild to moderate ptosis, limited extraocular muscle activity, varying degrees of muscle weakness in the mandible, facial, upper limb, respiratory and trunk muscles. The lower limbs are relatively spared. Muscle atrophy and fatigue are visible in the affected muscle, and the limb reflex is seriously affected. 5. Congenital acetylcholine receptor deficiency often begins in infancy, clinical symptoms and electrophysiological characteristics are similar to myasthenia gravis. Muscle biopsy showed a decrease in the number of AchR and normal cholinesterase. Serum AchR-Ab was negative and no immune complex was seen in the endplate region. 6. Drug-induced myasthenia gravis (1) Drugs and toxins cause myasthenia gravis syndrome onset, the symptoms last for hours to days, patients can recover completely without respiratory failure, eye muscles, facial muscles, bulbar muscles and Limb muscles can be affected. The history of medication, the history of exposure to poisons, and the history of poisoning can provide an important basis for clinical diagnosis. (2) Chronic graft ver sus host disease may occur in long-term (2 to 3 years) survivors after allogeneic bone marrow transplantation. Typical myasthenia gravis is a local manifestation. (3) Myasthenia gravis caused by interferon-α: Batocchi et al (1995) reported autoimmune myasthenia gravis during treatment of interferon-α (IFN-α) in 2 patients with malignant tumors; Piccolo et al. (1996) reported One patient with chronic hepatitis C developed MG after treatment with IFN-α; Mase et al (1996) reported that a patient with hepatitis C who was susceptible to MG genetic quality developed severe MG during IFN-α2a treatment. Diagnosis can be made based on clinical manifestations of different clinical types and related laboratories and other ancillary examinations. See clinical performance and related laboratory tests, auxiliary examinations.