Question

A 6-month-old baby cannot lift their head, cannot roll over, and has normal appetite. There are no significant abnormalities in general, but the baby sometimes trembles. What should be considered for sequential mass spectrometry disease screening?

Answer

Your situation falls under the category of autoimmune connective tissue disease, which is difficult to treat. There is currently no effective treatment regimen available, and it generally involves the use of corticosteroids. Consideration can be given to corticosteroid pulse therapy, but it is important to master the indications and methods. We know that inborn errors of metabolism in children can cause significant harm. If not treated promptly or if the treatment method is incorrect, the progression can be rapid, posing great harm to children. Therefore, it is crucial to seek timely and regular treatment at professional hospitals.