There is a long list of rare neuromuscular diseases. Nonetheless, there are a few that you are likely to see in the ED, that are relevant to Emergency Medicine because they require timely diagnosis and treatment.
EM Cases: Neuromuscular Disease for Emergency Medicine Read More »
A 3-month-old female is brought into your ED by her mother for constipation and decreased PO intake for 3 days. She was born full term without complications and is breastfed along with some soft foods. When asking about changes in diet, her mother states they only eat organic and grow most of their own food on their farm. They also can some food to prevent spoiling. Vital signs are unremarkable. It takes longer than expected for her to open her eyes, and she appears to have head lag. She will not feed while in the ED despite multiple attempts. What is the diagnosis?
