OVERVIEW: What every practitioner needs to know Are you sure your patient has a neuromuscular disease? What are the typical findings for this disease? Neuromuscular disorders in children comprise a broad group of diseases, which can affect skeletal muscle, the neuromuscular junction, the peripheral nerve and/or the anterior horn cells. The clinical presentation of skeletal…
OVERVIEW: What every practitioner needs to know Are you sure your patient has a disorder of glycosylation? What are the typical findings for this disease? Congenital disorders of glycosylation (CDG), formerly called carbohydrate-deficient glycoprotein syndrome, are a rapidly expanding family of multisystem genetic diseases caused by defects in the biosynthesis of the glycan moiety of…
