CDG awareness has expanded greatly since it was first medically recognized in the 1980’s, creating opportunities for earlier and more accurate diagnosis and for proper categorization of the existing CDG subtypes. CDG is being diagnosed more quickly in the UK now that there is increased awareness of it in the medical community. There are also a number of clinical guidelines available which should help the medical community in making a diagnosis.
There are various ways in which signs and symptoms of CDG first present to parents and clinicians: through pregnancy scans, through problems at birth, through the health visitor’s visit, or through a General Practitioner (GP). The more severe the effects of the CDG, the more quickly signs and symptoms are noticed.
The diagnosis of CDG should be considered in any child with unexplained (and often profound) developmental delay, failure to thrive, stroke-like symptoms, seizures and cerebellar dysfunction. CDG affects most organ systems to varying degrees, so children will often display abnormalities in liver enzymes, digestion and absorption, glandular function (i.e. thyroid), blood clotting, and immunologic function (infectious susceptibility).
Initial concerns will be escalated to a paediatrician (children’s doctor) at a local hospital, who will then take a detailed patient history, and conduct a thorough clinical evaluation. A diagnosis of CDG may then be suspected based on the patient’s characteristics (doctors call this the patient’s ‘presentation’). Some of the signs and symptoms of CDG are listed below.