What is CDG?
Congenital Disorders of Glycosylation (CDG) is the name of a group of extremely rare and complex genetic, metabolic diseases, which affects all parts of the body including the brain
There are up to 50 different subtypes and many more subtypes are being identified by further research. There are several similarities between patients with CDG, but these can differ among subtypes or even can be different for two patients with the same sub type. Some people are very mildly affected whereas others are severely affected with frequent hospitalisations. The types of symptoms associated with each subtype can be found.
Diagnosing CDG
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.
Signs & Symptoms of CDG
The symptoms and severity of CDG vary from child to child. Some of the symptoms become more prominent at different ages. Most types of CDG are associated with minor differences in facial and body features, neurological problems, slow growth, clotting problems, liver and/or intestinal problems. Some CDG children have significant medical problems during infancy
Find out more about the signs and symptoms of CDG.
Living with CDG
We have produced a series of leaflets that provide information for newly diagnosed families.
As parents of children with CDG, we can support each other by sharing our experiences, both with the medical system in the UK and simply in caring for our children as best we can.
Here are some resources we have compiled thanks to our community of families:
Join Our Community
Register with our charity and join our patient database today to take advantage of the benefits such as:
-
Eligibility to apply for our family grant
-
Being the first to hear about the latest CDG news, including our family days, ‘Meet the CDG Experts’ events, new clinical trials, the latest in CDG research and more!
-
Receive a new member pack including a free CDG-UK pen.
The purpose of this form is:
-
To collect information on the increasing number of CDG patients in the UK
-
To assist with CDG UK’s communication with patients, their families and their doctors
-
Using the information to make contact with medical professionals who are not fully aware of CDG so we can spread awareness
-
To ensure that when medical professionals are providing new families with the diagnosis, they can also provide up to date information about CDG and how to find support from charities such as ourselves.
The more information we have about all the families and patients living with CDG in the UK, the more we can support our community by providing tailored educational support, wellbeing support, new information about research and development etc.
All information provided will be kept secure and in line with GDPR. No information will be shared with third parties, including doctors or researchers, without your prior consent in writing.
The length of time needed to fill in the form is approximately 8 minutes.
Thank you for your support
Team CDG UK
