CDG Disease: To everyone who has joined us here at CDG, hello! It’s possible you or a loved one just discovered that they have cystic fibrosis and gout. It’s possible that you provide emotional support to a family dealing with CDG. You might be a medical expert caring for someone with CDG. Nobody is immune to CDG’s perplexing nature. We sincerely hope this website clarifies CDG for you. If you learn more about CDG, you’ll be more equipped to love and care for someone who has it.
What Is CDG Disease?
Congenital glycan disorders are abbreviated as CDG. Common glycosylation disorders (CDG) are a vast set of uncommon hereditary disorders of sugar metabolism.
Defining Glycosylation: Proteins can be glycosylated when sugar building blocks (also called glycans) are attached. There is no correlation between glycans and either blood sugar or diabetes, even though they are composed of several sugars. The inability to effectively incorporate sugar-building components into proteins poses serious health risks for those with CDGs. The wide range of symptoms experienced by those with CDG is because glycosylation is essential for the proper functioning of every cell in the body.
What Is The History Of CDG Disease?
CDGs were first discovered by scientists in the 1980s and have just recently been made public knowledge. Since CDG is uncommon, medical professionals have little expertise in treating it. Few doctors have direct experience with CDGs.
Could my loved one have CDG Disease?
We here at CDG CARE feel strongly that anyone who is undiagnosed and experiencing symptoms affecting many bodily systems or a single health concern that cannot be explained should have CDG evaluated as a possible diagnosis. Despite the unique nature of CDGs, we suspect that many individuals are going undetected or are receiving incorrect diagnoses.
Patients with CDG frequently receive incorrect diagnoses due to the similarity of their symptoms to those of other conditions. At first, a diagnosis of cerebral palsy or another hereditary disease is possible. More than 400 glycosylation-related genes have been identified in the human genome.
It is estimated that only about 170 of these genes cause CDG. Thanks to the tireless work of doctors, scientists, and concerned parents, each year brings the discovery of yet another CDG. To help people figure out if they have CDG, some doctors and scientists focus on this condition and are willing to evaluate them.
As there are likely many more CDG subtypes to discover, the exact number of CDG sufferers is still a mystery. An increased suspicion of CDG should be prompted by the presence of several symptoms that cannot be explained by other causes. When children exhibit the following symptoms, doctors should investigate CDG.
How Can You Be Sure It Is CDG Disease?
To accurately diagnose CDG, genetic testing is the gold standard. It will also be used to identify the CDG type. Blood tests for missing sugar building blocks (carbohydrate-deficient transferrin, CDT, or transferrin IEF) can help diagnose certain kinds of CDG; however, in some cases, these tests can be expected in CDG.
What Can I Expect In The Future For My Child With CDG?
Each child diagnosed with CDG is one of a kind. Persons with CDG are known to be quite likable and outgoing. Scientists and doctors have yet to determine why CDG symptoms vary in severity within the same CDG type and why they might differ from person to person, even among brothers.
Symptoms of each CDG subtype may range in severity. Every CDG kid has specific requirements. Most children with CDG will need a team of professional doctors. These are identified by their distinct health concerns. As medical needs and priorities shift over time, the specialists we rely on may also alter.
They will need more frequent doctor appointments than ordinary youngsters. Serious health issues can arise in some CDG-affected youngsters. These can be life-threatening. These may necessitate frequent or lengthy hospital admissions. Child life-threatening incidents tend to decrease with age.
An international movement is trying to get #WorldCDGDay officially recognised by #WHO 🌍
Will you help us get there?❗️❕ #CDGAwareness
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— World CDG Organization (@worldCDG) May 5, 2020
Although many children with CDG require hospitalization, some never end up there. Several hospitalizations may be necessary for some, even within the first year. Disabilities are common among people with CDG. Treatments like physiotherapy, OT, and PT can help with them. These treatments are frequently required for the rest of one’s life.
In most cases, there is currently no known method of treatment or cure for CDG. While CDG does have some severe health issues, many of them are manageable with proper care. Patients with CDG are already offered health screenings and medical care for any problems they may have. Preventive medicine, including healthy eating and regular vaccinations, can lessen the need for emergency medical care.
Specialists in medicine and science are investigating and developing new, targeted therapies for CDG. CDG CARE supports these research efforts. CDG CARE is working hard to ensure that CDG patients and their families have a brighter future.
What Treatments Are Available For CDG?
If you are a doctor caring for a CDG patient and have questions, concerns, or require urgent consultation with a CDG doctor, please contact CDG CARE at firstname.lastname@example.org.
In addition, you can email email@example.com if you need access to scholarly articles about extremely uncommon CDG Types that aren’t featured here.