The CDG disorders are a group of newly discovered metabolic diseases called Congenital Disorders of Glycosylation.
CDG disorders cause abnormal tissue and organ development affecting the entire body, especially the function of the central and peripheral nervous system.
Congenital Disorders of Glycosylation is a recessively inherited disease, meaning that a child with CDG has inherited two non-working genes, one from each parent. Currently, there are just 500 cases identified in the world.
Signs and Symptoms of Congenital Disorders of Glycosylation (CDG)
The symptoms and severity of CDG vary from child to child. Some of the symptoms become more prominent at different ages. Early signs include:
- Low muscle tone
- Failure to thrive (slow growth)
- Feeding difficulties
- Developmental delay
- Liver disease
- Bleeding tendencies
- Crossed eyes
- Cerebellar hypoplasia (changes in the area of the brain responsible for balance)
How are Congenital Disorders of Glycosylation Diagnosed?
Most Congenital Disorders of Glycosylation patients can be diagnosed by a simple blood test. Once CDG is diagnosed, further testing is required to determine the type of CDG. Currently, scientists have identified 20 different types of CDG.
Prognosis for Congenital Disorders of Glycosylation
Some children with Congenital Disorders of Glycosylation have serious, life-threatening medical problems during infancy. Individuals with CDG require expert medical care, often from multiple specialists.
Children and adults with CDG have varying degrees of disability, including cognitive impairment, speech difficulties, and poor balance and motor skills. However, many are conversational, with speech impairment, and have very charming personalities. Most use wheelchairs or walkers for mobility. Some live at home, while others are in assisted-living settings.
Although there is no current treatment for children with Congenital Disorders of Glycosylation, early physical, speech, and occupational therapies are important for them so that they can develop to their fullest potential.
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