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CDG Syndrome

CDG Syndrome Causes

The cause for CDG syndrome is not yet fully understood; however, doctors have found that it is associated with the cells' disability to produce a biochemical that plays an important role in the body's transport of protein - a complete chain of glycoproteins.

CDG Syndrome Definition

When your child is born with a disease, knowledge about it will help you and your family cope with and learn how to raise the child as they need to. CDG, or congenital disorders of glycosylation, is a disease that affects the body's metabolic systems. It is also known by the name carbohydrate-deficient glycosylation syndrome. The central and peripheral nervous system are the most affected functions of those who are diagnosed with CDG syndrome.

CDG Syndrome Symptoms and Signs

Symptoms can vary from mild to severe, but a common trait is that all those who have CDG syndrome have problems with coordination and balancing. The symptoms of CDG syndrome vary according to the person's age. During the infant years of 1-3 years old, the syndrome is at its most dangerous phase. Common symptoms are liver dysfunction, retracted nipples, psychomotor development delay, pericardial effusions, lipodystrophic skin, limb joint restriction, and convergent squint. During late infancy and childhood phase, the symptoms include mental retardation and problems with coordination. The child's lower and upper limbs also exhibit motor disability, and they may also develop retinitis pigmentosa. Fever and infection can also trigger fits and epileptic episodes. During this phase, the cerebellar ataxia is also stable. The teenage years bring about slightly milder symptoms, as most major symptoms stabilize at this point. The most evident characteristic during this phase is the skeletal abnormalities, such as pigeon-barreled chests, scoliosis, and atrophy in the legs. During adult years, the cerebellar ataxia stabilizes, as well as the peripheral neuropathy. Mild epilepsy can still occur, and patients tend to have abnormally long extremities. Unfortunately, females do not go through puberty, while the males' development of secondary sexual characteristics take longer than usual.

CDG Syndrome Treatment

The CDG syndrome will require patients to undergo changes in their lifestyle, such as using a wheel chair. Families who live with a patient will need large cars for proper transportation of the wheelchairs. The disease will also affect the child's options for recreation, although handicap activities such as swimming is a good way to get exercise and enjoy at the same time. Those who have the most severe cases might also need hearing aids.

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