Estimated occurrence2:100,000 live births.
CauseCDG1A is caused by mutations (changes) in the PMM2-gene that result in an impaired ability of the cells to synthesize or process glycoproteins. The gene is located on the short arm (p) of chromosome 16 (chromosome 16p13). The disease is inherited autosomal recessively,
General symptomsCDG is a metabolic disorder that affects all parts of the body, but particularly leads to functional disturbances in the central and peripheral nervous systems. Common symptoms include varying degrees of intellectual disability; delayed gross motor development; low muscle tone (hypotonia); impaired balance and physical coordination; muscle weakness, (primarily in the legs); and impaired vision. During infancy, common problems include feeding difficulties, diarrhoea and poor weight gain. Epilepsy is somewhat more common in children with CDG syndrome than in healthy ones. Speech is in most cases extremely impaired, whereas comprehension is quite good. Most will require a wheelchair or rollator. Spinal and thoracic deformities eventually arise. The medical complications stabilize in adolescence.
Congenital Disorder of Glycosylation, previously termed Carbohydrate Deficient Glycoprotein. test
Orofacial/odontological symptomsEating difficulties and frequent vomiting are common, especially during infancy. Impaired oral motor function and low muscle tone can cause speech difficulties, eating difficulties, drooling and occlusal (bite) anomalies.
Advice on follow-up and treatment
- • It is important that individuals with CDG syndrome receive dental preventive treatment, with extra prophylactic care and information on oral hygiene from an early age.
- An orthodontist should be consulted when the child is 7-9 years of age to plan for possible occlusal corrective treatment.
- Training in oral motor skills and extra stimulation in cases of eating disorders, speech difficulties and drooling may be relevant.
- Speech, language and communication training is often necessary.
Updated: 2019-11-12 14:31