CDG

Reports from the MHC data base

Report from the Observation Chart (PDF)

Synonyms

  • Congenital Disorder of Glycosylation
  • previously termed Carbohydrate Deficient Glycoprotein

Codes

ICD-10: E77.8
ORPHA: 137

Estimated occurrence

1:50 000 – 70 000 live births

Etiology

CDG1A 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 symptoms

CDG 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 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.

Orofacial/odontological symptoms

Eating 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.

Orofacial/odontological treatment

  • It is important that these children receive dental preventive treatment, with extra prophylactic care 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.

Sources

  • The rare disease database of the Swedish National Board of Health and Welfare.
  • The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
  • The Documentation from the Ågrenska national competence centre for rare diseases.
Updated: 2017-09-12 13:41