Living with COG4-congenital disorder of glycosylation
An extremely rare condition, reported in one person so far, with seizures, low muscle tone, and developmental differences.
Understanding COG4-congenital disorder of glycosylation
In the single reported case so far, features included seizures, some facial differences, low muscle tone in the trunk, slightly increased tone in the limbs, and brisk reflexes. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Seizures with fever
- Small head size (microcephaly)
- Absent speech
- Poor coordination (ataxia)
- Enlarged liver and spleen
- Feeding difficulties and slow weight gain
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in COG4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CDG CARE and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: CDG CARE, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CDG CARE and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the COG4 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type 2j; carbohydrate deficient glycoprotein syndrome type iij; cdg iij; cdg syndrome type iij; cdg-iij; cdg2j
Patient organizations
- CDG CARECOG4-congenital disorder of glycosylation · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with COG4-congenital disorder of glycosylation.
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