Living with Congenital disorder of glycosylation, type IIq
A rare genetic condition in which a child seems typical at birth, then loses skills in the first year, with small head size and seizures.
Understanding Congenital disorder of glycosylation, type IIq
Babies appear typical at birth. Then, during the first year of life, they show progressive loss of skills, a head that grows slowly, developmental delay, intellectual disability and seizures. Stiffness in all four limbs, liver problems and low copper levels are described. Brain scans may show shrinking and a thin corpus callosum.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of skills over time
- Slow head growth (secondary microcephaly)
- Intellectual disability
- Seizures
- Stiff limbs (spastic tetraplegia)
- Reduced liver function
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 and genetic specialists.
- 3Consider genetic testing
Changes in COG2 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: CDG CARE
- 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
- 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
It is caused by changes in the COG2 gene. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: cdg iiq; cog2-cdg; cog2-cdg - component of oligomeric golgi complex 2 - congenital disorder of glycosylation; cog2-related congenital disorder of glycosylation; component of oligomeric golgi complex 2-related congenital disorder of glycosylation
Patient organizations
- CDG CARECongenital disorder of glycosylation, type IIq · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital disorder of glycosylation, type IIq.
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