Living with ALG12-congenital disorder of glycosylation
An inherited condition starting in infancy with feeding trouble, slow growth, developmental delay, and low muscle tone.
Understanding ALG12-congenital disorder of glycosylation
Signs usually start in infancy, including feeding problems and slow weight gain. Many people have intellectual disability, delayed development, and weak muscle tone, and some have seizures. Some have a small head and unusual facial features. Some males have a small penis or undescended testes. Many make low levels of antibodies. It is also known as congenital disorder of glycosylation type Ig.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble feeding
- Poor weight gain (failure to thrive)
- Delayed speech and language
- Delayed motor skills
- Blood clotting problems
- Ongoing runny nose (chronic rhinitis)
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 ALG12 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 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
Changes in the ALG12 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: alg12-cdg; carbohydrate deficient glycoprotein syndrome type ig; cdg ig; cdg syndrome type ig; cdg-ig; cdg1g
Patient organizations
- CDG CAREALG12-congenital disorder of glycosylation · United States
- CDG & Allies - PPAINALG12-congenital disorder of glycosylation
You are more than your diagnosis
Perspectives from people navigating life with ALG12-congenital disorder of glycosylation.
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