Living with ALG11-congenital disorder of glycosylation
A rare inherited condition starting in infancy with low muscle tone, hard-to-control seizures, developmental delay, and feeding problems.
Understanding ALG11-congenital disorder of glycosylation
It involves a small head, a high forehead, crossed eyes, low muscle tone, poor weight gain, seizures that are hard to control, developmental delay, ongoing vomiting, and stomach bleeding. Some people also have unusual fat pads, inverted nipples, and swings in body temperature. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Low muscle tone (floppy infant)
- Delayed development
- Trouble feeding
- Seizures
- Vision and hearing problems
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ALG11 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); 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
Changes in the ALG11 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: alg11-cdg; alg11-cdg - asparagine-linked glycosylation 11 congenital disorder of glycosylation; alg11-cdg (cdg-ip); asparagine-linked glycosylation 11 congenital disorder of glycosylation; carbohydrate deficient glycoprotein syndrome type ip; cdg syndrome type ip
Patient organizations
- CDG CAREALG11-congenital disorder of glycosylation · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with ALG11-congenital disorder of glycosylation.
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