Living with ALG1-congenital disorder of glycosylation
An inherited condition starting in infancy that can affect several body systems, with developmental delay, seizures, and low muscle tone.
Understanding ALG1-congenital disorder of glycosylation
Signs usually start in infancy. Many people have intellectual disability, delayed development, and weak muscle tone. Many have seizures that can be hard to treat. Blood clotting problems and low levels of antibodies, especially IgG, can make infections harder to fight. It is also known as congenital disorder of glycosylation type Ik.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Seizures
- Low muscle tone (hypotonia)
- Blood clotting problems
- Crossed eyes (strabismus)
- Ongoing diarrhea
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 ALG1 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 ALG1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: alg1 congenital disorder of glycosylation; alg1-cdg; alg1-cdg - asparagine-linked glycosylation 1 congenital disorder of glycosylation; alg1-cdg (cdg-ik); asparagine-linked glycosylation 1 congenital disorder of glycosylation; carbohydrate deficient glycoprotein syndrome type ik
Patient organizations
- CDG CAREALG1-congenital disorder of glycosylation · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with ALG1-congenital disorder of glycosylation.
Explore research for ALG1-congenital disorder of glycosylation
Explore actively recruiting ALG1-congenital disorder of glycosylation studies with HealthSpark.
Find actively recruiting studies for ALG1-congenital disorder of glycosylation with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting ALG1-congenital disorder of glycosylation studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for ALG1-congenital disorder of glycosylation
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your ALG1-congenital disorder of glycosylation experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.