Living with ALG3-congenital disorder of glycosylation
A rare inherited condition with serious nervous system effects, including low muscle tone, delays, and a small head.
Understanding ALG3-congenital disorder of glycosylation
It involves low muscle tone, developmental delay, intellectual disability, a head that grows slowly after birth, and brain and cerebellum shrinkage over time. Seizures are frequently reported. Some people also have poor weight gain, stiff joints from birth, vision problems, and distinct facial features. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD's summary says they include:
- Low muscle tone (hypotonia)
- Developmental delay
- Intellectual disability
- Small head size (microcephaly)
- Seizures
- Poor weight gain (failure to thrive)
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 ALG3 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 ALG3 gene cause this condition, in a way that stops the gene from working (loss of function). A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: alg3 congenital disorder of glycosylation; alg3-cdg; alg3-cdg - asparagine-linked glycosylation 3 congenital disorder of glycosylation; alg3-cdg (cdg-id); asparagine-linked glycosylation 3 congenital disorder of glycosylation; carbohydrate deficient glycoprotein syndrome type id
Patient organizations
- CDG CAREALG3-congenital disorder of glycosylation · United States
- CDG & Allies - PPAINALG3-congenital disorder of glycosylation · Epilepsy Foundation
You are more than your diagnosis
Perspectives from people navigating life with ALG3-congenital disorder of glycosylation.
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