Living with DPAGT1-congenital disorder of glycosylation
An inherited condition with low muscle tone, hard-to-control seizures, delayed development, and a small head.
Understanding DPAGT1-congenital disorder of glycosylation
People with this condition have low muscle tone, seizures that are hard to control, delayed development, and a small head. Babies may move very little before birth. Other features can include breathing pauses or trouble breathing, cataracts, tight joints, feeding difficulties, and distinct facial features. Signs begin between birth and childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Low muscle tone in infants (floppy infant)
- Delays in development
- Intellectual disability
- Cataracts present at birth
- 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 DPAGT1 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
GARD says changes in the DPAGT1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type ij; cdg ij; cdg syndrome type ij; cdg-ij; cdg1j; cdgij
Patient organizations
- CDG CAREDPAGT1-congenital disorder of glycosylation · United States
- CDG & Allies - PPAINDPAGT1-congenital disorder of glycosylation · Epilepsy Foundation
You are more than your diagnosis
Perspectives from people navigating life with DPAGT1-congenital disorder of glycosylation.
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