Living with Congenital disorder of glycosylation type 1E
A rare genetic condition with developmental delay, low muscle tone, seizures, small head size and eye problems.
Understanding Congenital disorder of glycosylation type 1E
It causes global developmental delay, delayed motor skills, low muscle tone, seizures, a small head and eye differences such as retinopathy, shaky eye movements and eyes that do not line up. Onset and severity vary. Nerve damage, balance problems and severe digestive involvement may also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Low muscle tone (floppy infant)
- Seizures
- Small head size (microcephaly)
- Slow weight gain
- Delayed brain myelination
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 DPM1 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 DPM1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type ie; cdg ie; cdg syndrome type ie; cdg-ie; cdg1e; cdgie
Patient organizations
- CDG CARECongenital disorder of glycosylation type 1E · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital disorder of glycosylation type 1E.
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