Living with SLC35A2-congenital disorder of glycosylation
An inherited condition that affects the brain and other organs, with early seizures and severe developmental delay.
Understanding SLC35A2-congenital disorder of glycosylation
Signs usually start early in infancy. Seizures begin in the first months, often infantile spasms, and may not respond to seizure medicines. People often have brain dysfunction, low muscle tone with poor head control, unusual facial features and skeletal differences. Severe intellectual disability and delayed development are common, and many never develop meaningful speech. Feeding difficulty and slow weight gain, and vision or hearing problems, may occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures, often infantile spasms
- Severe intellectual disability
- Low muscle tone (floppy infant)
- Small head (microcephaly)
- Feeding difficulties
- Poor weight gain
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 SLC35A2 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 lists changes in the SLC35A2 gene. The condition is X-linked, meaning the gene is on the X chromosome.
Also known as: cdg iim; cdg syndrome type iim; cdg-iim; cdg2m; cdg2m - congenital disorder of glycosylation type 2m; congenital disorder of glycosylation type 2m
Patient organizations
- CDG CARESLC35A2-congenital disorder of glycosylation · United States
- CDG & Allies - PPAINSLC35A2-congenital disorder of glycosylation · Epilepsy Foundation
You are more than your diagnosis
Perspectives from people navigating life with SLC35A2-congenital disorder of glycosylation.
Explore research for SLC35A2-congenital disorder of glycosylation
Explore actively recruiting SLC35A2-congenital disorder of glycosylation studies with HealthSpark.
Find actively recruiting studies for SLC35A2-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 SLC35A2-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 SLC35A2-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 SLC35A2-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.