Living with RFT1-congenital disorder of glycosylation
A rare inherited metabolic condition starting in infancy that affects feeding, muscle tone, development, seizures, and hearing.
Understanding RFT1-congenital disorder of glycosylation
Babies may have poorly coordinated sucking, trouble feeding, and poor weight gain. Other features include low muscle tone, jerking movements that can progress to seizures, roving eyes, developmental delay, and hearing loss. Blood clotting differences and a small head size may also be seen. It begins in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Low muscle tone (hypotonia)
- Seizures
- Feeding trouble and poor weight gain
- Hearing and vision impairment
- Bleeding or clotting problems
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, digestive system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in RFT1 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); Digestive system specialists (gastroenterologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- 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
It is caused by changes in the RFT1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type in; cdg in; cdg syndrome type in; cdg-in; cdg1n; congenital disorder of glycosylation type 1n
Patient organizations
- CDG CARERFT1-congenital disorder of glycosylation · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with RFT1-congenital disorder of glycosylation.
Explore research for RFT1-congenital disorder of glycosylation
Explore actively recruiting RFT1-congenital disorder of glycosylation studies with HealthSpark.
Find actively recruiting studies for RFT1-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 RFT1-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 RFT1-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 RFT1-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.