Living with SSR4-congenital disorder of glycosylation
An X-linked condition affecting the nervous system, with delayed development, seizures, and feeding problems.
Understanding SSR4-congenital disorder of glycosylation
Children have delayed development in language, social skills, and movement, along with intellectual disability. Many have low muscle tone, a small head, and seizures. Feeding problems are common, often from trouble chewing or dislike of some textures. Other features include slow weight gain, reflux or vomiting, crossed eyes, and distinct facial features. Signs may begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Intellectual disability
- Low muscle tone
- Small head (microcephaly)
- Seizures
- Feeding trouble and slow 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 SSR4 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 SSR4 gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: carbohydrate deficient glycoprotein syndrome type iy; cdg iy; cdg syndrome type iy; cdg-iy; cdg1y; congenital disorder of glycosylation type 1y
Patient organizations
- CDG CARESSR4-congenital disorder of glycosylation · United States
- CDG & Allies - PPAINSSR4-congenital disorder of glycosylation · Epilepsy Foundation
You are more than your diagnosis
Perspectives from people navigating life with SSR4-congenital disorder of glycosylation.
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