Living with ALG6-congenital disorder of glycosylation 1C
An inherited condition affecting many body parts, starting in infancy with slow weight gain, low muscle tone, and developmental delay.
Understanding ALG6-congenital disorder of glycosylation 1C
Signs vary widely and usually start in infancy. Babies may have trouble gaining weight and have weak muscle tone and developmental delay. Some have seizures, balance problems, or stroke-like episodes with extreme tiredness and temporary paralysis. Blood clotting problems can occur. Some have eye problems, including crossed eyes and retinitis pigmentosa. It is also known as congenital disorder of glycosylation type Ic.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor weight gain (failure to thrive)
- Trouble feeding
- Low muscle tone (hypotonia)
- Delayed development
- Seizures
- Trouble with balance and coordination (ataxia)
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ALG6 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); 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 ALG6 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: alg6 congenital disorder of glycosylation; alg6-cdg; alg6-cdg (cdg-ic); alg6-cdg1c; carbohydrate deficient glycoprotein syndrome type 1c; carbohydrate deficient glycoprotein syndrome type ic
Patient organizations
- CDG CAREALG6-congenital disorder of glycosylation 1C · United States
- CDG & Allies - PPAINALG6-congenital disorder of glycosylation 1C · Epilepsy Foundation
You are more than your diagnosis
Perspectives from people navigating life with ALG6-congenital disorder of glycosylation 1C.
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