Living with ALG9 congenital disorder of glycosylation
A rare inherited condition with a slowly shrinking head size, low muscle tone, delays, and hard-to-treat seizures in infancy.
Understanding ALG9 congenital disorder of glycosylation
It involves a head that grows more slowly over time, low muscle tone, developmental delay, infant seizures that don't respond well to medicine, and an enlarged liver. Some people also have poor weight gain, fluid around the heart, kidney cysts, bone differences, and distinct facial features. It starts during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size that gets smaller over time (progressive microcephaly)
- Low muscle tone (hypotonia)
- Delayed development
- Intellectual disability
- Enlarged liver
- Fluid around the heart
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 ALG9 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 ALG9 gene cause this condition, in a way that stops the gene from working (loss of function). A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: alg9-cdg; alg9-cdg - asparagine-linked glycosylation 9 congenital disorder of glycosylation; alg9-cdg (cdg-il); alg9-congenital disorder of glycosylation; asparagine-linked glycosylation 9 congenital disorder of glycosylation; carbohydrate deficient glycoprotein syndrome type 1l
Patient organizations
- CDG CAREALG9 congenital disorder of glycosylation · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with ALG9 congenital disorder of glycosylation.
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