Living with Autism spectrum disorder - epilepsy - arthrogryposis syndrome
A rare genetic condition with autism, seizures, stiff finger joints, low muscle tone, and developmental delay.
Understanding Autism spectrum disorder - epilepsy - arthrogryposis syndrome
It is a congenital disorder of N-linked glycosylation. Features include stiff, bent finger joints, a small lower jaw set back, low muscle tone, and delayed development. Autism features include speech delay and repetitive behaviors. Seizures, a small head, and mild to moderate intellectual disability that becomes clearer with age also occur. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Autism spectrum behaviors
- Mild intellectual disability
- Knee dislocation
- Seizures
- Hip dislocation or dysplasia
- Hammertoes
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 bone and joint specialists, brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in SLC35A3 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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: 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 Organization for Autism Research 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 says changes in the SLC35A3 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: arthrogryposis, impaired intellectual development, and seizures; autism spectrum disorder-epilepsy-arthrogryposis syndrome; slc35a3-cdg
Patient organizations
- Organization for Autism ResearchAutism spectrum disorder - epilepsy - arthrogryposis syndrome · United States
- Epilepsy FoundationEpilepsy · United States
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