Living with Christianson syndrome
A genetic condition of the nervous system that shows up in infancy, with delayed development, seizures, and trouble with balance and speech.
Understanding Christianson syndrome
Features include delayed development, intellectual disability, not being able to speak, poor balance and coordination (ataxia), and trouble standing or walking. People who learn to walk lose the ability in childhood. Most children have seizures starting between ages 1 and 2. Many have a happy demeanor with frequent smiling and laughter.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Absent speech
- Delayed motor skills
- Seizures
- Small head size (microcephaly)
- Feeding difficulties and drooling
- Happy, smiling manner
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, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in SLC9A6 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
National Ataxia Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: National Ataxia Foundation, 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 Simons Searchlight 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 SLC9A6 gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: intellectual developmental disorder, x-linked syndromic, christianson type; intellectual developmental disorder, x-linked, syndromic, christianson type; intellectual disability, microcephaly, epilepsy, and ataxia syndrome; intellectual disability, x-linked syndromic, christianson type; mrxsch; slc9a6-related syndromic mental retardation
Patient organizations
- Simons SearchlightChristianson syndrome · United States
- Christianson Syndrome AssociationChristianson syndrome · United States
- National Ataxia FoundationAtaxia · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Christianson syndrome.
Explore research for Christianson syndrome
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- Recruiting studies from ClinicalTrials.gov
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