Living with Sporadic infantile bilateral striatal necrosis
A rare brain condition in infants that affects movement, with loss of skills, stiffness, and twisting movements.
Understanding Sporadic infantile bilateral striatal necrosis
It involves damage to both sides of deep brain areas that help control movement. Children can lose skills they had gained. They may develop twisting or writhing movements and muscle stiffness (dystonia) that can progress to stiffness in all four limbs. GARD lists onset as any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of developmental skills
- Abnormal movements and postures
- Trouble speaking clearly
- Trouble swallowing
- Seizures
- Low muscle tone in the trunk
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 genes (variants) cause this condition. GARD doesn't list which gene or how it is inherited.
Also known as: absn; acute bilateral striatal necrosis; sporadic ibsn; sporadic infantile striatonigral degeneration; sporadic infantile striatonigral necrosis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Sporadic infantile bilateral striatal necrosis.
Explore research for Sporadic infantile bilateral striatal necrosis
Explore actively recruiting Sporadic infantile bilateral striatal necrosis studies with HealthSpark.
Find actively recruiting studies for Sporadic infantile bilateral striatal necrosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Sporadic infantile bilateral striatal necrosis studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Sporadic infantile bilateral striatal necrosis
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Sporadic infantile bilateral striatal necrosis experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.