Living with Familial infantile bilateral striatal necrosis
A rare inherited brain condition in infancy that affects movement and development, with loss of skills.
Understanding Familial infantile bilateral striatal necrosis
It starts in the newborn or infant years. Parts of the brain called the caudate nucleus, putamen and globus pallidus degenerate on both sides. This can lead to loss of developmental skills and movement problems that may progress to stiff, spastic arms and legs.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of developmental milestones
- Twisting, writhing movements (choreoathetosis)
- Muscle stiffness or spasms (dystonia, spasticity)
- Poor coordination and trouble walking (ataxia)
- Delayed or unclear speech
- Floppy muscle tone in infancy
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.
- 3Consider genetic testing
Changes in NUP62 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 the NUP62 gene cause it. It can be inherited in an autosomal dominant or autosomal recessive way.
Also known as: bilateral striatal necrosis, infantile; familial ibsn; familial ibsn (infantile bilateral striatal necrosis); familial infantile striatonigral degeneration; familial infantile striatonigral necrosis; fbsn
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 Familial infantile bilateral striatal necrosis.
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