Living with ITM2B amyloidosis
A rare inherited brain disease in adults that causes worsening memory and thinking and balance problems.
Understanding ITM2B amyloidosis
It involves protein deposits (amyloid) in the brain and its blood vessels. It starts in adulthood. There are two subtypes, ABri amyloidosis and ADan amyloidosis.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dementia
- Progressive problems with balance and coordination (ataxia)
- Stiffness and weakness in the arms and legs (spastic tetraparesis)
- Hearing loss
- Clouding of the lens (cataract)
- Amyloid in brain blood vessels
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 autoimmune and inflammatory disease specialists, 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.
- 4Connect with expert centers
Amyloidosis Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Amyloidosis 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 Amyloidosis Foundation
- 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 genes (also called variants) cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: familial cerebral amyloid angiopathy; itm2b-related amyloidosis; itm2b-related cerebral amyloid angiopathy
Patient organizations
- Amyloidosis FoundationITM2B amyloidosis · United States
You are more than your diagnosis
Perspectives from people navigating life with ITM2B amyloidosis.
Explore research for ITM2B amyloidosis
Explore actively recruiting ITM2B amyloidosis studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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