Living with Neurodegeneration with brain iron accumulation
A group of inherited nervous system conditions in which iron builds up in the brain, causing movement and thinking problems.
Understanding Neurodegeneration with brain iron accumulation
Symptoms include dystonia (muscle spasms and twisting) that gets worse over time, stiff muscles, Parkinson-like movement problems, poor coordination, confusion, seizures, and eye problems. There are ten recognized types, named by the gene involved. Eight types are autosomal recessive.
Signs & symptoms
GARD lists these symptoms:
- Muscle spasms and twisting (dystonia)
- Muscle stiffness (spasticity)
- Parkinson-like movement problems
- Poor coordination (ataxia)
- Confusion, seizures, or memory loss
- Eye problems (optic atrophy or retinal degeneration)
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 NBIA Disorders Association 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
There are ten types, each linked to a different gene: PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17. Eight types are autosomal recessive, BPAN (WDR45) is X-linked dominant, and neuroferritinopathy (FTL) is autosomal dominant.
Also known as: nbia
Patient organizations
- NBIA Disorders AssociationNeurodegeneration with brain iron accumulation · United States
- NBIAcureNeurodegeneration with brain iron accumulation · United States
You are more than your diagnosis
Perspectives from people navigating life with Neurodegeneration with brain iron accumulation.
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