Living with Neuroferritinopathy
An inherited condition in which iron slowly builds up in the brain, causing movement problems that start around age 40.
Understanding Neuroferritinopathy
People have movement problems that slowly worsen, starting at about age 40. These can include jerking movements (chorea), shaking (tremor), poor coordination (ataxia), and muscle tightening (dystonia). Symptoms may be more noticeable on one side. Swallowing and speech can be affected. Intelligence is unaffected in most people, but some develop a gradual decline in thinking.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Jerking movements (chorea)
- Muscle tightening (dystonia)
- Changes in walking
- Slurred speech (dysarthria)
- Voice problems (dysphonia)
- Mood and emotion changes
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 FTL 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 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
GARD lists changes in the FTL gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: adult basal ganglia disease; adult onset basal ganglia disease; basal ganglia disease, adult-onset; ferritin related neurodegeneration; ferritin-related neurodegeneration; hereditary ferritinopathy
Patient organizations
- NBIA Disorders AssociationNeuroferritinopathy · United States
- NBIAcureNeuroferritinopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Neuroferritinopathy.
Explore research for Neuroferritinopathy
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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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