Living with Deficiency of ferroxidase
A genetic condition in which iron slowly builds up in the brain and other organs, causing movement problems in adults.
Understanding Deficiency of ferroxidase
Neurological problems generally appear in adulthood and worsen over time. They include movement problems, poor coordination, and in some people psychiatric changes and a decline in thinking skills in their forties or fifties. People may also have diabetes caused by iron damage in the pancreas.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle tensing that twists the body (dystonia)
- Jerking movements (chorea)
- Poor coordination (ataxia)
- Difficulty speaking clearly
- Diabetes
- Problems with thinking
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 blood and bone marrow specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in CP 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
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); 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
Changes in the CP gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acep; aceruloplasminaemia; aceruloplasminemia; ceruloplasmin deficiency; deficiency of ceruloplasmin; familial apoceruloplasmin deficiency
Patient organizations
- NBIA Disorders AssociationDeficiency of ferroxidase · United States
- NBIAcureDeficiency of ferroxidase · United States
You are more than your diagnosis
Perspectives from people navigating life with Deficiency of ferroxidase.
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