The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Chorea | Very frequent (present in 80%-99% of cases) |
| Spastic diplegia | Very frequent (present in 80%-99% of cases) |
| Bradykinesia | Frequent (present in 30%-79% of cases) |
| Dysphonia | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Gait disturbance | Frequent (present in 30%-79% of cases) |
| Optic atrophy | Frequent (present in 30%-79% of cases) |
| Orofacial dyskinesia | Frequent (present in 30%-79% of cases) |
| Retinal degeneration | Frequent (present in 30%-79% of cases) |
| Abnormality of eye movement | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Behavioral abnormality | Occasional (present in 5%-29% of cases) |
| Constipation | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Occasional (present in 5%-29% of cases) |
|
| Occasional (present in 5%-29% of cases) |
|
| Hypotension | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Language impairment | Occasional (present in 5%-29% of cases) |
| Parkinsonism | Occasional (present in 5%-29% of cases) |
| Anarthria | - |
| - | |
| Babinski sign | - |
| Blepharospasm | - |
| Cavitation of the basal ganglia | - |
| Choreoathetosis | - |
| Decreased serum ferritin | - |
| Disinhibition | - |
| - | |
| Emotional lability | - |
| Hyperreflexia | - |
| Laryngeal dystonia | - |
| Mutism | - |
| Neurodegeneration | - |
| Phenotypic variability | - |
| Progressive | - |
| Rigidity | - |
| - | |
| Tremor | - |
| Writer's cramp | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
NBIA Disorders Association Announces Research Grants for Neurodegeneration with Brain Iron Accumulation (NBIA)
February 19, 2015
Brain, Blood and Iron: Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation
Friday, October 1, 2010 -
Saturday, October 2, 2010
Location: Doubletree Hotel,,
Bethesda,
Maryland
Description: The overall objectives of this workshop were to (1) define neuroacanthocytosis (NA) and neurodegeneration with brain iron accumulation (NBIA) research priorities; (2) determine resources that are needed in order to foster research; (3) stimulate interest in research into NA and NBIA among scientists in related fields; (4) generate collaborations between those working in related disciplines, with particular relevance to NA and NBIA; and (5) attract early career investigators to these fields.
Contact: Dr. Danilo A. Tagle(301) 496-5745tagled@mninds.nih.gov
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
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Third Genome Dynamics in the Neurosciences Conference Sunday, July 18, 2010 -
Thursday, July 22, 2010
Location: The Hilton Metropole,
Brighton,
England
Description: The goal of this meeting was to integrate basic processes of DNA damage signaling and repair and clinical aspects of neurological and neurodegenerative disease. The program was designed to bring together leading scientists with primary interests in DNA damage signaling with those working in specific related neurodegenerative disease areas as a means for integrating these fields. It was anticipated that this would generate insights into how normal processes of genome maintenance in the brain contribute to the prevention of a wide range of diseases.
Contact: Dr. Danilo A. Tagle, NINDS(301) 496-5745tagled@mninds.nih.gov
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
The following diseases are related to Neuroferritinopathy. If you have a question about any of these diseases, you can contact GARD.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I was recently diagnosed with neuroferritinopathy. Should I be avoiding foods that are high in iron such as liver, black pudding, cabbage and broccoli? See answer
