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Disease Profile
Neurodegeneration with brain iron accumulation
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Adult
ICD-10
G23.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
NBIA
Summary
Neurodegeneration with brain iron accumulation (NBIA) is a group of
There are ten recognized types of NBIA, classified according to the altered
There is no cure for NBIA.[2][3] Treatment is symptomatic, and includes medication such as baclofen, trihexyphenidyl, botulinum toxin, and a procedure known as deep brain stimulation to treat dystonia.[1] Levodopa and anticholinergic drugs may also bring some relief of parkinsonian symptoms.[3]
The NBIA Disorders Association has detailed information about NBIA.
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
0001332 | ||
Iron accumulation in brain | 0012675 | |
30%-79% of people have these symptoms | ||
Abnormality of extrapyramidal motor function | 0002071 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Chorea | 0002072 | |
Difficulty articulating speech
|
0001260 | |
Optic atrophy | 0000648 | |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
Rigidity |
Muscle rigidity
|
0002063 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 |
Organizations
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.
Organizations Supporting this Disease
-
NBIA Disorders Association
2082 Monaco Ct.
El Cajon, CA 92019-4235
Telephone: +1-619-588-2315
Fax: +1-619-588-4093
E-mail: [email protected]
Website: https://www.nbiadisorders.org/
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
Learn more
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.
Where to Start
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Neurodegeneration with brain iron accumulation. Click on the link to view a sample search on this topic.
References
- Hayflick GAS. Neurodegeneration with Brain Iron Accumulation Disorders Overview. GeneReviews. February 28, 2013; https://www.ncbi.nlm.nih.gov/books/NBK121988/.
- Neurodegeneration with Brain Iron Accumulation Disorders. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Neurodegeneration-Brain-Iron-Accumulation-Information-Page.
- Jankovic J. Bradykinetic movement disorders in children. UpToDate. August 12, 2015; https://www.uptodate.com/contents/bradykinetic-movement-disorders-in-children.