Familial idiopathic basal ganglia calcification
- Bilateral striopallidodentate calcinosis
- Cerebral calcification nonarteriosclerotic idiopathic adult-onset
- Cerebrovascular ferrocalcinosis
- Fahr disease, familial (formerly)
Your QuestionThe father of my children has been diagnosed with Fahr's disease. I am concerned for him and my children. I would like to learn more about this condition and how we might be able to help him.
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Questions on this page
- What is familial idiopathic basal ganglia calcification (FIBGC)?
- What causes familial idiopathic basal ganglia calcification [FIBGC]?
- How is familial idiopathic basal ganglia calcification (FIBGC) diagnosed?
- Is there genetic testing for familial idiopathic basal ganglia calcification even though the causative gene(s) are unknown?
- How can I find a genetics professional in my area?
- How might familial idiopathic basal ganglia calcification (FIBGC) be treated?
- What is the prognosis for familial idiopathic basal ganglia calcification (FIBGC)?
- Are there advocacy organizations and supportive resources available for individuals and families with familial idiopathic basal ganglia calcification?
1) visualization of bilateral (on both sides) calcification of the basal ganglia on neuroimaging
2) presence of progressive neurological dysfunction
3) absence of a metabolic, infectious, toxic, or traumatic cause
4) a family history consistent with autosomal dominant inheritance (a person must inherit one copy of the altered gene from one parent to have the condition).
Rarely, symptomatic individuals in families with FIBGC do not show calcification. Thus, in some instances, the diagnosis can be made in the absence of one (but not both) of the first two criteria, providing the remaining criteria are met.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Sobrido MJ, Coppola G, Oliveira J, Hopfer S, Geschwind DH. Familial Idiopathic Basal Ganglia Calcification. GeneReviews. June 27, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1421/. Accessed 10/18/2013.
- Familial idiopathic basal ganglia calcification. Genetics Home Reference (GHR). February 2013; http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification. Accessed 10/18/2013.
- NINDS Fahr's Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 13, 2007; http://www.ninds.nih.gov/disorders/fahrs/fahrs.htm. Accessed 9/18/2008.
- Sobrido MJ, Hopfer S, Geschwind DH. GeneReviews. September 20, 2007; http://www.ncbi.nlm.nih.gov/gtr/conditions/C0393590/. Accessed 9/18/2008.