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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • FIBGC
  • Idiopathic basal ganglia calcification 1
  • IBGC1
  • Bilateral striopallidodentate calcinosis
  • BSPDC
  • Cerebral calcification nonarteriosclerotic idiopathic adult-onset
  • Striopallidodentate calcinosis autosomal dominant adult-onset
  • Ferrocalcinosis, cerebrovascular
  • Fahr disease, familial (formerly)
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Home > Genetic & Rare Diseases Information Center (GARD) > Familial idiopathic basal ganglia calcification



Familial idiopathic basal ganglia calcification
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Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia), involuntary movements, or muscle cramping. Neuropsychiatric symptoms may include mild difficulty with concentration and memory, changes in personality or behavior, or psychosis and dementia. Seizures of various types frequently occur. Symptoms typically start in an individual's 20's to 40's but may begin at any age. The neuropsychiatric symptoms and movement disorders worsen over time. The cause of FIBGC is currently unknown.  FBIGC is inherited in an autosomal dominant manner.[1]


References
  1. Sobrido MJ, Hopfer S, Geschwind DH. Familial Idiopathic Basal Ganglia Calcification. GeneReviews. September 20, 2007 Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bgc. Accessed November 18, 2010.
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More Detailed Information (Found 9 resources)
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  • General

    • Genetics Home Reference (GHR) contains information on Familial idiopathic basal ganglia calcification. Click on the link to go to GHR and review the information.
    • The National Institute of Mental Health (NIMH) is dedicated to understanding, treating, and preventing mental illnesses through basic research on the brain and behavior, and through clinical, epidemiological, and services research. You can contact NIMH by calling toll-free 866-615-6464 or by e-mail at nimhinfo@nih.gov
    • 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.
    • The National Institute on Aging (NIA) leads a national program of research on the biomedical, social, and behavioral aspects of the aging process; the prevention of age-related diseases and disabilities; and the promotion of a better quality of life for all older Americans. You can contact the NIA by calling 301-496-1752 or by visting their Web site.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Familial idiopathic basal ganglia calcification. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial idiopathic basal ganglia calcification. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • 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. Click on the link to view the article on this topic.
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Organizations (Found 10 resources)
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    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
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    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

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    • The Parkinson’s Information Service (PINS) is a national helpline supported by the Parkinson's Disease Foundation. Call toll-free1-800-457-6676 Monday through Friday from 9am to 6pm Eastern Time.
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    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
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Scientific Conferences (Found 2 resources)
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    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
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Clinical Trials & Research (Found 3 resources)
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    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • The Dystonia Coalition is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with cervical dystonia, blepharospasm, spasmodic dysphonia, craniofacial dystonia, and limb dystonia through research. The Dystonia Coalition has a registry for patients who wish to be contacted about clinical research opportunities.

      For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm
    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

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