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Disease Profile
Primary Familial Brain Calcification
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.
Unknown
Age of onset
Adult
ICD-10
G23.8
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)
FIBGC (formerly); Idiopathic basal ganglia calcification 1; Fahr's Syndrome (formerly);
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Primary
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 | ||
Abnormality of neuronal migration | 0002269 | |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
0001250 | ||
Subcutaneous hemorrhage |
Bleeding below the skin
|
0001933 |
Low platelet count
|
0001873 | |
Ventriculomegaly | 0002119 | |
30%-79% of people have these symptoms | ||
Corneal opacity | 0007957 | |
5%-29% of people have these symptoms | ||
Abnormal pyramidal sign | 0007256 | |
Percent of people who have these symptoms is not available through HPO | ||
Adult onset |
Symptoms begin in adulthood
|
0003581 |
Athetosis |
Involuntary writhing movements in fingers, hands, toes, and feet
|
0002305 |
0000006 | ||
Basal ganglia calcification | 0002135 | |
Bradykinesia |
Slow movements
Slowness of movements
[ more ] |
0002067 |
Calcification of the small brain vessels | 0002504 | |
Chorea | 0002072 | |
Dense calcifications in the cerebellar dentate |
0002461 | |
Depressivity |
Depression
|
0000716 |
Difficulty articulating speech
|
0001260 | |
Dysdiadochokinesis |
Difficulty performing quick and alternating movements
|
0002075 |
0001332 | ||
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Limb dysmetria | 0002406 | |
Mask-like facies |
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ] |
0000298 |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 |
Micrographia | 0031908 | |
Parkinsonism | 0001300 | |
Postural instability |
Balance impairment
|
0002172 |
Progressive |
Worsens with time
|
0003676 |
Psychosis | 0000709 | |
Rigidity |
Muscle rigidity
|
0002063 |
Tremor | 0001337 | |
Urinary incontinence |
Loss of bladder control
|
0000020 |
Diagnosis
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, and
4) a
Molecular
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include hypoparathyroidism and pseudohypoparathyroidism, which can usually be excluded by normal serum levels of parathyroid hormone, Kenny-Caffey syndrome type 1, neurodegeneration with iron accumulation, Cockayne syndrome and Aicardi-Goutières syndrome (see these terms).
Visit the Orphanet disease page for more information.
|
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
-
Dystonia Medical Research Foundation
1 East Wacker Drive
Suite 1730
Chicago, IL 60601-1905
Toll-free: 1-0800-377-3978
Telephone: +1-312-755-0198
Fax: +1-312-803-0138
E-mail: [email protected]
Website: https://dystonia-foundation.org/ -
International Parkinson and Movement Disorder Society
555 East Wells Street, Suite 1100
Milwaukee, WI 53202-3823
Telephone: +1-414-276-2145
Fax: +1-414-276-3349
E-mail: [email protected]
Website: https://www.movementdisorders.org/ -
Parkinson's Foundation
200 SE 1st Street
Suite 800
Miami, FL 33131
Toll-free: 1-800-473-4636 (Helpline)
E-mail: [email protected].
Website: https://www.parkinson.org/
Social Networking Websites
-
Fahr Too Strong Foundation
P. O. Box 7626
Loveland, CA 80537
E-mail: [email protected]
Website: https://www.facebook.com/groups/fahrtoostrong/
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
- Genetics Home Reference (GHR) contains information on Primary Familial Brain Calcification. This website is maintained by the National Library of Medicine.
- 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 Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Primary Familial Brain Calcification. Click on the link to view a sample search on this topic.
References
- Sobrido MJ, Coppola G, Oliveira J, Hopfer S, Geschwind DH. Primary Familial Brain Calcification. GeneReviews. October 16, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1421/.
- Familial idiopathic basal ganglia calcification. Genetics Home Reference (GHR). February 2013; https://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification.
- NINDS Fahr's Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 13, 2007; https://www.ninds.nih.gov/disorders/fahrs/fahrs.htm. Accessed 9/4/2015.
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