$Unique_ID{BRK03731} $Pretitle{} $Title{Fahr's Disease} $Subject{Fahr's Disease Fahr Disease Nonarteriosclerotic Cerebral Calcification Striopallidodentate Calcinosis SPD Calcinosis Cerebrovascular Ferrocalcinosis Parkinson Disease} $Volume{} $Log{} Copyright (C) 1989 National Organization for Rare Disorders, Inc. 597: Fahr's Disease ** IMPORTANT ** It is possible that the main title of the article (Fahr's Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Fahr Disease Nonarteriosclerotic Cerebral Calcification Striopallidodentate Calcinosis SPD Calcinosis Cerebrovascular Ferrocalcinosis Information on the following disease can be found in the Related Disorders section of this report: Parkinson Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fahr's Disease is a rare neurological disorder characterized by abnormal calcium deposits in certain areas of the brain. Major symptoms develop when these deposits accumulate including progressive deterioration of mental functioning, loss of previous motor development, spastic paralysis and twisting movements of the hands and feet (athetosis). Mental retardation and optic atrophy can also occur. In many cases, this disorder is inherited, although some cases may appear with no apparent genetic cause. Symptoms Fahr's Disease is marked by abnormal calcium deposits in areas of the brain, notably the basal ganglia, cerebral cortex, dentate nucleus, subthalamus and red nucleus areas. Loss of brain cells also occurs. These mineral deposits may also be found in areas where the myelin sheath surrounding nerves has been lost (demyelination), and in fatty (lipid) deposits. The heads of people with Fahr's Disease are often smaller than normal and appear to be round. Progressive deterioration of mental abilities (dementia) and loss of previous motor development are accompanied by spastic paralysis and in some cases, twisting movements of the hands and feet (athetosis). Vision disturbances (optic atrophy) and ear infections may also occur. Features of Parkinson's Disease found in this disorder may include tremors and rigidity, a masklike facial expression, shuffling walk, and a pill rolling motion of the fingers. Muscle cramping (dystonia), uncontrollable spasmodic irregular movements (chorea), and seizures can also occur. (For more information on Parkinson's Disease, please choose "Parkinson" as your search term in the Rare Disease Database.) The parathyroid glands may malfunction and low blood levels of calcium (hypoparathyroidism) may also occur in some cases of Fahr's Disease. Causes Fahr's Disease is thought to be inherited as an autosomal recessive trait although some cases appear sporadically, possibly as a consequence of fetal infection. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Fahr's Disease is a very rare disorder affecting males and females in equal numbers. Related Disorders The following disorder may be associated with Fahr's Disease as a secondary characteristic. It may not be necessary for a differential diagnosis: Parkinson's Disease is a progressive neurological disorder characterized by tremor, muscular rigidity, slowness of movements (bradykinesia) balance problems and difficulty in initiating movements. In Parkinson Disease, there are degenerative changes in the substantia nigra and other pigmented regions of the brain, and a decrease in dopamine levels in neurons associated with these areas. In the great majority of cases, the cause is unknown. Parkinsonian symptoms may very rarely appear after infarcts (strokes), tumors in the vicinity of the basal ganglia, hydrocephalus, cerebral trauma, encephalitis, or exposure to certain drugs and toxins. Parkinson's Disease appears in adulthood and progresses very slowly over years. (For more information on this disorder, choose "Parkinson" as your search term in the Rare Disease Database). Therapies: Standard Treatment of ear infections in Fahr's Disease involves antibiotic drugs and/or pain medication as needed. Lithium Carbonate may be prescribed to treat some psychotic symptoms of this disorder. Other treatment is symptomatic and supportive. Genetic counseling may be of benefit for patients and their families if they have the hereditary form of Fahr's Disease. Therapies: Investigational Research is being conducted on Fahr's Disease to find better diagnostic techniques and enhance understanding of genetic aspects. A Fahr's Disease registry has been developed and families are invited to register cases of Fahr's Disease with: Bala V. Manyam, M.D. Fahr's Disease Registry Parkinson's Disease and Movement Disorders Clinic Southern Illinois University School of Medicine P.O. Box 19230 Springfield, IL 62794-9230 This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fahr's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Parkinson's Disease and Movement Disorders Clinic Bala V. Manyam, M.D. Fahr's Disease Registry Southern Illinois University School of Medicine P.O. Box 19230 Springfield, IL 62794-9230 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References IDIOPATHIC NONARTERIOSCLEROTIC CEREBRAL CALCIFICATION (FAHR'S DISEASE): AN ELECTRON MICROSCOPIC STUDY: S. Kobayashi, et al.; Acta Neuropathol (Berl) (1987, issue 73(1)). Pp. 62-66. THE TREATMENT OF PSYCHOTIC SYMPTOMS IN FAHR'S DISEASE WITH LITHIUM CARBONATE: K.M. Munir; J Clin Psychopharmacol. (February 1986, issue 6(1)). Pp. 36-38. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 879.