Fahr Disease Health Article

Demographics

Fahr disease, which appears to affect men and women equally, can appear at any stage of life, from infancy to adulthood. Some people diagnosed with the disease have no family history of the condition, while in many cases Fahr disease runs in families and affects members of several generations. In people with dominantly inherited Fahr disease, symptoms usually appear anywhere between the ages of 30 and 60. The recessive form of Fahr disease emerges at a younger age, between infancy and young adulthood.

Signs and symptoms

People with Fahr disease have abnormal calcium deposits in the basal ganglia, primarily in the globus pallidus region, and often in other parts of the brain. Loss of brain cells in these areas also occurs. The results of electrocardiogram (ECG) studies, which monitor heartbeats, are often abnormal in people with Fahr disease. Other signs include malfunctioning parathyroid glands and low blood calcium levels.

The disease causes a variety of physical and psychological symptoms. The head of a person with Fahr disease is often smaller and rounder than normal. The condition causes worsening dementia and loss of routine motor skills. Muscle stiffness, movement disorders, and paralysis may occur. Speech often becomes slurred. In some cases, Fahr disease causes vision problems and ear infections. Symptoms of Parkinson's disease may develop as well.

Diagnosis

In simple terms, Fahr disease is diagnosed when calcifications in the basal ganglia are associated with slurred speech, movement disorders, and other specific symptoms. Special imaging procedures such as a CT scan can detect the presence of calcium deposits. Symptoms can be determined by physical and psychological examinations. Friends or family members with relevant observations of the patient's behavior can also be helpful. Blood tests may be recommended to evaluate blood calcium levels and the parathyroid glands. The appearance of Parkinson-like symptoms is not essential to a diagnosis of Fahr disease.

In the absence of other factors, calcium deposits in the basal ganglia do not necessarily indicate the presence of Fahr disease. Such calcifications may be due to a metabolism disorder, infectious disease, or a genetic disorder other than Fahr. In fact, sometimes these calcifications may be present without producing any symptoms or harmful effects, especially in people older than age 60.

Treatment and management

There is no cure for Fahr disease, which worsens over time. The process of calcification cannot be stopped or reversed. Where possible, clinicians focus on alleviating its various mental and physical effects. These may vary to some degree depending on the individual, even among members of the same family. Lithium carbonate, for example, may be recommended to control psychotic symptoms, while antidepressant medications are often used to combat depression. Ear infections associated with Fahr disease can be treated with antibiotics and pain medication.

Prognosis

Due to its damaging effects on the brain and nervous system, Fahr disease is eventually fatal.

BOOKS

Victor, Maurice, et al. Principles of Neurology. 7th ed. New York: McGraw-Hill, 2001.

PERIODICALS

Geschwind, D. H., et al. "Identification of a Locus on Chromosome 14q for Idiopathic Basal Ganglia Calcification (Fahr Disease)." American Journal of Human Genetics 65 (1999): 764-772.

Lauterbach, E. C., et al. "Neuropsychiatric Correlates and Treatment of Lenticulostriatal Diseases: A Review of the Literature and Overview of Research Opportunities in Huntington's, Wilson's, and Fahr's Diseases. A report of the ANPA Committee on Research. American Neuropsychiatric Association." Journal of Neuropsychiatry and Clinical Neurosciences 10 (1998): 249-66.

Rosenblatt, A., and I. Leroi. "Neuropsychiatry of Huntington's Disease and Other Basal Ganglia Disorders." Psychosomatics 41(2000): 24-30.

ORGANIZATIONS

National Institute of Neurological Disorders and Stroke. 31 Center Drive, MSC 2540, Bldg. 31, Room 8806, Bethesda, MD 20814. (301) 496-5751 or (800) 352-9424. <http://www.ninds.nih.gov>.

National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06812-8923. (203) 746-6518 or (800) 999-6673. Fax: (203) 746-6481. <http://www.rarediseases.org>.

WEBSITES

Association of Birth Defect Children, Inc. <http://www.birthdefects.org>.l

Greg Annussek