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Articles » NINDS Fahr's Syndrome Information Page: NINDS
 

NINDS Fahr's Syndrome Information Page: NINDS

Article title: NINDS Fahr's Syndrome Information Page: NINDS

Conditions: Fahr's Syndrome


What is Fahr's Syndrome?
Fahr's syndrome is a rare neurological disorder characterized by abnormal deposits of calcium in certain of areas of the brain including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include motor function deterioration, dementia, mental retardation, spastic paralysis, dysarthria (poorly articulated speech), spasticity (stiffness of the limbs), ocular (eye) impairments, and athetosis (involuntary, writhing movements). Features of Parkinson's disease such as tremors, rigidity (resistance to imposed movement), a mask-like facial appearance, shuffling gait, and a "pill-rolling" motion of the fingers may also occur in individuals with Fahr's syndrome. Other symptoms may include dystonia (disordered muscle tone), chorea (involuntary, rapid, jerky movements), and seizures. Onset of the disorder may occur at any time from childhood to adulthood.

Is there any treatment?
There is no cure for Fahr's syndrome, nor is there a standard course of treatment. Treatment is symptomatic.

What is the prognosis?
The prognosis for individuals with Fahr's syndrome is poor. Progressive neurological deterioration generally results in disability and death.

What research is being done?
The NINDS supports and conducts research on neurogenetic disorders such as Fahr's syndrome. The goals of this research are to find the genes involved in these disorders and to learn more about them. Finding the genes could lead to an effective means to treat and prevent disorders such as Fahr's syndrome.

Selected references

Billard C, Dulac O, Bouloche J, Echenne B, Lebon P, Motte J, Robain O, Santini JJ.
Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases. Neuropediatrics. 1989 Feb;20(1):12-9.

Callender, J. S.
Non-progressive familial idiopathic intracranial calcification: a family report. Journal of Neurology Neurosurgery and Psychiatry. 59: 432-434, 1995.

Geschwind, D. H.; Loginov, M.; Stern, J. M.
Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). American Journal of Human Genetics. 65: 764-772, 1999.

Lauterbach EC, Cummings JL, Duffy J, Coffey CE, Kaufer D, Lovell M, Malloy P, Reeve A, Royall DR, Rummans TA, Salloway SP.
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. 1998 Summer;10(3):249-66.

Rosenblatt A, Leroi I.
Neuropsychiatry of Huntington's disease and other basal ganglia disorders. Psychosomatics. 2000 Jan-Feb;41(1):24-30.

 Organizations

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
https://www.rarediseases.org/
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892


 

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