Fahr's syndrome

Fahr's syndrome
Idiopathic Basal Ganglia Calcification
OMIM	213600
DiseasesDB	32200

WikiDoc Resources for Fahr's syndrome
Articles
Most recent articles on Fahr's syndrome Most cited articles on Fahr's syndrome Review articles on Fahr's syndrome Articles on Fahr's syndrome in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Fahr's syndrome Images of Fahr's syndrome Photos of Fahr's syndrome Podcasts & MP3s on Fahr's syndrome Videos on Fahr's syndrome
Evidence Based Medicine
Cochrane Collaboration on Fahr's syndrome Bandolier on Fahr's syndrome TRIP on Fahr's syndrome
Clinical Trials
Ongoing Trials on Fahr's syndrome at Clinical Trials.gov Trial results on Fahr's syndrome Clinical Trials on Fahr's syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Fahr's syndrome NICE Guidance on Fahr's syndrome NHS PRODIGY Guidance FDA on Fahr's syndrome CDC on Fahr's syndrome
Books
Books on Fahr's syndrome
News
Fahr's syndrome in the news Be alerted to news on Fahr's syndrome News trends on Fahr's syndrome
Commentary
Blogs on Fahr's syndrome
Definitions
Definitions of Fahr's syndrome
Patient Resources / Community
Patient resources on Fahr's syndrome Discussion groups on Fahr's syndrome Patient Handouts on Fahr's syndrome Directions to Hospitals Treating Fahr's syndrome Risk calculators and risk factors for Fahr's syndrome
Healthcare Provider Resources
Symptoms of Fahr's syndrome Causes & Risk Factors for Fahr's syndrome Diagnostic studies for Fahr's syndrome Treatment of Fahr's syndrome
Continuing Medical Education (CME)
CME Programs on Fahr's syndrome
International
Fahr's syndrome en Espanol Fahr's syndrome en Francais
Business
Fahr's syndrome in the Marketplace Patents on Fahr's syndrome
Experimental / Informatics
List of terms related to Fahr's syndrome

Overview

Idiopathic Basal Ganglia Calcification, also known as Fahr disease or Fahr’s Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. It is a rare degenerative neurological disorder characterized by calcifications and cell loss within the basal ganglia. The disease was first noted by German neurologist Karl Theodor Fahr in 1930.

Symptoms

Symptoms of the disorder may include deterioration of motor function, pychosis dementia, seizures, headache, dysarthria (poorly articulated speech), spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing movements). Although Fahr’s disease appears most commonly with motor deficits, about 40% of the patients with Fahr’s disease are seen with primarily cognitive and other psychiatric findings.

Fahr’s Syndrome can also include symptoms characteristic of Parkinson disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a “pill-rolling” motion of the fingers. These symptoms generally occur later in the development of the disease.

More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.

Prognosis

There is no cure for Fahr’s Syndrome, nor is there a standard course of treatment. Treatment addresses symptoms on an individual basis. Case reports have suggested that haloperidol or lithium carbonate may help with psychotic symptoms.

The prognosis for any individual with Fahr’s Syndrome is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. Since the appearance of calcification is age-dependent, a CT scan could be negative in a gene carrier who is younger than the age of 55.

Progressive neurological deterioration generally results in disability and death.

Related research

The National Institute of Neurological Disorders and Stroke (NINDS) supports and conducts research on neurogenetic disorders such as Fahr’s Syndrome. The goals of this research are to locate and understand the actions of the genes involved in this disorder. Finding these genes could lead to effective ways to treat and prevent Fahr’s Syndrome.

Source

This article is based on a Q&A website prepared by NINDS [1], part of the National Institutes of Health located in Bethesda, Maryland.

All NINDS-prepared information is in the public domain and may be freely copied.

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

External links

• Fahr Syndrome Images (MedPix)
• National Organization for Rare Disorders (NORD)
• National Institute on Aging (NIA)
• National Institute of Mental Health (NIMH)