Fahr's syndrome

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.^[1] The disease was first noted by German neurologist Karl Theodor Fahr in 1930. ^[2]

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.^[3]

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.

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.^[4]

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.

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.

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.

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

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