Fahr's syndrome

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Fahr's Syndrome

Fahr's Syndrome (pronounced: /fɑːr/), also known as Fahr's Disease or Idiopathic Basal Ganglia Calcification (IBGC), is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.

Etymology

The syndrome is named after the German neurologist, Karl Theodor Fahr, who first described the condition in 1930.

Symptoms

The symptoms of Fahr's Syndrome can vary greatly among individuals and may include dystonia, parkinsonism, dementia, seizures, headache, stroke-like episodes, and psychiatric disorders.

Causes

Fahr's Syndrome is caused by mutations in several genes, including SLC20A2, PDGFRB, PDGFB, XPR1, and MYORG. These genes are involved in the regulation of calcium and phosphate in the body.

Diagnosis

Diagnosis of Fahr's Syndrome is based on clinical evaluation, detailed patient history, and a variety of specialized tests including Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) scans which can reveal characteristic calcium deposits in the brain.

Treatment

There is currently no cure for Fahr's Syndrome. Treatment is symptomatic and supportive, and may include medications to manage seizures, movement problems, and psychiatric symptoms.

Prognosis

The prognosis for individuals with Fahr's Syndrome varies and depends on the severity of symptoms and the individual's overall health. Some individuals may live relatively normal lives, while others may require assistance with daily activities.

See Also

External links

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