Disease, Fahr


Disease, Fahr
This syndrome described in 1930 by T. Fahr is a genetic (inherited) neurological disorder characterized by abnormal deposits of calcium in certain of areas of the brain (including the basal ganglia and the cerebral cortex). Symptoms may include motor function deterioration, dementia, mental retardation, spastic paralysis, dysarthria (poorly articulated speech), spasticity (stiffness of the limbs), ocular (eye) problems, 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. Fahr syndrome thus involves abnormalities of the neurologic system (cerebral calcification, dementia, spastic paraplegia, athetosis), skull (microcephaly, i.e. an abnormally small head), eyes (glaucoma, optic nerve atrophy, retinitis pigmentosa), and a significant hormone problem, namely hypoparathyroidism (the parathyroid gland regulates calcium). The disease is inherited as an autosomal recessive trait in which both parents carry a Fahr gene and each of their children (boys and girls alike) stands a 1 on 4 (25%) risk of receiving both Fahr genes and therefore having this dread disease. There is no cure for Fahr’s syndrome, nor is there a standard course of treatment. Treatment is directed toward minimizing symptoms. The prognosis (outlook) for individuals with Fahr’s syndrome is poor. Progressive neurological deterioration generally results in disability and death. Alternative names for this syndrome include nonarteriosclerotic cerebral calcification, Fahr disease, striopallidodentate calcinosis, SPD calcinosis, and cerebrovascular ferrocalcinosis.

Medical dictionary. 2011.

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