Single Gene Mendelian Disorders
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A rare brain disorder marked by abnormal calcium deposits in areas that control movement, like the basal ganglia.
Even within the same family, genetic inheritance does not mean everyone will experience the condition the same way. Fahr disease features variable penetrance and expressivity. Some family members may inherit the gene and show heavy calcification on a brain CT scan but remain entirely asymptomatic throughout their lives, while others may develop severe movement or psychiatric symptoms.