Familial idiopathic basal ganglia calcification

Overview

Type of disease: Rare conditions

Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Seizures of various types frequently occur. Symptoms typically start in an individual's 20's to 40's but may begin at any age.The neuropsychiatric symptoms and movement disorders worsen over time. Mutations in the SLC20A2 and PDGFRB genes have been found to cause FIBGC, and this condition is inherited in an autosomal dominant manner. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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