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Fahr's disease MeSH Supplementary Concept Data 2025
A hereditary condition with autosomal dominant inheritance that is characterized by symmetric calcinosis in the basal ganglia and other brain regions. Patients can either be asymptomatic or show a variety of neuropsychiatric symptoms that include PARKINSONISM; DYSTONIA; TREMOR; ATAXIA; DEMENTIA; PSYCHOSIS; SEIZURES and CHRONIC HEADACHE. Serum levels of CALCIUM; PHOSPHATE; ALKALINE PHOSPHATASE and PARATHYROID HORMONE are normal. Onset is typically between 30 and 50 years of age. A heterozygous mutation in the SLC20A2 gene has been identified. OMIM: 213600