disease 737 words KG: ent-dise-3f689b65
Contents

Fahr's Disease

Disease Info
PrevalenceApproximately 1 in 1,000,000 individuals
Typical OnsetHighly variable (2nd to 7th decade), typically in middle age
InheritanceAutosomal dominant (most cases); sporadic cases also reported
Full NameFahr's Disease / Idiopathic Familial Cerebral Ferrocalcinosis
SynonymsFahr's syndrome, Striopallidodentate calcinosis, Cerebrotendinous calcification
ClassificationNeurodegeneration with Brain Iron Accumulation (NBIA) / Movement Disorder / Neurogenetic Disorder
ICD-10 CodeG23.8 (Other degenerative diseases of basal ganglia)
Gender DistributionSlight male predominance reported in some studies
SLC20A2 mutationsImpair phosphate transport, leading to abnormal calcium/iron deposition[@roubergue2013]
PDGFRB mutationsAffect vascular integrity and mineral metabolism[@baker2014]
PLCB4 mutationsDisrupt cellular signaling pathways
ParkinsonismBradykinesia, rigidity, tremor
DatabasesOMIMOrphanetClinicalTrialsPubMed

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