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GTR Home > Conditions/Phenotypes > Neuroferritinopathy


Excerpted from the GeneReview: Neuroferritinopathy
Neuroferritinopathy is an adult-onset progressive movement disorder characterized by chorea or dystonia and speech and swallowing deficits. The movement disorder typically affects one or two limbs and progresses to become more generalized within 20 years of disease onset. When present, asymmetry in the movement abnormalities remains throughout the course of the disorder. Most individuals develop a characteristic orofacial action-specific dystonia related to speech that leads to dysarthrophonia. Frontalis overactivity and orolingual dyskinesia are common. Cognitive deficits and behavioral issues become major problems with time.

Genes See tests for all associated and related genes

  • Also known as: FTL1, LFTD, NBIA3, FTL
    Summary: ferritin light chain

Clinical features


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