MedGen

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. [from GeneReviews]

A rare genetic haematologic disease characterised by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalised seizures, atypical restless leg syndrome, mild neuropsychologic impairment and progressive hair loss. Asymptomatic cases have also been reported. [from SNOMEDCT_US]

Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. [from HPO]