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Neuroferritinopathy

Synonyms
BASAL GANGLIA DISEASE, ADULT-ONSET; Neurodegeneration with brain iron accumulation 3
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Patrick F Chinnery
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Available tests

42 tests are in the database for this condition.

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Clinical tests (42 available)

Molecular Genetics Tests

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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Imported from Human Phenotype Ontology (HPO)

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