GTR Home > Conditions/Phenotypes > Neuroferritinopathy

Disease characteristics

Excerpted from the GeneReview: Neuroferritinopathy
Neuroferritinopathy typically presents with progressive adult-onset chorea or dystonia affecting one or two limbs, and subtle cognitive deficits. The movement disorder involves additional limbs within five to ten years and becomes more generalized within 20 years. When present, asymmetry remains throughout the course of the disorder. The majority of 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.

Available tests

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Associated genes

Clinical features

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  • Hypotension
  • Babinski sign
  • Hyperreflexia
  • Choreoathetosis
  • Hypertonia
  • Decreased serum ferritin
  • Gait disturbance
  • Dysarthria
  • Dysphagia
  • Incoordination
  • Constipation
  • Tremor
  • Feeding difficulties in infancy
  • Abnormality of eye movement
  • Blepharospasm
  • Emotional lability
  • Dementia
  • Disinhibition
  • Ataxia
  • Spasticity
  • Parkinsonism
  • Rigidity
  • Bradykinesia
  • Chorea
  • Neurological speech impairment
  • Mutism
  • Writer's cramp
  • Developmental regression
  • Anarthria
  • Reduced consciousness/confusion
  • Cavitation of the basal ganglia
  • Laryngeal dystonia
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