Table 5. [Treatment of Manifestations in Individuals with Neuroferritinopathy]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Movement disorders	Levodopa, tetrabenazine, orphenadrine, benzhexol, sulpiride, diazepam, clonazepam, & deanol in standard doses ¹	Best administered & managed by mvmt disorders specialist Response to these treatments is only seen in some persons, as mvmt disorders can be resistant to conventional therapy; no formal treatment trials have been completed. Drug therapy is empiric based on predominant symptoms, which may change over time. Anecdotal reports describe improvement w/oral iron chelation agent deferriprone. ²
Botulinum toxin	Particularly helpful for painful focal dystonia
Cognitive disability / Behavioral issues	Assessment by neuropsychiatrist/behavioral specialist	May be required for cognitive & neurobehavioral features. May require psychotropic medication to manage behavioral symptoms.
Diet/Nutrition	Ongoing dietary & nutritional support	To maintain caloric intake
Family/Community	Ensure appropriate social work involvement to connect families w/local resources, respite, & support. Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.	Ongoing assessment of need for palliative care involvement &/or home nursing

Manifestation/Concern

Treatment

Considerations/Other

Movement disorders

Levodopa, tetrabenazine, orphenadrine, benzhexol, sulpiride, diazepam, clonazepam, & deanol in standard doses ¹

Best administered & managed by mvmt disorders specialist
Response to these treatments is only seen in some persons, as mvmt disorders can be resistant to conventional therapy; no formal treatment trials have been completed.
Drug therapy is empiric based on predominant symptoms, which may change over time.
Anecdotal reports describe improvement w/oral iron chelation agent deferriprone. ²

Botulinum toxin

Particularly helpful for painful focal dystonia

Cognitive disability /
Behavioral issues

Assessment by neuropsychiatrist/behavioral specialist

May be required for cognitive & neurobehavioral features.
May require psychotropic medication to manage behavioral symptoms.

Diet/Nutrition

Ongoing dietary & nutritional support

To maintain caloric intake

Family/Community

Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.

Ongoing assessment of need for palliative care involvement &/or home nursing

From: Neuroferritinopathy

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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