Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Hypermanganesemia with Dystonia 1

System/ConcernEvaluationComment
Neurologic status
  • Neurologic exam for dystonia, parkinsonism, & spasticity
  • Incl eval of (1) ambulation & speech & (2) swallowing & nutritional status
Assessment for needs for PT, OT, &/or speech therapy
Brain MRI as baselineImprovement may be seen w/normalization of manganese blood levels.
Hypermanganesemia Whole-blood manganese levelsEstablish baseline.
Liver disease Liver function tests, liver ultrasound exam, & liver biopsy if indicatedConsultation w/hepatologist is advised.
Iron status Total iron binding capacity, ferritinMonitoring of iron supplementation
Genetic counseling By genetics professionals 1To inform affected persons & families re nature, MOI, & implications of HMNDYT1 in order to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Hypermanganesemia with Dystonia 1

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.