Table 4.

Recommended Surveillance for Individuals with MFN2 Hereditary Motor and Sensory Neuropathy

System/ConcernEvaluationFrequency
Neurologic
  • Neurologic exam
  • Electroneurography of peripheral nerves
  • EMG/ENG
Annually
Musculoskeletal
  • PT assessment (gross motor skills incl gait & strength)
  • OT assessment (fine motor skills)
Annually
Imaging MRI of legs to assess amount & location of fat replacing muscles 1Specialized centers only, every few yrs
Foot exam For pressure sores or poorly fitting footwearAnnually
Vision Those w/o visual manifestationsRoutine ophthalmologic examWhen visual changes occur
Those w/optic
atrophy		Assessment of visual acuity, visual fieldsPer treating ophthalmologist
Assessment of low vision aidsPer treating low vision clinic
For children: assessment of educational needsAnnually
Family support/resources At each visit

EMG = electromyogram; ENG = electronystagmography; OT = occupational therapy; PT = physical therapy

1.

From: MFN2 Hereditary Motor and Sensory Neuropathy

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.