Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

System/ConcernEvaluationComment
Motor & sensory
neuropathy 		Neurologic exam
  • Obtain EEG.
  • Consider MRI if not previously performed.
Seizures
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Possible contractures (esp Achilles tendon)
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
  • Mobility, self-help skills, ADL, & need for adaptive devices
Scoliosis Orthopedics & pulmonary medicine
  • Baseline eval for scoliosis
  • Baseline pulmonary function assessment given ↑ risk for restrictive lung disease
Extraocular
muscle
involvement 		Ophthalmologic examAssess for ptosis, esotropia or exotropia, gaze palsy, & nystagmus.
Developmental
delay /
Intellectual
disability 		Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education / community & social activities
Psychotic
episodes 		Obtain history of possible events.When concerns, refer for psychiatric eval.
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of HMSN/ACC to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADL = activities of daily living; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

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.