Table 4.

Treatment of Manifestations in Individuals with Spinal and Bulbar Muscular Atrophy

Manifestation/ConcernTreatmentConsiderations/Other
UMN & LMN
involvement / ADL
Physical medicine & rehab / PT & OTAnkle-foot braces, walkers, wheelchairs, hospital beds, toileting equipment, lifts to improve functionality
Dysarthria Speech/language therapyUse of augmentative communication devices
Dysphagia Feeding eval & therapy
  • Safe swallowing techniques, diet modifications, education re cutting food into small pieces for eating & avoiding items that may be difficult to chew & swallow
  • Gastrostomy tube as needed
Gynecomastia Breast reduction surgery as needed
Cardiac & other
manifestations
Standard treatment per cardiologist &/or endocrinologistMonitor blood sugar, lipids, & cholesterol for insulin resistance & nonalcoholic fatty liver disease.
Family/caregiver
support & resources
Psychosocial support & education via caregiver & patient support groupsTo ↓ stress & burden on caregivers

ADL = activities of daily living; LMN = lower motor neuron; OT = occupational therapy; PT = physical therapy; UMN = upper motor neuron

From: Spinal and Bulbar Muscular Atrophy

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.