Table 4.

Treatment of Manifestations in Individuals with Calpainopathy

Manifestation/ConcernTreatmentConsiderations/Other
Neurologic
  • Passive PT program & stretching exercises instituted early following diagnosis to promote mobility, prolong walking, & slow disease progression by maintaining joint flexibility 1
  • Affected persons usually benefit from strengthening & gentle, 2 low-impact aerobic exercise (swimming, stationary bicycling) w/supervised submaximal effort to ↑ cardiovascular performance, ↑ muscle efficiency, & ↓ muscle fatigue.
  • Additional treatment per PT & OT 3
  • Maintain appropriate weight for height w/nutrition mgmt as needed.
Orthopedic
  • Mobility aids for loss of certain motor abilities; canes, walkers, orthotics, & wheelchairs enable affected persons to regain independence.
  • Knee-ankle-foot orthoses while sleeping to prevent contractures
  • Consider need for positioning & seating devices, as scoliosis occurs mainly after wheelchair dependence. 4
  • Surgical intervention as needed for orthopedic complications (foot deformities, scoliosis, Achilles tendon contractures)
  • Scapular fixation may be required for problematic scapular winging.
Respiratory
compromise
  • Annual influenza vaccination
  • Prompt treatment for chest & respiratory infections w/ mechanical in-exsufflator when needed 5
  • Nocturnal ventilator assistance (noninvasive ventilation by nasal masks) for those w/nocturnal hypoventilation &/or respiratory failure
  • Respiratory aids for those w/chronic respiratory insufficiency
  • Wheelchair-bound persons may develop weak cough efforts, placing them at risk of atelectasis, pneumonia, progressive mismatch, & respiratory failure.
  • Nocturnal ventilator assistance may be lifesaving in severely affected persons. 6
  • Respiratory aids may be indicated to prolong survival. 7
Cardiac Treatment per cardiology recommendations as needed
Social & family
support
Social & emotional support to ↑ quality of life, maximize sense of social involvement & productivity, & ↓ social isolation 8
Anticipate & facilitate decision making for affected persons & their families as disease progresses incl:
  • Decisions regarding loss of mobility;
  • Need for assistance w/ADL, medical complications, & end-of-life care. 9

From: Calpainopathy

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.