Acid Maltase Deficiency Myopathy Treatment & Management

Updated: Aug 31, 2018
  • Author: Stephen Kishner, MD, MHA; Chief Editor: Stephen Kishner, MD, MHA  more...
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Treatment

Rehabilitation Program

Physical Therapy

Little information has been published regarding the physiatric management of Pompe disease, probably owing to the lack of a specific treatment, the relentlessly progressive course, and the fatal outcome of the disease.

In the juvenile and adult forms of acid maltase deficiency (AMD), it would seem intuitive to focus physiatric treatment on the systems involved.

The use of assistive devices and orthoses may prove beneficial in patients with AMD who develop ambulatory difficulties. The use of intermittent positive pressure ventilation in Pompe disease would seem appropriate; however, because the disease involves not just the respiratory muscles but also the heart, the final outcome is likely to be the same.

Due to extended survival and musculoskeletal involvement, physiatric and orthopedic treatment may gain in importance.

A study by Jones et al found that adult patients with late-onset AMD who underwent a 12-week respiratory muscle training program achieved large to very large increases in inspiratory and expiratory muscle strength, with these improvements enduring relatively well even after 3 months’ detraining. The study involved eight patients. [16]