Treatment Recommendations For Late-Onset Pompe Disease

Publication Date: October 21, 2011
Last Updated: March 14, 2022


Treatment recommendations for the musculoskeletal element of late-onset Pompe disease.
  • Provide patient with information on the following resources:
  • Muscular Dystrophy Association, Acid Maltase Deficiency Association, Pompe Registry, Association for Glycogen Storage Disease, International Pompe Association.
Physical examination and assessments
  • Patients should be examined by a cardiologist and pulmonologist before beginning an exercise program.
  • Screen all patients diagnosed with Pompe disease, regardless of age and wheelchair use, with dual-energy x-ray absorptiometry (DEXA); follow-ups can be considered on a yearly basis.
  • Patients with late-onset Pompe disease and reduced bone density should undergo medical evaluation, including laboratory testing and medication review by an endocrinologist or bone density specialist.
  • Conduct fall risk assessment followed by a formal evaluation for balance and safe gait training for patients at increased risk for osteoporosis and falls.
  • Recommend adaptive equipment, such as a cane or walker, to reduce risk of falls.
Physical/occupational therapy
  • A physical or occupational therapist should develop an exercise program that may include one or more of the following: walking, treadmill, cycling, pool-based program, swimming, submaximal aerobic exercise, or muscle strengthening, that follows the guidelines for other degenerative muscle diseases.
  • Avoid overwork weakness, excessive fatigue, disuse, strenuous exercises, and eccentric contractions
  • Emphasize submaximal aerobic exercise.
  • Incorporate functional activities when possible.
  • Teach patient to monitor heart rate and breathing in relation to exertion.
  • Integrate energy conservation techniques and biomechanical advantages.
  • A preventive stretching regimen should be started early and performed as part of the daily routine to prevent or slow the development of muscle contractures and deformities.
Management of contractures
  • Manage contractures by using orthotic devices, appropriate seating position in the wheelchair, and standing supports.
  • Surgical intervention.
  • Surgical intervention should be considered for scoliosis when the Cobb angle is between 300 and 400.
Vitamins and mineral supplements
  • Recommend vitamin D, calcium, and bisphosphonates, following the guidelines for other neuromuscular disorders.



Treatment Recommendations For Late-Onset Pompe Disease

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