Table 1.
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 30° and 40° |
| Vitamins and mineral supplements |
| Recommend vitamin D, calcium, and bisphosphonates, following the guidelines for other neuromuscular disorders |