Treatment Recommendations For Late-Onset Pompe Disease

Publication Date: October 21, 2011

Last Updated: March 14, 2022

Recommendations

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.