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.
- 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.
- 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.
- 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.
- Recommend vitamin D, calcium, and bisphosphonates, following the guidelines for other neuromuscular disorders.
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Treatment recommendations for the respiratory element of late-onset Pompe disease
- Involve a pulmonologist experienced in managing patients with neuromuscular diseases
- Up-to-date vaccinations, including vaccination against pneumococcus and influenza
- Early and aggressive treatment of bacterial and viral infections
- Clear secretions from airways (e.g., cough assist device, suction)
- Train/educate patients and families to use assisted cough and inspiratory muscle techniques
- Treat sleep-disordered breathing with continuous positive airway pressure (CPAP) or bilevel nocturnal noninvasive ventilation (BiPAP)
- In the absence of sleep studies, consider BiPAP ventilation if arterial PCO2 is ≥45 mm Hg, supine forced vital capacity is <50% of predicted, negative inspiratory force is <60 cm H2O, or oxygen saturation falls to <88% for 5 continuous minutes during sleep
- Treat concomitant conditions, such as asthma or cardiomyopathy
- Consider enzyme replacement therapy
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Treatment recommendations for the gastrointestinal element of late-onset Pompe disease.
- Coordinate treatment through a multidisciplinary neuromuscular clinic
- Involve an experienced dietitian
- Obtain videofluoroscopic swallowing assessment and evaluation for gastroesophageal reflux to guide management of feeding either orally or through a feeding tube
- Monitor growth parameters carefully
- Provide adequate nutrition consisting of high protein diet (20–25%) with attention to vitamins and minerals
- Educate patients about the appropriate use of over-the-counter medications
- Patients receiving enzyme replacement therapy should be monitored for IgG antibodies every 3 months for 2 years and then annually thereafter.
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Treatment recommendations based on the stage and severity of Pompe disease
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| Condition | Recommendation |
| Presymptomatic patients without objective signs | Patients should be examined every 6 months for proximal muscle weakness and pulmonary function. Enzyme replacement therapy (ERT) should be started at:
|
| Presymptomatic patients with objective signs |
ERT should be started if:
|
| Symptomatic patients | ERT should be started if:
|
| Severe symptoms | If the patient is confined to a wheelchair and is using invasive ventilation during the day and at night:
|
|
One year followed by reassessment to consider whether to continue the treatment. Patients receiving enzyme replacement therapy should be monitored for lgG antibodies every 3 months for 2 years, then annually thereafter. |
Treatment recommendations based on the experience in Taiwan
The authors recommend the implementation of newborn screening programs in all states to diagnose and properly treat infants with or at risk of developing infantile-onset or late-onset Pompe disease.
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Recommendation Grading
Overview
Title
Treatment Recommendations For Late-Onset Pompe Disease
Authoring Organization
American Association of Neuromuscular and Electrodiagnostic Medicine
Publication Month/Year
October 21, 2011
Last Updated Month/Year
June 21, 2023
Document Type
Consensus
External Publication Status
Published
Country of Publication
US
Inclusion Criteria
Female, Male, Adolescent, Adult, Child
Health Care Settings
Ambulatory
Intended Users
Speech language pathologist, genetics, dietician nutritionist, nurse, nurse practitioner, physician, physician assistant
Scope
Management, Treatment
Keywords
Pompe disease, autosomal recessive disorder