Pompe Disease (PD)

Pompe disease is a rare hereditary glycogen storage disease characterized by a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is necessary to break down glycogen molecules stored within cellular lysosomes. The progressive accumulation of glycogen within lysosomes causes symptoms of varying degrees of severity that affect the neuromuscular and cardiopulmonary systems.¹ 

In 2006, the American College of Medical Genetics and Genomics developed guidelines for the diagnosis and management of Pompe disease in Genetics in Medicine. The recommendations detailed comprehensive rehabilitation services that included physical therapy, occupational therapy, speech therapy, respiratory therapy, and early intervention services.²

Pulmonary Rehabilitation Therapy

Pulmonary rehabilitation therapy assists  individuals with pulmonary dysfunction, such as that associated with Pompe disease, to breathe more easily. Rehabilitation therapy includes strengthening and breathing exercises, secretion management, and patient education.³ Its purpose is to promote airway clearance, provide prophylaxis and treatment for respiratory infections and atelectasis, and maintain and enhance a normal ventilation/perfusion ratio.⁴  

Pulmonary rehabilitation therapy is typically administered in a group setting. Doctors, nurses, physical and respiratory therapists, and dietitians collaborate to create a customized program for each patient.^3,4 Pulmonary function tests are essential to determine the specific needs of a patient with Pompe disease and inform clinicians of the tasks they must undertake to optimize pulmonary rehabilitation therapy according to the patient’s stage of disease.⁴   

During pulmonary therapy sessions, patients strengthen both inspiratory and expiratory muscles to combat the progressive muscular weakness associated with Pompe disease. Inspiratory muscle strengthening targets the diaphragm and intercostal muscles to improve the maximum inspiratory pressure (MIP) and stabilize the vital capacity; expiratory muscle strengthening targets the abdominal muscles to improve cough flow, which facilitates airway clearance and bronchial drainage.^4-6 Strengthening programs last from 8 to 12 weeks, and patients are given a home exercise program so that they can continue exercising on their own. Typically, the positive changes achieved during respiratory muscle training last for approximately 3 months without continued training.⁴ 

Breathing exercises include pursed lip breathing; slow, deep breathing; and diaphragmatic and segmental breathing. In addition, the patient is taught to breathe in a head-down, bent-forward position.⁷  

Airway clearance techniques include postural drainage and percussion performed by a therapist, and high-frequency chest wall oscillations administered with a vibratory vest. Cough assist techniques such as huffing, air stacking, hyperinsufflation/exsufflation, and manually assisted compression of the rib cage and abdomen (abdominal thrusting) help loosen and remove mucus in the airways.^4,7,8 Other peripheral disruption interventions, such as the “Flutter” PEP Mask, autogenous drainage, and ELTGOL (total slow expiration performed at glottis open and in lateral decubitus), increase peripheral airflow and so promote the expectoration of secretions in the upper airways.⁴

Mechanical ventilatory support with either noninvasive or invasive techniques improves oxygen saturation and gas exchange, reduces the work of breathing, provides critical respiratory support during episodes of respiratory failure, and prevents nocturnal hypoventilation.^4,9  

Individuals with Pompe disease are susceptible to respiratory tract infections because progressive weakness of the respiratory musculature makes it difficult to clear secretions.¹⁰ Infection prophylaxis and the immediate aggressive treatment of respiratory infections such as pneumonia are an important part of pulmonary rehabilitation and prevent progressive damage to the lungs during acute exacerbations.⁹ 

Comprehensive patient and caregiver education includes information about Pompe disease, psychosocial support to enable optimal disease management, and personalized advice and education about nutrition, smoking cessation, modification of activities, and the goals of pulmonary rehabilitation therapy.¹¹  

References

1. Smith BK, Martin AD, Lawson LA, et al. Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: clinical evidence of respiratory plasticity. Exp Neurol. 2017;287(Pt 2):216-224. doi:10.1016/j.expneurol.2016.07.013
2. ACMG Work Group on Management of Pompe Disease: Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267. doi:10.1097/01.gim.0000218152.87434.f3
3. The basics of pulmonary rehabilitation. American Lung Association. Accessed March 3, 2022. 
4. Iolascon G, Vitacca M, Carraro E, et al. The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence. Acta Myol. 2018;37(4):241-251. 
5. Aslan GK, Huseyinsinoglu BE, Oflazer P, Gurses N, Kiyan E. Inspiratory muscle training in late-onset Pompe disease: the effects on pulmonary function tests, quality of life, and sleep quality. Lung. 2016;194(4):555-561. doi:10.1007/s00408-016-9881-4
6. Fernández CG, Rosso RE. Role of respiratory rehabilitation in Pompe disease: a case report. J Neuromuscul Dis. 2015;2(Suppl 1):516-517. doi:10.3233/JND-159016
7. Faling LJ. Pulmonary rehabilitation–physical modalities. Clin Chest Med. 1986;7(4):599-618. 
8. Vest therapy (high frequency chest wall oscillation). Cincinnati Children’s. Accessed March 3, 2022. 
9. Pompe disease: Pompe disease symptoms, treatment and prevention. Hong Kong Global Pharmaceutical Trading Company. Published 2017. Accessed March 3, 2022.
10. Late-onset Pompe disease. Presentation, diagnosis, and management. American Association of Neuromuscular and Electrodiagnostic Medicine and MedLogix Communications. Accessed March 3, 2022.
11. Tidy C. Pulmonary rehabilitation. Patient. Accessed March 3, 2022. 

Reviewed by Kyle Habet, MD, on 3/30/2022.

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Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT

Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT is a freelance medical writer and Doctor of Physical Therapy from Maryland. She has expertise in the therapeutic areas of orthopedics, neurology, chronic pain, gastrointestinal dysfunctions, and rare diseases especially Ehlers Danlos Syndrome.