Physical Rehabilitation

Pompe disease results in progressive muscular degeneration which causes varying types and degrees of physical disability. Management of these clinical manifestations is focused on preserving and improving physical function, as well as patient comfort. Equally important is to alleviate or prevent secondary complications such as contracture, deformity, and low bone mineral density.[1]

A rehabilitation program should be tailored to each patient’s needs and include a range of therapies and strategies, such as:[1]

  • Physical therapy
  • Occupational therapy
  • Speech therapy
  • Adaptive and assistive devices
  • Orthopedic intervention and/or surgery

Take Note: Motor & Functional Assessments

Regular motor and functional assessments help ensure a rehabilitation program optimized for the patient’s current status. Testing is recommended every 3-6 months for children under 5 years and yearly in older patients [1], [3]

Find out more about ongoing monitoring

Physical Therapy[1,2]

A customized physical therapy program for Pompe disease should include exercises to help strengthen weakened muscles, improve range of motion, and develop motor skills. Caution should be taken not to exceed the patient’s individual level of exercise tolerance or to stress already compromised respiratory or cardiac systems.

A primary goal of physical therapy is to maximize patient’s independence by improving mobility and general motor skills. Specific strengthening exercises can also target respiratory muscles in order to help maintain respiratory function. In addition, exercises designed to improve the function of muscles involved in chewing and swallowing may be employed to help with feeding difficulities.

Gentle stretching may also give symptomatic relief of contractures, scoliosis, and bone deformities, although in severe cases corrective orthopedic surgery may be necessary.

Other Adaptive Therapies

Patients with weakened facial and oral muscles may require speech therapy and other associated forms of intervention. Occupational therapy helps patients learn new ways to complete daily tasks and adapt to their environments at home, school, and in the workplace.

Wheelchairs & Other Devices

The progressive nature of Pompe disease and its impact particularly on limb-girdle muscles means that many patients eventually need to rely on mobility devices. In the earlier stages these may be canes and walkers, while more advanced patients may become completely non-ambulatory and require wheelchairs.[1], [4]

Learn more about wheelchair use and its impact on quality of life

Other adaptive and assistive devices may include:[1]

  • Supportive equipment and orthotics to prevent or minimize contracture and deformity
  • Special seats designed for infants and young children with poor head control
  • Cars modified for disabled drivers

References

  1. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8:267-88.
  2. Case LE, Kishnani PS. Physical therapy management of Pompe disease. Genet Med. 2006;8(5):318-327.
  3. Mellies U, Ragette R, Schwake C, et al. Sleep-disordered breathing and respiratory failure in acid maltase deficiency. Neurology 2001 Oct 9; 57(7): 1290-5.
  4. Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology 2006; 64:2139-41.

Ask a Medical Question

Genzyme Medical Information can answer questions about Pompe disease.

Ask a Question

Schedule of Assessments

The Pompe Registry has developed a recommended schedule of assessments to help in the care and monitoring of patients with Pompe disease.

Download Schedule of Assessments

Pompe Registry

Find out about the Pompe Registry, an ongoing, observational database that tracks natural history and outcomes of patients with Pompe disease.

Learn More