Physical and Occupational Therapy for Pompe Disease

Muscle weakness is a prominent feature of all types of Pompe disease. Physiotherapy and occupational therapy are part and parcel in helping patients overcome these symptoms and improving their overall quality of life.

Muscle weakness

Muscle weakness in Pompe disease develops because of the abnormal accumulation of a complex sugar called glycogen in the muscles, especially those of the trunk, legs, and hips. This affects a person’s ability to walk and move. Adolescents with Pompe disease also may have weakening in the muscles surrounding the spine, which may interfere with normal growth and lead to scoliosis or an abnormal spinal curvature. Bones tend to weaken, too, and are more prone to fractures when the muscles attached to them are not used as much.

A physiotherapist can help by implementing and monitoring a light exercise routine that may involve walking, cycling, swimming or strength training to maintain muscle strength in people with Pompe disease. It is important to not perform excessively strenuous exercise, though, because it may cause more muscle damage. Physiotherapists also can advise about how to prevent falls, a common problem when the muscles of the trunk and hip become weaker. Physiotherapists also can offer advice about techniques for  getting up safely after a fall.

While most adults with Pompe disease eventually may need a walking aid or a wheelchair, exercise and physiotherapy can help preserve mobility for as long as possible.

Muscle contractures

Weak muscles deter a person from using them as much, and this leads to tightness and stiffness. If left unused for too long, muscles and joints can get stuck in one position, leading to contractures.

Physiotherapy can overcome this problem using techniques such as daily muscle stretching, proper muscle positioning, and splints for support. These techniques can help maintain a range of motions and muscle flexibility.

Chest physiotherapy

Pompe patients often have trouble breathing and coughing due to weakness in the respiratory muscles. This leads to an increased risk of chest infections as mucus tends to accumulate in the lungs. Chest physiotherapy involves assisting the patient in clearing the airways using various maneuvers, devices, and mucus drainage techniques.

Occupational therapy

While physiotherapy focuses primarily on supporting a person’s ability to move, occupational therapy retrains patients in their abilities to perform activities of daily living.

Occupational therapy may include hand exercises to maintain dexterity and strength in performing common tasks such as using a key or buttoning up a shirt. Occupational therapists also will be able to recommend specific adaptive devices that are designed to make these everyday tasks easier and less taxing.


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