Symptomatic or corrective management

Symptomatic management for Pompe disease generally includes using supportive care and the treatment of complications - with attention to the respiratory complications and physical therapy.

While these treatments are appropriate strategies in managing Pompe disease and typically improve the quality of life for patients and their families, they do not address the underlying cause of the disease -- the alpha-glucosidase deficiency leading to progressive cellular accumulation of glycogen throughout the patient's body.

Respiratory Therapy

As a result of the severe weakening of the diaphragm and other respiratory muscles, respiratory therapy may become a critical component of disease management. Many patients with Pompe disease eventually require mechanical ventilation to reduce or eliminate the work of breathing. Other techniques involve the use of an incentive spirometer and intermittent positive pressure breathing (IPPB) to expand the lungs. Patients requiring 24-hour ventilatory support for prolonged periods may be considered for a tracheostomy.

Dietary Therapy

Dietary therapy is sometimes attempted in Pompe disease as case studies have shown that some patients will demonstrate clinical improvement in conjunction with a high-protein, low-carbohydrate diet or, alternatively, a diet rich in amino acids ^[1-4]. In addition, patients who are extremely weak--especially infants--may require tube feeding in order to maintain proper nutrition and prevent aspiration.

Physical Therapy

Patients who begin to lose mobility due to weakened muscles may also benefit from physical therapy. A customized exercise and/or physical therapy program may help to preserve range of motion and strength, while the use of assistive devices such as orthotics, canes, or walkers may help with ambulation. In advanced cases, a wheelchair may be indicated.

References

1. Slonim AE, Coleman RA, McElligot MA, et al. Improvement of muscle function in acid maltase deficiency by high-protein diet. Neurology 1983; 33: 34.

2. Umpleby AM, Wiles CM, Trend PS et al. Protein turnover in acid maltase deficiency before and after treatment with a high protein diet. J Neurol Neurosurg Psychiatry 1987 May;50(5):587-92.

3. Demey HE, Van Meerbeeck JP, Vandewoude MF, et al. Respiratory insufficiency in acid maltase deficiency: the effect of high protein diet. J Parenter Enteral Nutr 1989 May-Jun; 13(3): 321-3.

4. Mobarhan S, Pintozzi RL, Damle P, et al. Treatment of acid maltase deficiency with a diet high in branched-chain amino acids. J Parenter Enteral Nutr 1990 Mar-Apr; 14 (2): 210-2.