General Medical Care
Muscle weakness, as well as respiratory and cardiac signs, associated with Pompe disease can often compromise patients’ general health and wellbeing. For example, many individuals experience problems with mobility, an increased susceptibility to infections as well as difficulties maintaining weight. A variety of therapies and strategies can help manage and control these issues:
- Dietary therapy and other techniques for ensuring adequate nutrition
- Special care with medications and surgery
- Strategies to prevent and manage infections
Nutrition & Weight Maintenance
Because of weakened facial and oral muscles, patients of all ages, from infants to adults, may experience difficulties eating. Trouble with sucking, chewing, and/or swallowing can lead to insufficient caloric intake, problems maintaining a healthy weight, and a general failure to thrive. Inadequate nutrition may even lead to endogenous muscle protein breakdown.[1]
Several approaches can address these issues:[1]
- Physical therapy to help strengthen muscles and allow for independent feeding
- Modification of food texture to facilitate swallowing and reduce the risk of aspiration
- Carefully balanced diets to maximize nutrients and provide protein to muscles
- Tube feeding, most commonly in severely ill infants
Medical & Surgical Considerations[1]
Similarly, the cardiomyopathy found in many younger patients requires careful consideration if any kind of surgery is required, since use of anesthesia poses risks of arrhythmia and other cardiac events. Anesthesia should be used only when absolutely necessary, and always overseen by experienced pediatric and/or cardiac anesthesiologists.
Preventing & Managing Infection
Since most patients with Pompe disease have some degree of respiratory impairment, they are often highly susceptible to pneumonia, bronchitis, and other infections,[1] with infants particularly at risk for aspiration pneumonia.[2]
Several important measures can help prevent these complications:[1]
- Routine immunizations for patients and their household members, including influenza, respiratory syncytial virus (RSV), and pneumococcal vaccines
- Strict hand washing precautions
- Prompt medical attention of seemingly minor symptoms (like coughs or fever) that could indicate a more serious underlying condition
- Aggressive treatment of infection to prevent progression to a more serious stage
Infections that develop despite these precautions may necessitate additional intervention with respiratory therapy.
Learn more about respiratory support
References
- Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8:267-88.
- Ibrahim, jennifer. Glycogen Storage Disease Type II. eMedicine Specialties. Available at: http://www.emedicine.com/ped/topic1866.htm. Accessed January 15, 2010.