Introduction:

Enzyme replacement therapy in Pompe disease reduces short-term mortality.

Contents:

This therapy allows patients to maintain functional independence and adaptation of motor skills for patient participation in various aspects of daily life.

Conclusions:

The approach with this patients should be multidisciplinary to provide comprehensive management of the clinical condition of each individual seeking treatment of the physical and emotional aspects that may be altered in the disease progression: musculoskeletal, cardiovascular, respiratory, swallowing, language, nutritional and psychological; also including palliative care and pain management.

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