Neurológia pre prax 6/2023
Pompe’s disease – when nothing standard applies
We present the case report of a patient with acute respiratory insufficiency, long-term dependent on artificial pulmonary ventilation with generalized muscle weakness of unclear origin. The patient underwent a series of examinations, which ultimately led to the correct diagnosis and subsequent treatment of Pompe disease despite the non-specific clinical picture and the non-specific result of the first EMG examination and the negativity of muscle enzymes.
Keywords: Pompe disease, alpha glucosidase
