Glycogen storage disease type II
The main things that doctors can look for include floppy baby appearance, delays in critical parts of being able to move (for example: being able to lift your head and neck), and feeding difficulties. A liver that is moderately larger than usual (mild hepatomegaly) might happen. Facial features include an unusually large tongue (macroglossia), wide open mouth, wide open eyes, and flaring of the babies nostrils (due to respiratory distress). The heart and lungs can be affected, shown by a faster breathing rate, the use of additional muscles for breathing, frequent and repeated chest infections, reduced entry of air into the lower left zone (due to cardiomelagy, or an enlarged heart), irregular heartbeat (arrythmias) and signs of heart failure.