All are features of Pompe&;s disease except
Type II(Pompe) disease results from lysosomal storage of glycogen in skeletal muscles,cardiac muscles, and central nervous system.There is progressive cardiomyopathy.ECG shows left axis detion,sho PR interval & large QRS.Hea failure with dyspnoea and cyanosis may occur.Skeletal muscles show hypotonia and marked weakness.The tongue is large & protruding.It is also characterised by hepatomegaly and hypoglycemia. the disease usually presents within the first three months of life with rapidly progressive muscle weakness ('floppy infants'), diminished muscle tone (hypotonia), respiratory deficiency, and a type of hea disease known as hyperophic cardiomyopathy, a condition characterized by abnormal thickening of the walls of the hea (mainly the left chamber and the wall between the left and right chamber) resulting in diminished cardiac function. These problems together culminate in cardio-respiratory failure within the first 2 years of life. Reference:Essential pediatrics-Ghai,8th edition,page no:657.
Cardiomyopathy
Skeletal myopathy
Hyperglycemia
Hepatomegaly
Metabolic disorders