Pompe Disease

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.

One type of Pompe disease, known as infantile onset, begins within a few months of birth. Infants with this disorder typically exhibit symptoms such as muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver and heart, and heart failure. Affected infants may also have poor feeding, failure to gain weight and grow at the expected rate (failure to thrive), and breathing problems. Most infants with Pompe disease cannot hold up their heads or move normally. As the disease progresses, swallowing may become difficult and the tongue may become abnormally enlarged (macroglossia). Most children with this form of Pompe disease do not survive beyond the age of 2.

Other forms of Pompe disease are known as late onset and may not show signs and symptoms until childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset form of this disorder. Most individuals experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing.

Source: http://ghr.nlm.nih.gov/condition=pompedisease