A few symptoms that are likely to occur is trouble with eating and gaining weight, poor head and neck control, respiratory issues, and enlargement of heart, liver, and even tongue. These symptoms can be found in infants between a few months and 1 year old. Wile those symptoms are true for infants there is a different age in which older individuals will express different symptoms of Pompe disease. This disease is expressed in an adult usually in their 60’s and is known as late onset Pompe disease, it is not rapidly progressing and doesn't usually negatively influence the heart. Some symptoms of late onset is the feeing of weakness in legs and arms, shortness of breath while doing activity or resting, stiff joints, a big curve in the spine, similar to early onset, there is the enlargement of the liver and tongue. In fact, these symptoms can lead to a diagnosis, which can be confirmed by the screening for the usual mutations in the genes or measuring the GAA activity in a blood sample. This is said to be 100% definite. An early diagnosis can lead to early
A few symptoms that are likely to occur is trouble with eating and gaining weight, poor head and neck control, respiratory issues, and enlargement of heart, liver, and even tongue. These symptoms can be found in infants between a few months and 1 year old. Wile those symptoms are true for infants there is a different age in which older individuals will express different symptoms of Pompe disease. This disease is expressed in an adult usually in their 60’s and is known as late onset Pompe disease, it is not rapidly progressing and doesn't usually negatively influence the heart. Some symptoms of late onset is the feeing of weakness in legs and arms, shortness of breath while doing activity or resting, stiff joints, a big curve in the spine, similar to early onset, there is the enlargement of the liver and tongue. In fact, these symptoms can lead to a diagnosis, which can be confirmed by the screening for the usual mutations in the genes or measuring the GAA activity in a blood sample. This is said to be 100% definite. An early diagnosis can lead to early