The movie, “Extraordinary Measures” is captivating real life story about a successful man working for a prominent pharmaceutical company, fighting for the lives of two of his children with Pompe disease. Pope Disease clinical features were first described by J. C. Pompe in 1932. By definition, Pompe disease, also known as AMD (acid maltose deficiency), is an autosomal metabolic disorder which damages muscle and nerve cells through the body. More specifically, Pompe disease, one of a group of 49 rare genetic diseases,occurring 1 in 40,000 births, in which the individual is missing Acid Alpha Glucosidase (GAA), an enzyme that metabolizes sugar glycogen. This lack of enzyme causes sugar to build in muscle cells. This build up negatively affects the heart, skeletal muscles,
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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