Acid Alpha-Glucosidase Deficiency and Receiving Social Security DisabilityAcid alpha-glucosidase deficiency is a rare autosomal recessive metabolic ailment. Acid alpha-glucosidase deficiency is the most severe type of glycogen storage disease. Thankfully, it is much rarer than von Gierkes disease. Von Gierkes disease is the most common kind of glycogen storage disease. Acid alpha-glucosidase deficiency is thought to occur in about 1 in 40,000 to 300,000 births in the United States. Children have a 1 in 4 chance of inheriting this ailment when both parents carry the defective (faulty) gene. This is what is known as an autosomal recessive pattern of inheritance. In common with other glycogen storage diseases, acid alpha-glucosidase deficiency is a genetically linked metabolic ailment that is related to the enzymes that regulate glycogen metabolism. These enzymes control the processing of glycogen breakdown or synthesis within your liver, ahaha muscles and other cell types. A different enzyme is in control of each step in this process of glycogen synthesis. The process is halted if any one of these enzymes is faulty and does not finish the step that it is responsible for. The kind of glycogen storage disease that you are afflicted with depends on which one of these enzymes is faulty and does not do its job. Acid alpha-glucosidase deficiency is brought about by defects (mutations) that take place in a gene that is referred to as alpha-glucosidase or GAA. However, at this time, no one knows what causes this mutated gene to develop. There are two kinds of acid alpha-glucosidase deficiency. They are infantile-onset and late onset acid alpha-glucosidase deficiency. Infantile-onset acid alpha-glucosidase deficiency is recognized shortly after birth. The signs and symptoms of this form of the ailment include a severe lack of muscle tone, a greatly enlarged heart and other heart difficulties, weakness and an enlarged liver. Fortunately, mental function is not affected by infantile-onset acid alpha-glucosidase deficiency. A baby seems to be normal for the first weeks or months of life, but then there is slow decline as acid alpha-glucosidase deficiency progresses. An infants tongue may protrude and become enlarged, and swallowing may be difficult. Late-onset acid alpha-glucosidase deficiency may become visible during teenage years. Some of the signs and symptoms include exercise intolerance and progressive weakness of your respiratory muscles in your lower limbs, trunk and diaphragm. Again, as with early-onset acid alpha-glucosidase deficiency, intelligence is not affected. Late-onset acid alpha-glucosidase deficiency may also start when you are an adult. There are several various signs and symptoms that you may have with this ailment. Some of these are:
- ? Respiratory distress, such as having a hard time breathing, especially when you are lying down
- ? Headaches at night
- ? Diminished deep tendon reflexes
- ? Proximal muscle weakness like difficulty in climbing stairs
- ? Generalized muscle wasting and weakness of respiratory muscles in your trunk, lower limbs and diaphragm
- ? Weakness in your arms and legs.