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Keegan's neurology update

Posted Aug 14 2009 6:48pm
Heard from the nurse. They dont think the headaches and leg pain are from the Chiari. They think it is a muscle quality issue. They are looking at Metabolic Myopathy

~Metabolic myopathies refer to a group of hereditary muscle disorders caused by specific enzymatic defects due to defective genes. Metabolic myopathies are heterogeneous conditions that have common abnormalities of muscle energy metabolism that result in skeletal muscle dysfunction. Most recognized metabolic myopathies are considered primary inborn errors of metabolism and are associated with known or postulated enzymatic defects that affect the ability of muscle fibers to maintain adequate energy and adenosine triphosphate (ATP) concentrations. Traditionally, these diseases are grouped into abnormalities of glycogen, lipid, purine, or mitochondrial biochemistry.

They are still waiting on a few more results, Plus she wants him to have a few more labs drawn by Annika (Our Ped.). IF the tests all come back negitive, then she wants to do an electrical stimulation test done on his leg muscles. They poke about 30 needles in his legs and send the electrical stim through to see how the muscle react ~~ WITH sedation!! So.....It's is not becoming an easy issue either!!! SHIT!!
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