Duchenne Muscular Dystrophy (DMD) is named after the French neurologist Guillaume Benjamin Amand Duchenne who first described the disease. It is one of nine types of muscular dystrophy. Muscular dystrophy is characterized by progressive muscle degeneration (Muscular Dystrophy Association). Muscle weakness appears in early childhood and progressively worsens; children with DMD are generally wheel-chair dependent by adolescence. Along with the DMD affecting the skeletal system, the cardiac muscles are also affected and result in cardiomyopathy. Cardiomyopathy is a heart disease where weak cardiac muscle prevents the heart from pumping blood efficiently. Typically, males with DMD live into their twenties before the cardiac muscles can no longer
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Creatine kinase is released by damaged muscle and finding extremely high levels of this enzyme suggests that the muscle weakness is a result of the muscles themselves, rather than a neurological issue. After the CK levels provide evidence that there is abnormal degradation of muscle cells, genetic testing is usually performed to analyze the DNA of one 's cells to determine whether or not there is a mutation in the dystrophin gene. A muscle biopsy, the surgical removal of a small sample of muscle from the patient, can give detailed information in order to, not only distinguish muscular dystrophies from other disorders, but to determine which form of muscular dystrophy the patient exhibits (Muscular Dystrophy Association). This diagnoses process is thorough. However, according to Dr. Flanagan in a study published by the American Journal of Human Genetics, "Before, many DMD diagnoses required a muscle biopsy, which is invasive and involves some risks. Even then, some mutations were missed because of limitations with previous tests." Recently, a more efficient diagnostic test is being introduced; Single Condition Amplification/Internal Primer sequencing (SCAIP) allows doctors to sequence the entire dystrophin gene, which is the largest human gene known. This test is a simple blood test that catch approximately 98% of exon deletions that cause the most common fatal X-linked recessive disorder
Creatine kinase is released by damaged muscle and finding extremely high levels of this enzyme suggests that the muscle weakness is a result of the muscles themselves, rather than a neurological issue. After the CK levels provide evidence that there is abnormal degradation of muscle cells, genetic testing is usually performed to analyze the DNA of one 's cells to determine whether or not there is a mutation in the dystrophin gene. A muscle biopsy, the surgical removal of a small sample of muscle from the patient, can give detailed information in order to, not only distinguish muscular dystrophies from other disorders, but to determine which form of muscular dystrophy the patient exhibits (Muscular Dystrophy Association). This diagnoses process is thorough. However, according to Dr. Flanagan in a study published by the American Journal of Human Genetics, "Before, many DMD diagnoses required a muscle biopsy, which is invasive and involves some risks. Even then, some mutations were missed because of limitations with previous tests." Recently, a more efficient diagnostic test is being introduced; Single Condition Amplification/Internal Primer sequencing (SCAIP) allows doctors to sequence the entire dystrophin gene, which is the largest human gene known. This test is a simple blood test that catch approximately 98% of exon deletions that cause the most common fatal X-linked recessive disorder