Duchenne Muscular Dystrophy
Genetic diseases are inherited disorders reflecting gene mutations or abnormalities in chromosome structure or number and resulting in functional or anatomical changes. The frequency of chromosome abnormalities in the United States is 1 in about 200 live births. Approximately 50-60 percent of all recognized spontaneous abortions are chromosomally abnormal. Six in every 100 stillbirths have chromosome abnormalities, and 6 in every 100 neonatal deaths are associated with chromosome defects (www.geneticalliance.org). Gene transmission, or heredity, in families is most often identified by the function of an altered gene. Genetic diseases can be inherited in a manner similar to that of normal traits. These diseases include single-gene disorders that are autosomal dominant, sex-linked dominant, autosomal recessive, or sex- linked recessive. They also include multifactorial disorders, resulting from more than one gene often interacting with environmental factors. In most cases of sex-linked recessive traits, the mother is heterozygous but unaffected-- she is a carrier. She has a 50 percent chance of producing affected sons through transmission of an X chromosome carrying the gene mutation. H
gene can be identified by this test, but this is generally of more use in genetic counseling for the family than in the initial diagnosis(www.mdac.ca). genes. Each gene is a string of the chemical DNA and is the "code" for a protein. Although Muscular Dystrophy is generally inherited, in some cases no family history of the disease may exist. A doctor makes a diagnosis by evaluating the patient's medical history and by performing a thorough physical examination.
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