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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 wwwgeneticallianceorg 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 page 2 an X chromosome carrying the gene mutation Her daughters have a 50 percent chance of being heterozygous like the mother If an affected male is able to reproduce and marries a homozygous normal female none of his children will be affected but all of his daughters will be heterozygous for the sex-linked gene His sons do not inherit the disease Emery and Emery 104 Muscular dystrophy MD refers to a group of genetic diseases some of which are sex-linked which are characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement The word dystrophy comes from Latin and Greek roots meaning faulty nutrition wwwmdausaorg When doctors first began describing muscle diseases in the 19th century they had few tools other than their own eyes Muscles in many diseases appeared to be wasting away and the doctors theorized that they somehow werent being properly nourished Today we
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