If a boy has a combination of the traits listed below, he should be tested for Duchenne: Has a hard time lifting his head or has a weak neck Is not walking by 15 months Has a hard time walking, running, or climbingstairs Is not speaking as well as other kids his age Needs help getting up from the floor or walks his hands up his legs in order to stand Has calves that look bigger than normal (pseudohypertophy) Walks with his legs apart Walks on his toes and waddles Walks with his chest pointed out (or has a sway back, saddle back, or hollow back)These are the common signs of Duchenne.
Reactions to a diagnosis of Duchenne differ from person to person, but it is a challenge for all who face it. Keeping a solid support system in place, and facing fears with courage and optimism, can reduce anxiety and stress. One of the most important things you can do for yourself and your child is to become well informed about: Duchenne causes, symptoms, and progression Treatment and care options Latest research and testing opportunities Stay informed by talking to your doctor and using PPMD as a resource for information, news, and connecting to families worldwide who are fighting Duchenne.
Unfortunately, once a child is born with Duchenne, its progression cannot be stopped. However, once there is a known case of Duchenne within a family, it is possible to offer prenatal diagnoses in future pregnancies (for both the mother of the diagnosed child and for other women in the family) through genetic testing. Genetic Testing Genetic testing refers to analysis of the gene itself, and it identifies the specific disease causing mutation. Genetic testing can also predict a person's risk of developing a disease. For expectant mothers, genetic studies performed during pregnancy can detect Duchenne with about 95% accuracy. Doctors may make recommendations about childbearing options.
Duchenne and Becker muscular dystrophies are not specific to any one group, crossing all cultures and races. What sets these two disorders apart from other muscular dystrophies is that they occur almost exclusivelyin young men, making them gender-linked disorders. The dystrophin gene is carried on the X-chromosome. Young men have one each of the X- and Y-chromosomes, whereas girls have two X-chromosomes. Young menare therefore at greater risk of inheriting disorders caused by damaged genes on the X-chromosome, since they lack a second X-chromosome to 'make up' for the damaged gene.
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