Signs of Duchenne
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.

Early steps after diagnose
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.

How To Prevent 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.

Who Gets Duchenne
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.

What Causes Duchenne
One of our largest known genes, dystrophin is an important muscle protein that acts as a kind of glue, holding muscles together by maintaining the structure of muscle cells. Dystrophin is also believed to carry signals between the inside and outside of muscle fibers. Without dystrophin, muscles are unable to operate properly, and eventually suffer progressive damage. The dystrophin gene is carried on the X-chromosome. Boys have only one X-chromosome, making them more susceptible to dystrophin damage, as they lack a second X-chromosome to make up for the damaged gene. When a boy's body is not able to produce any dystrophin at all, he is diagnosed with Duchenne. In Becker muscular dystrophy, a shortened form of dystrophin is generated. Duchenne is usually passed from parent to child, but many cases are the result of random spontaneous genetic mutations, which can occur during any pregnancy. In fact, about one out of every three cases occurs in families with no previous history of Duchenne.

How Duchenne Is Identified
Newborn screening is able to detect Duchenne muscular dystrophy, but there are still many issues that need to be considered by the National Institutes of Health (NIH) before widespread newborn screening will be available. ObservationParents or teachers are often the first to notice the early signs of Duchenne, such as speech delay, enlarged calf muscles, and the inability to keep up with peers. Tests/screensThere are reliable tests to help doctors diagnose a boy with Duchenne. The following tests are typically used to confirm a preliminary diagnosis of Duchenne: Creatine Kinase- Creatine phosphate kinase (also known as CPK or CK) is an enzyme that normally lives inside muscles. Boys with Duchenne often have CK levels 10 to 100 times the normal range. Elevated CK levels indicate muscle damage, although a high CK does not confirm a diagnosis of Duchenne. Genetic Testing- Genetic testing (using blood cells or muscle cells) is the best way to obtain exact genetic information for a conclusive Duchenne diagnosis. The field of genetic testing is rapidly evolving, and there are several types of testing that provide accurate genetic diagnosis.

How Duchenne Progresses
Boys with Duchenne may develop later than children of the same age, for example, speaking, sitting up, and walking. Cardiac problems eventually occur with Duchenne and may start early or during the teenage years. Typically, boys with Duchenne lose their ability to walk between the ages of ten and fourteen. By their late teens, young men lose the strength in their upper bodies, including the ability to move their arms. Also during their teenage years, young men with Duchenne usually need help with breathing at night. Over time, their breathing or respiratory systems weaken, and they require constant support. Young men with Duchenne typically survive into their twenties or early thirties. While there's currently no cure, with informed and timely treatment, boys with Duchenne can maintain their independence, walk, and live longer than ever before. The rate of progression and severity of symptoms are different for each boy, but there are four stages usually associated with Duchenne.

Latest research on Duchenne?
Research is at the heart of advances in treatment and care for Duchenne muscular dystrophy. There are a number of Duchenne organizations active which are soleley dedicated to funding research to cure Duchenne and to improve the quality of life of Duchenne boys. One of these organizations which plays a very important role is Parent Project Muscular Dystrophy (PPMD). Funding Duchenne research is a core objective for PPMD. On their website www.parentprojectmd.org you will find basic information about various research strategies and a comprehensive listing of what research PPMD is funding, as well as recent and archived research findings.