Muscular dystrophy is defined as a group of genetic diseases in which muscle fibers are unusually susceptible to damage. These damaged muscle become progressively weaker making mobility progressively more difficult and a wheelchair becomes more of a necessity. The most common form of muscular dystrophy is Duchenne muscular dystrophy (DMD). About half of all cases are Duchenne. This type of muscular dystrophy is most commonly occurring in boys. There are many other types of muscular dystrophy such as Becker, myotonic, limb-girdle, congenital, and Oculopharyngeal (Mayo Clinic).
The sign that is the same for all types of muscular dystrophy is progressive muscle weakness. In Duchenne muscular dystrophy signs and symptoms surface when the child begins to walk. Signs and symptoms of Duchenne muscular dystrophy are frequent falls, difficulty getting up from lying or sitting position, trouble running or jumping, waddling gait, large calf muscles, and learning disabilities (Mayo Clinic). In the typical case of Duchenne symptoms appear between 1 and 6, with a steady decline of muscle strength after that. Braces are usually requires for walking around age 10, and the child is wheelchair bound by age 12. DMD is caused by a mutation to the DMD gene, that gene is the second largest gene to date. It encodes the muscle protein, dystrophin. Those with DMD do not make the dystrophin protein in their muscles. DMD is inherited and is most common in males with a family history of the disease. (National Human Genome Research Institute).
When it comes to diagnosing DMD there are multiple diagnostic tests. A diagnosis can be made when a boy has progressive muscle weakness, symptoms appear before 5, and there are extremely elevated levels of creatine kinase blood levels. Another way a diagnosis can be made is by a muscle biopsy, the muscle will be looked at for abnormal levels of dystrophin in the muscle, an absence of dystrophin leads to a diagnosis of DMD. Genetic testing can...