Case: A mother presents with her 13 y/o son with a history of frequent falls, difficulty getting up from a lying or sitting position, trouble jumping, large calf muscles and poor grades in school. Based on the description and symptoms given, the likely diagnosis would be Duchenne’s muscular dystrophy, or DMD; although DMD and its symptoms tend to show up at an earlier age but not always. This type of muscular dystrophy is the most common and severe form of the dystrophinopathic diseases.
Dystrophinopathic diseases are muscular dystrophies that are of a genetic nature caused by a deficiency in the protein dystrophin. This protein is vital to muscle function and contraction. In the case of DMD, there is a mutation in the gene, called the DMD gene, responsible for producing dystrophin causing a deficiency. This gene mutation is X-linked recessive and is inherited. This means that females in the family carry the gene mutation and can pass is on to their offspring male or female, but it is expressed in the males. DMD is usually diagnosed when a young boy shows signs of muscle weakness and there is a family history of the disease. Per Genome (2010), “a muscle biopsy for dystrophin studies can also be done to look for abnormal levels of dystrophin in the muscle.” Genome (2010), also states that “genetic testing on a blood sample for changes in the DMD gene can help establish the diagnosis of Duchenne’s muscular dystrophy without performing a muscle biopsy.” For most individuals, a combination of these testing methods is used to confirm a diagnosis of DMD. There is no known cure for DMD. Treatment involves treating the symptoms and keeping the patient as comfortable as possible. Medline (2012) says that “steroid drugs can slow the loss of muscle strength and may be started when the child is diagnosed or when muscle strength begins to decline.” Other drugs, such as Albuterol, can be used to control breathing problems that occur in the later stages of the disease and drugs to help with heart functions are prescribed to help control any cardio symptoms that may be present. The prognosis for individuals with DMD is bleak; it is a rapidly progressive disease and patients with DMD usually surrender to the disease or complications from it in their 20’s or 30’s, sometimes even earlier. I grew up with a family next door to me in which the two oldest boys had DMD. The disease eventually took both of their lives. The oldest boy did live long enough to graduate from high school but the younger of the two died from complications when he was 16. It was horrible for the family to stand by and watch their sons slowly decline and eventually die. This disease continued to plague their lives when the daughters passed it on to their boys and probably still plagues them today. There have been great strides in the field of research in regards to DMD but as of yet no cure has been found. Hopefully one day, there will be a cure for this devastating, debilitating disease and no more families will be forced to watch their children die right before their eyes.