Emma Yasinski of Muscular Dystrophy News Today reports that Duchenne Muscular Dystrophy (DMD) Hub is building a network of clinical trial sites and linking them with firms and patients interested in participating in such trials. The organization’s goal is to ensure that every child with DMD has access to experimental therapies. Additionally, the group launched a clinical trial finder that includes resources for patients and families searching for clinical trials. Follow the link to learn more about this effort. Duchenne muscular dystrophy is a severe type of dystrophy. The symptom of muscle weakness usually begins around the age of four in boys and worsens quickly. Typically muscle loss occurs first in the upper legs and pelvis followed by those of the upper arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms.
The disorder is X-linked recessive. About two thirds of cases are inherited from a person’s mother, while one third of cases are due to a new mutation. It is caused by a mutation in the gene for the protein dystrophin. Dystrophin is important to maintain the muscle fiber’s cell membrane. Genetic testing can often make the diagnosis at birth. Those affected also have a high level of creatine kinase in their blood.