Rhabdomyolysis is a process of muscle destruction that can present with varying clinical manifestations. In pediatric patients, its main etiology is infectious diseases. We present a previously healthy adolescent who was admitted to our emergency department with a four-day history of myalgia, muscle weakness and dark urine. At presentation, she was dehydrated. Blood analysis revealed acute rena...

The dystroglycan (DG) complex, composed of two subunits αDG and βDG, interacts with the sarcoglycan complex to form the dystrophin-glycoprotein complex. αDG is a cell surface peripheral membrane protein which binds to the components of the extracellular matrix, while βDG is a type I integral membrane protein which anchors αDG to the cell membrane via the N-terminal extracellular domain. Althoug...

The Fourth International Workshop for Glycosylation Defects in Muscular Dystrophies took place on April 1617, 2015 at the Fairfield Inn and Suites Charlotte Uptown, Charlotte, North Carolina. The workshop was hosted by the McColl-Lockwood Laboratory for Muscular Dystrophy Research, and sponsored by the Carolinas HealthCare Foundation, the Muscular Dystrophy Association (MDA), funds raised by “R...

Many neuromuscular disorders affect more than skeletal muscle. Because of the common structural and now more apparent molecular features between skeletal and cardiac muscles, many of the neuromuscular disorders also result in cardiovascular complications. Cardiomyopathy and conduction system diseases are the most frequent extramuscular features seen with many muscular dystrophies. The most comm...

Adeno-associated viral (AAV) vector-mediated gene replacement for the treatment of muscular dystrophy represents a promising therapeutic strategy in modern medicine. One major obstacle in using AAV vectors for in vivo gene delivery is the development of host immune responses to the viral capsid protein and transgene products as evidenced in animal models and human trials for a range of genetic ...

The population of the northeast of Brazil is characterized by high rates of endogamy and disabilities. An epidemiological cross-sectional study using the informant method was conducted in eight communities in the hinterlands of Paraiba to describe genetic and acquired diseases that cause disabilities and to estimate the costs of specialized services such as physiotherapy and the acquisition of ...

Exercise-mediated physical treatment has attracted much recent interest. In particular, swimming is a representative exercise treatment method recommended for patients experiencing muscular and cardiovascular diseases. The present study sought to design a swimming-based exercise treatment management system. A survey questionnaire was completed by participants to assess the prevalence of muscula...