OBJECTIVE To determine upper limb function and associated factors in adults with Duchenne muscular dystrophy. DESIGN Cross-sectional study. SUBJECTS A sample of 70 men with Duchenne muscular dystrophy (age range 20-43 years). METHODS General motor function and, in particular, upper limb distal motor function, were assessed with the Motor Function Measure. Muscle strength and range of moti...

Identification of a systemically acting and universal small molecule therapy for Duchenne muscular dystrophy would be an enormous advance for this condition. Based on evidence gained from studies on mouse genetic models, we have identified tyrosine phosphorylation and degradation of β-dystroglycan as a key event in the aetiology of Duchenne muscular dystrophy. Thus, preventing tyrosine phosphor...

Transgenic gene deletion/over-expression studies have established the cardioprotective role of neuronal nitric oxide synthase (nNOS). However, it remains unclear whether nNOS-mediated heart protection can be translated to gene therapy. In this study, we generated an adeno-associated virus (AAV) nNOS vector and tested its therapeutic efficacy in the aged mdx model of Duchenne cardiomyopathy. A P...

OBJECTIVE Clinical trials involving patients with Duchenne muscular dystrophy are hindered by the lack of suitable objective end points. The purpose of this study was to examine whether muscle lipid infiltration measured with the three-point Dixon MRI technique has value as a marker of disease severity. SUBJECTS AND METHODS Disease severity in nine boys (mean age, 8.6 +/- 2.7 years) with Duch...

BACKGROUND Duchenne muscular dystrophy is a fatal cardiac and skeletal muscle disease resulting from mutations in the dystrophin gene. We have previously demonstrated that a dystrophin-associated protein, sarcospan (SSPN), ameliorated Duchenne muscular dystrophy skeletal muscle degeneration by activating compensatory pathways that regulate muscle cell adhesion (laminin-binding) to the extracell...

Do individual differences in attention to one’s own emotion relate the way individuals interpret other people? For example, although accuracy has been debated, people’s facial expressions are often perceived as providing information about their emotional state. Previous research on mostly looked at how categorize emotions they believe people have or extent which dysregulated information. Howeve...

Guillaume-Benjamin-Amand Duchenne was born 200 years ago in Boulogne-sur-Mer (Pas-de-Calais, France). He studied medicine in Paris and became a physician in 1831. He practiced general medicine in his native town for about 11 years and then returned to Paris to initiate pioneering studies on electrical stimulation of muscles. Duchenne used electricity not only as a therapeutic agent, as it was c...

Purpose Cardiomyopathy is becoming the leading cause of death in patients with Duchenne muscular dystrophy because mechanically assisted lung ventilation and assisted coughing have helped resolve respiratory complications. To clarify cardiopulmonary function, we compared cardiac function between the home ventilator-assisted and non-ventilator-assisted groups. Methods We retrospectively review...

BACKGROUND In order to clarify the treatment of sleep hypoxaemias in Duchenne muscular dystrophy polysomnographic studies were performed on patients at home with the purpose of recruiting them into two clinical therapeutic trials. Observations concerning the nature of sleep hypoxaemia in these patients are presented. METHODS Twenty one non-ambulant patients with Duchenne muscular dystrophy ag...

In this report, we have developed a novel method to identify compounds that rescue the dystrophin-glycoprotein complex (DGC) in patients with Duchenne or Becker muscular dystrophy. Briefly, freshly isolated skeletal muscle biopsies (termed skeletal muscle explants) from patients with Duchenne or Becker muscular dystrophy were maintained under defined cell culture conditions for a 24-h period in...