Compared to matched controls, 17 patients with Duchenne muscular dystrophy showed decreased insulin binding to monocytes due to decreased receptor concentration. These patients showed no signs of altered glucose metabolism and retrospective analysis of the clinical records of a further 56 such patients revealed no modification in carbohydrate metabolism. These data suggest that reduced insulin ...

Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease severity in the individual patient. In the chronic inflammation that characterizes Duchenne muscle, cytokines and chemokines are considered essential ...

Duchenne muscular dystrophy affects mainly young boys and is usually inherited as an X-linked recessive trait. The disease begins in infancy or early childhood and is characterized by weakness of the lower limbs and pelvic girdle musculature almost invariably associated with swollen calves ('pseudohypertrophy'). The weakness gradually progresses and ultimately the child becomes confined to a wh...

This chapter focuses on the gene therapy advances made in relation to Duchenne muscular dystrophy and discusses principles and perspectives of strategies currently being developed. The chapter explains the genetic mutations that cause Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) and the differences between the two are discussed in relation to disease severity. The histo...

muscle groups. Recently, high resolution ultrasound scanning has been used to assess diaBackground – There is little information on the morphometric characteristics of phragm thickness during tidal breathing and during relaxation in normal subjects. 6 Using the diaphragm in patients with Duchenne muscular dystrophy. B mode ultrasonography we have imaged the costal portion of the diaphragm both ...

The use of serum creatine kinase (SCK) estimations in the detection of female carriers of the severe (Duchenne-type) X-linked muscular dystrophy was first introduced by Okinaka and his colleagues in 1959, and since then the value of this test has been confirmed by many others (Dreyfus and Schapira, 1961; Hughes, 1963; Richterich, et al, 1963; Emery, 1965; Rotthauwe and Kowalewski, 1965; Wilson,...

Duchenne muscular dystrophy is a severe and currently incurable progressive neuromuscular condition, caused by mutations in the DMD gene that result in the inability to produce dystrophin. Lack of dystrophin leads to loss of muscle fibres and a reduction in muscle mass and function. There is evidence from dystrophin-deficient mouse models that increasing levels of utrophin at the muscle fibre s...

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...

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...