The present study examined the natural history of fracture and vitamin D levels in Duchenne muscular dystrophy patients, who are vulnerable to osteoporosis and fractures. Retrospective analysis of a cohort of 48 Duchenne muscular dystrophy patients revealed that 43% of patients experienced 1 fracture. Fracture probabilities at ages 6, 9, 12, and 15 years were 4%, 9%, 31%, and 60% respectively, ...

X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy. XLDCM is caused by mutations of the Duchenne muscular dystrophy (DMD) gene and results in lethal heart failure in individuals between 10 and 20 years. Patients with Becker muscular dystrophy, an allelic disorder, have a milder...

Turner syndrome is a commonly encountered chromosomal disorder affecting females, while Duchenne muscular dystrophy severe X-linked recessive males. Although theoretically possible, very few cases of DMD associated with have been reported. We report an 8 year old girl who presented rare association mosaicism (45X/46XringX) dystrophy.

Background Antisense-mediated exon skipping is a putative treatment for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs), the disrupted DMD reading frame is restored, allowing generation of partially functional dystrophin and conversion of a severe Duchenne into a milder Becker muscular dystrophy phenotype. In vivo studies are mainly performed using 2′-O-methyl phospho...

Using succinylcholine and inhalation agents for patients with Duchenne muscular dystrophy is extremely risky. Those risks include heart failure, cardiac dysrhythmias, rhabdomyolysis and malignant hyperthermia. Even in emergent situations, such as intraoperative bronchospasm, succinylcholine and inhalational agents are often considered contraindicated. Nevertheless, if intraoperative bronchospas...

Duchenne muscular dystrophy (DMD), the commonest X-linked disorder, is a progressive, eventually fatal disease. With the advent of molecular genetics, the Duchenne gene and its protein product, dystrophin, have been characterised. Molecular diagnosis of DMD, identification of carriers and antenatal diagnosis are now possible. We describe here the use, in a Malaysian boy with DMD, of a recent in...

and immunohistochemically proven, Duchenne muscular dystrophy of age 18, 20, and 21 respectively, with a classical Duchenne muscular dystrophy phenotype including progressive (proximal predominant) tetraparesia, joint contractures, cardiac deficit, and respiratory insufficiency. All patients showed initial calf and tongue muscle hypertrophy, and developed later generalized limb muscle atrophy i...

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 ...