Muscular dystrophy is one of the rare diseases that cause progressive weakness and degeneration of skeletal muscles used during voluntary movement. There are many different types of muscular dystrophy based on the age of onset, severity and pattern of inheritance, of which duchenne and becker muscular dystrophies being more prevalent. The absence or abnormality of dystrophin, a protein which fo...

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BACKGROUND Cardiomyopathy is reported in Duchenne and Becker muscle dystrophy patients and female carriers. Brain Natriuretic peptide (BNP) is a hormone produced mainly by ventricular cardiomyocytes and its production is up regulated in reaction to increased wall stretching. N-terminal-proBNP (NT-proBNP) has been shown to be a robust laboratory parameter to diagnose and monitor cardiac failure,...

A benign Becker muscular dystrophy (BMD) patient with a marked decrease in dystrophin exhibited remarkable expression of dystrophin-related protein (DRP) on most of the muscle cell membrane. A phenotypic Duchenne muscular dystrophy patient with a truncated form of dystrophin exhibited no DRP expression on the muscle cell membrane except for the neuromuscular junction. Increased DRP expression m...

Sudden cardiac death is a dramatic, undesirable event that can often result from cardiomyopathies. To investigate the validity of the QTdispersion (QTd) in revealing regional heterogeneity of repolarisation, with consequent possibility of sudden death, we evaluated ECGs of patients affected by Becker muscular dystrophy (BMD). This is an X linked recessive muscular dystrophy caused by dystrophin...

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...

BACKGROUND AND OBJECTIVES In Duchenne and Becker muscular dystrophies, cardiac function deteriorates with time resulting in heart failure which is often fatal. We prospectively evaluated the effect of enalapril and carvedilol on left ventricular (LV) dysfunction in middle childhood and adolescent patients with muscular dystrophy. SUBJECTS AND METHODS Twenty-three patients with LV dysfunction ...

BACKGROUND Identifying translatable, non-invasive biomarkers of muscular dystrophy that better reflect the disease pathology than those currently available would aid the development of new therapies, the monitoring of disease progression and the response to therapy. OBJECTIVE The goal of this study was to evaluate a panel of serum protein biomarkers with the potential to specifically detect s...

PLEASE NOTE: Contracts exclude from coverage, among other things, services or procedures that are considered investigational or cosmetic. Providers may bill members for services or procedures that are considered investigational or cosmetic. Providers are encouraged to inform members before rendering such services that the members are likely to be financially responsible for the cost of these se...