End stage dilated cardiomyopathy (DCM) is currently one of the most challenging elements in the management of patients affected by Duchenne muscular dystrophy [1]. DCM is a complication of Duchenne muscular dystrophy, and leads to advanced heart failure and premature death [2,3]. Until the last decade, cardiomyopathy inDuchennemuscular dystrophy accounted for only 20% of deaths because respirat...

how to cite this article: barzegar m, habibi p, bonyady m, topchizadeh v, shiva sh. exon deletion pattern in duchene muscular dystrophy in north west of iran. iran j child neurol. 2015 winter; 9(1): 42-48. abstract objective duchene and becker muscular dystrophy (dmd/ bmd) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. the frequency and distri...

A 3-year-old, male domestic shorthair cat was presented with signs of progressive muscular hypertrophy. A diagnosis of hypertrophic feline muscular dystrophy was made on the basis of the typical clinical presentation in cats and on the basis of the results of medical imaging, the electrodiagnostics and the findings on histopathology and immunohistochemistry of muscle biopsies. The cat was initi...

Duchenne muscular dystrophy (DMD) is an recessive X-linked mediated, musculoskeletal disorder that affects only males. It is the most common and severe form of muscular dystrophy where there is failure to manufacture dystrophin. Clinically, it is characterized by progressive muscle wasting eventually leading to premature death. This case report describes the genetic, oral and systemic findings ...

Background Duchenne (DMD) and Becker (BMD) muscular dystrophy (MD) are characterized by progressive peripheral muscular damage. The cardiac involvement is high and often complicated by severe heart failure and high mortality. Cardiovascular magnetic resonance (CMR) can identify early stages of cardiomyopathy, as presence of myocardial fibrosis (MF). Several studies have shown negative correlati...

this study determines the value of linkage analysis using six rflp markers for carrier detection and prenatal diagnosis in familial dmd/bmd cases and their family members for the first time in the iranian population. we studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of dmd or bmd. subsequently, we determined the rate of heterozygosity for six intragenic rflp marker...

Objective Heart failure is currently the most serious complication of muscular dystrophy. The transient receptor potential cation channel, subfamily V, member 2 (TRPV2) is a stretch-sensitive Ca channel. In damaged myocytes or cardiomyocytes, TRPV2 translocates to the cytoplasmic membrane and enhances Ca influx, triggering cell damage. Evidence suggests that the inhibition of TRPV2 may be a new...

Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this disease was only supportive. Herein we describe an adult patient who presented with worsening weaknes...

Sudden onset of tonic muscular contraction and loss of consciousness is most often caused by an epileptic seizure. In a seizure, however, the tonic muscular contraction is usually followed by interrupted jerking movements. When the motor pattern remains one of tonic contraction, a different underlying mechanism implying a separate differential diagnosis and therapeutic plan must be considered. ...