RATIONALE Genetic mutations in a number of putative glycosyltransferases lead to the loss of glycosylation of dystroglycan and loss of its laminin-binding activity in genetic forms of human muscular dystrophy. Human patients and glycosylation defective myd mice develop cardiomyopathy with loss of dystroglycan matrix receptor function in both striated and smooth muscle. OBJECTIVE To determine ...

Muscular dystrophy and myasthenia gravis are two neuromuscular disorders that can involve significant cardiovascular complications. The frequency and severity of cardiac pathology varies widely among the muscular dystrophies. In some, it is nearly inevitable and requires regular evaluation. In others, assessment of cardiac function can be more symptom-driven. On-ly a minority of myasthenic pati...

background: surface electromyography (semg) of muscles is a non-invasive tool that can be helpful in the assessment of muscle function and some motor control evaluations. a loss of force, known as muscle fatigue is accompanied by changes in muscle electrical activity. one of the most commonly used surface emg parameters which reflects paraspinal muscle fatigue during different tasks and positio...

Two patients with peroneal muscular atrophy who also had complete heart block are reported. The pathogenesis of heart block in one of these patients was investigated by left ventricular volume analysis which showed a normal ejection fraction, indicating intact left ventricular function. This patient in addition had a normal coronary arteriogram. These findings suggest that heart block in patien...

The slope of the curve relating integrated electromyographic activity of masseter muscle to biting force, the latency of the jaw-jerk reflex, and masticatory performance wee estimated in patients with Duchenne type of progressive muscular dystrophy before and during therapeutic exercise of the somatogenc system. The slope and latency were slightly decreased, and masticatory performance was incr...

Spinal muscular atrophy is distinct among neurodegenerative conditions of the motor neuron, with onset in developing and maturing patients. Furthermore, the rate of degeneration appears to slow over time, at least in the milder forms. To investigate disease pathophysiology and potential adaptations, the present study utilized axonal excitability studies to provide insights into axonal biophysic...

Attenuated functional exercise capacity in elderly and diseased populations is a common problem, and stems primarily from physical inactivity. Decreased function and exercise capacity can be restored by maintaining muscular strength and mass, which are key factors in an independent and healthy life. Resistance exercise has been used to prevent muscle loss and improve muscular strength and mass....

abstract objective autosomal recessive spinal muscular atrophy (sma) is, after cystic fibrosis, the second most common fatal monogenic disorder and the second most common hereditary neuromuscular disease after duchenne dystrophy. the disease is characterized by degeneration of anterior horn cells leading to progressive paralysis with muscular atrophy. depending on the clinical type (werdnig- ho...

duchenne muscular dystrophy (dmd) and the milder allelic becker muscular dystrophy (bmd) are x-linked disorders. both dmd & bmd result from heterogenous mutation in the dystrophin gene and in about 65% of the cases one or more exons of the gene are deleted or duplicated. one third of cases arise from new mutation and the rest are familial. to analyze the prevalence of deletion in iranian patien...

Background: Limb-girdle muscular dystrophy 2E (LGMD 2E), recently renamed as autosomal recessive limb-girdle dystrophy-4 (LGMDR4), is characterized by the lack of beta-sarcoglycan, normally expressed in skeletal muscles and cardiomyocytes. We hypothesized that progressive respiratory left ventricular (LV) failure LGMDR4 could be associated with age interrelated phenomena disease's natural histo...