facioscapulohumeral muscular dystrophy (fshd)is characterized by weakness of the facial, scapular muscles  and the dorsiflexors of the foot. severity in this disorder is highly variable. approximately 95% of individuals with fshd phenotype have type 1 fshd, with d4z4 allele of between one and ten repeat units and about 5% have type 2 fshd with mutations in the chromatin modifier smchd1gene whic...

INTRODUCTION Peripheral arterial disease (PAD) refers to chronic arterial disease of atherosclerotic origin, commonly present in the legs, which often grows slowly and insidiously with patients presenting mild symptoms [1]. Intermittent claudication (IC) is a classic manifestation and symptom of PAD [2]. IC refers to the muscular pain and cramping in the lower limbs brought on by muscular activ...

The association of intellectual retardation with childhood muscular dystrophy was noted many years ago. Duchenne (1872) thought that 5 of his 13 cases were retarded. Gowers (1879). on the other hand, found evidence of mental retardation in only 2 of his 24 patients, and he thought that it was not a feature of the muscle disease but that there was probably a higher incidence of muscular dystroph...

Myosin heavy chain isoforms are an important component defining fiber type specific properties in skeletal muscle, such as oxidative versus glycolytic metabolism, rate of contraction, and fatigability. While the molecular mechanisms that underlie specification of the different fiber types are becoming clearer, how this programming becomes disrupted in muscular dystrophy and the functional conse...

Duchenne muscular dystrophy (DMD) is a severe neuromuscular (NM) disease, considered as the most common and rapidly evolutive muscular dystrophy. The incidence of this X-linked hereditary disease is approximately 1/3000 [1] to 3500 [2] male births. DMD is caused by mutation of the dystrophin gene which leads to the absence of dystrophin in muscle tissue [1] Missing dystrophin precludes normal m...

From the point of view of genetic counselling carrier detection is most important in X-linked disorders. Okinaka et al. (1959) were the first to employ the serum level of creatine kinase to detect female carriers of X-linked Duchenne muscular dystrophy. Since then many investigators have confirmed the usefulness and reliability of this test. So far results on over 200 carriers have been reporte...

Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular pathogenesis of spinal muscular atrophy and advances in medical technology have not been matched by similar developments in the care for spinal muscular atrophy patients. Variations in medical practice coupled with differences in family resources...

Phenylketonuria is a rare inborn error of metabolism, which is believed to be associated almost always with some degree of mental retardation. The great majority of those affected are idiots or imbeciles; any with an intelligence quotient over 65 are rare enough to merit reporting (e.g., Low, Armstrong and Carlisle, 1956). Gowers' peripheral muscular dystrophy is also a very unusual disease in ...