The nuclear envelopathies, more frequently known as laminopathies are a rapidly expanding group of human hereditary diseases caused by mutations of genes that encode proteins of the nuclear envelope. The most frequent and best known form is Emery-Dreifuss muscular dystrophy (EDMD), a skeletal myopathy characterized by progressive muscular weakness, joint contractures, and cardiac disease. EMD g...

Pompe disease/glycogen storage disease type II, is a rare, lysosomal storage disorder associated with progressive proximal myopathy, causing a gradual loss of muscular function and respiratory insufficiency. Studies of patients with late-onset Pompe disease have used endpoints such as the 6-minute walking test (6MWT) and forced vital capacity (FVC) to assess muscular and respiratory function du...

Background: Limb girdle muscular dystrophy (LGMD) is a phenotypic expression of a heterogeneous group of diseases and sarcoglycanopathy is one of the causes of LGMD. There is only one study on sarcoglycanopathies in the Indian literature. No data is available from northern India. Materials and Methods: All cases of muscular dystrophies, which were diagnosed in our laboratory in the last six yea...

Mutations in the gene encoding fukutin-related protein (FKRP) cause a spectrum of diseases including congenital muscular dystrophy type 1C (MDC1C), limb girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophies with brain malformations and mental retardation. Whilst these diseases are associated with abnormal dystroglycan processing the cellular consequences of the idiosyncratic...

The concept of the muscular dystrophies as primary degenerative diseases of muscle has been increasingly challenged in recent years (Fenichel et al., 1967; Gardner-Medwin et al., 1967; Munsat et al., 1972; Gallup and Dubowitz, 1973). Considerable support for the neurogenic hypothesis in muscular dystrophy has come from the results obtained using an electrophysiological technique for the estimat...

Neuromuscular Diseases are a heterogeneous molecular, clinical and prognosis group. Progress has been achieved in the understanding and classification of these diseases.Cardiac involvement in neuromuscular diseases namely conduction disorders, ventricular dilatation and dilated cardiomyopathy with its impact on prognosis, is often dissociated from the peripheral myopathy. Therefore, close surve...

Mayana Zatz Mayana Zatz Brazil Mayana Zatz has had a lifelong calling to help those with genetic disorders, mainly progressive muscular dystrophies. She has done so on fronts ranging from investigating the biomolecular bases of such diseases to establishing social institutions dedicated to improving the lives of those who are living with these afflictions. Except for a 2-year stint of postdocto...

Mitogen-Activated Protein Kinase (MAPK) pathway is a signal transduction pathway that functions in a wide range of physiological and pathophysiological cellular events including cell proliferation, differentiation, apoptosis, migration, inflammation, metabolic disorders and diseases. In skeletal muscle, it plays an essential role in muscle fiber specialization, muscle mass maintenance, damage i...

In a paper dealing with diverticular disease, Morson (1963) stated that four out of 155 specimens of sigmoid colon removed at St. Mark's Hospital, London, for 'diverticulitis' showed an increase of the muscular thickness of the wall without any detectable diverticula. There were no signs of inflammation in the wall, and the muscular abnormality could be compared to that seen in patients with di...

Limb-girdle muscular dystrophies (LGMDs) represent a group of muscle diseases due to monogenic mutations encoding proteins that are defective for heterozygous and homozygous prevalent in certain regions. Advances knowledge their pathophysiology have shed light on these rare diseases, which were, until recently, difficult diagnose. This paper has described the process diagnosis autosomal recessi...