Duchenne muscular dystrophy is the most common and severe form of the childhood muscular dystrophies. The disease is typically diagnosed between 3 and 7 years of age and follows a predictable clinical course marked by progressive skeletal muscle weakness with loss of ambulation by 12 years of age. Death occurs in early adulthood secondary to respiratory or cardiac failure. Becker muscular dystr...

Muscular dystrophies are a group of diseases that primarily affect striated muscle and are characterized by the progressive loss of muscle strength and integrity. Major forms of muscular dystrophies are caused by the abnormalities of the dystrophin glycoprotein complex (DGC) that plays crucial roles as a structural unit and scaffolds for signaling molecules at the sarcolemma. α-Dystrobrevin is ...

Muscular dystrophies are a group of genetic disorders that specifically affect skeletal muscle and are characterized by progressive muscle degeneration and weakening. To develop therapies and treatments for these diseases, a better understanding of the molecular basis of muscular dystrophies is required. Thus, identification of causative genes mutated in specific disorders and the study of rele...

objective neuromuscular disorders (diseases of the motor unit), can cause respiratory problems such as impaired cough reflex, chest deformity, recurrent pneumonia and acute respiratory failure; these are the worst most common complications of these diseases and the leading cause of death in such patients (1, 2). their management hence, very often, entails admission to the pediatric intensive ca...

The problem of having offspring with inherited diseases can be resolved in some cases through preimplantation genetic diagnosis (PGD). Spinal Muscular Atrophy (SMA) is one of these diseases. In my short term visit to Guy's Hospital in London, I set up a panel of markers which can be used for preimplantion genetic haplotyping in affected families with this pathology.

Chronic non-infectious diseases are the leading cause of premature death according to WHO data. This review considers evolution studying and modern views domestic foreign authors on role skeletal muscles in maintaining health preventing chronic diseases. An idea regarding nervous reflex influence from working both individual organs body as a whole is presented. The myokines, specific proteins p...