Abstract
Muscular dystrophies are inherited myogenic diseases and considered by progressive muscle wasting and weakness with variable distribution and severity. The essential characteristics of muscular dystrophies are selective involvement, significant wasting and weakness of muscles. The most common and frequent types of muscular dystrophies are Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), Facioscapulohumeral Dystrophy (FSHD) and Limb Girdle Muscular Dystrophy (LGMD). Metabolic disturbance is observed in muscular dystrophy patients (DMD, BMD, FSHD and LGMD-2B). Alteration in the level of metabolites (BCAA, Glu/ Gln, Ace, alanine, glucose, histidine, propionate, tyrosine and fumarate) in dystrophic muscle reflects the alteration in the activity of enzymes. Collectively, these observations propose that there is alteration in the rate of glycolysis, TCA cycle, fatty acid oxidation, gluconeogenesis pathway and protein metabolism (catabolism & anabolism) in the muscular dystrophy patients. Metabolic disturbance, further provide the explanation about the pathophysiology of muscular dystrophy.
Highlights
Muscular dystrophies are inherited myogenic diseases and considered by progressive muscle wasting and weakness with variable distribution and severity
Becker eponym is similar to Duchenne muscular dystrophy, which is caused by mutation in dystrophin gene and it is a milder form of dystrophinopathies, in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms until much later in life
The Adenosine Triphosphate (ATP) required as the constant energy source for the contraction-relaxation cycle of muscle can be generated (1) by glycolysis, using blood glucose or muscle glycogen, (2) by oxidative phosphorylation, (3) from creatine phosphate, and (4) from two molecules of ADP in a reaction catalyzed by adenylyl kinase .The amount of ATP in skeletal muscle is only sufficient to provide energy for contraction for a few seconds, so that ATP must be constantly renewed from one or more of the above sources, depending upon metabolic conditions [24]
Summary
Muscular dystrophies are inherited myogenic diseases and considered by progressive muscle wasting and weakness with variable distribution and severity. Duchenne Muscular Dystrophy (DMD) is distinguished by reducing muscle mass and progressive loss of muscle function in male children This disease is observed by a mutation in a specific gene within the X chromosome (Gene map locus 12q21, Xp21.2) that affords directions for the production of the dystrophin protein, an essential structural constituent of muscle cell [2,3,4,6]. Becker eponym is similar to Duchenne muscular dystrophy, which is caused by mutation in dystrophin gene and it is a milder form of dystrophinopathies, in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms until much later in life. More frequent and common type of Limb Girdle Muscular Dystrophy is dysferlinopathy (LGMD2B) This is an autosomal recessive type and occurred due to deficiency of the sarcolemmal protein dysferlin. The proximodistal weakness is of most frequent occurrence [1,4,18,19,20]
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