Pathology definition - Muscular Dystrophy
Muscular dystrophy
Muscular dystrophy is divided into Duchenne muscular dystrophy and Becker muscular dystrophy. Muscular dystrophy mostly affect male .
Duchenne muscular dystrophy is an X linked recessive disorders which result in the absence of the synthesis of the dystrophin due to deletion of the gene which coded for the production of dystrophin. Becker muscular dystrophy may lead to mutation of the dystrophin gene which reduced the synthesis of the dystrophin.
Patient with muscular dystrophy may present with symptoms and signs such as weakness of the proximal muscle of the extremities which finally lead to immobilization and replacement of the muscle with fatty tissue and fibrous tissue / pseudohypertrophy of the calves. Patient with Becker muscular dystrophy may present with similar signs and symptoms but clinically less severe than Duchenne muscular dystrophy.
What is dystrophin? Dystrophin involves in maintaining the integrity of the membrane of the myocyte. There will be destruction of the muscle fiber in case of absence of the dystrophin.In muscular dystrophy, there will be necrosis and degeneration of the muscle fibers which lead to replacement of the muscle fiber with fatty tissue.There will be raised in serum creatine kinase.
Patient may present with positive Gower’s maneuver. In this case, the patient typically will use the arm to raise from crouching position.
The common cause of mortality due to muscular dystrophy is respiratory failure due to necrosis and degeneration of the respiratory muscle.
Muscular dystrophy is divided into Duchenne muscular dystrophy and Becker muscular dystrophy. Muscular dystrophy mostly affect male .
Duchenne muscular dystrophy is an X linked recessive disorders which result in the absence of the synthesis of the dystrophin due to deletion of the gene which coded for the production of dystrophin. Becker muscular dystrophy may lead to mutation of the dystrophin gene which reduced the synthesis of the dystrophin.
Patient with muscular dystrophy may present with symptoms and signs such as weakness of the proximal muscle of the extremities which finally lead to immobilization and replacement of the muscle with fatty tissue and fibrous tissue / pseudohypertrophy of the calves. Patient with Becker muscular dystrophy may present with similar signs and symptoms but clinically less severe than Duchenne muscular dystrophy.
What is dystrophin? Dystrophin involves in maintaining the integrity of the membrane of the myocyte. There will be destruction of the muscle fiber in case of absence of the dystrophin.In muscular dystrophy, there will be necrosis and degeneration of the muscle fibers which lead to replacement of the muscle fiber with fatty tissue.There will be raised in serum creatine kinase.
Patient may present with positive Gower’s maneuver. In this case, the patient typically will use the arm to raise from crouching position.
The common cause of mortality due to muscular dystrophy is respiratory failure due to necrosis and degeneration of the respiratory muscle.
