Duchenne muscular dystrophy
Duchenne muscular dystrophy Causes
Duchenne muscular dystrophy is caused by a mutation of the dystrophin gene whose protein product is responsible for the connection of muscle fibers to the extracellular matrix through a protein complex containing many subunits. The absence or lack of dystrophin allows the excess amount of calcium to be able to penetrate the sarcolemma (cell membrane). In a highly complex cascading process that typically involves a number of pathways is not clearly comprtehensible, the increased level of oxidative stress within the cell will damage the sarcolemma, which will eventually result in the death of the cell. Muscle fibers undergo necrosis and are ultimately replaced with adipose and connective tissue
Duchenne muscular dystrophy Definition
is a form of muscular dystrophy that is characterized by decreasing muscle mass and progressive loss of muscle function in male children
Duchenne muscular dystrophy Diagnosis
When DMD is initially detected after examination of the patient. doctors would usually useCPK or the creatine phosphokinase to be able to test and determine the extent of muscles damage. This test would measure the amount of CPK in the blood. In DMD patients CPK leaks out of specific muscle cell present in the bloodstream, so a high level (nearly 50 to 100 times more) confirms that there is muscle damage. Affected people may have a value of as high as 15,000 to as much as 35,000iu/l (normal = 60iu/l).
Duchenne muscular dystrophy Symptoms and Signs
Usually symptoms show in male before age 6 and may happen in early infancy. Progressive weakness of the muscle legs as well as the pelvis with a loss of muscle mass is noticed and latter spreads to the arms, neck, and other areas. Early signs may include increased calf muscles (pseudohypertrophy) size, low strength and endurance levels, and difficulties in standing up and walking on stairs. As the condition progresses, muscle tissue experiences wasting and fibrosis, and is latter replaced by fat and connective tissue. By age 10, braces may be required for walking, and most patients are limitted to a wheelchair by age 12. Late stage symptoms include the abnormal development of the bone that often leads to some marked skeletal deformities including the curvature of the patient's spine, progressive loss of movement that will eventually lead to complete paralysis, along with an increase in the difficulty in breathing. Intellectual retardation may be present but does not usually progress as the child develops and ages. The condition is considered terminal and death will naturally occur before the patient reaches the age of 30.
Duchenne muscular dystrophy Treatment
There is no known treatment for the disease Duchenne muscular dystrophy. However, there have been reports on the recent research in stem-cell which has been showing promising vectors that could possibly replace the damaged muscle tissue. Treatment availabale today are generally aimed at manage and control of symptoms of the disease to maximize and enhance the quality of life, and include the following.