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Description of Muscular Dystrophy:
Muscular dystrophies refer to a group of inherited genetic disorders that causes abnormal muscle wasting and weakness. This disease is an incurable, at times fatal disease that primarily affects muscle tissue and progressively kills voluntary muscle fibers (Corrick, 1992). There are numerous different types of muscular dystrophy, nine of which are the most common ones that are classified based on the level of severity and the distribution of body muscles predominantly affected in various dystrophies (Emery, 2000). For many years patients diagnosed with muscular dystrophy were unable to receive the appropriate treatment until the technique known as positional cloning was introduced in the 1970s to trace the basic biochemical defect in the disorder by identifying the mutant gene itself (Emery & Emery, 1995), leading to discoveries for eradicating this disease and for the possible future treatment (Buller et al, 1989).
Types of Muscular Dystrophy:
The varying types of MDs that cause different symptoms show that different genes are responsible for each different type of muscular dystrophy. The most common dystrophies are Duchenne MD (DMD), myotonic dystrophy (DM) and facioscapulohumeral MD (Shannon, 2004). Some of the dystrophies, for example LGMD, FSHD, and distal MD have different forms of the disorders that are also caused by different genetic defects.
Duchenne MD and Becker MD:
Amongst all lethal neuromuscular genetic diseases, DMD is known to have the highest occurrence rate that leads to death by the third decade of the affected individual's life (Kakulas, Mastaglia 1990), and is the most frequent life-threatening heritable childhood disease (V.Deutekom, V.Ommen 2003). This lethal form of muscular dystrophy is most closely linked to Becker MD (BMD), although BMD is much milder and less common. This similarity is due to the X-linked recessive inheritance of both DMD and BMD (Gardner-Medwin 1992) and the allelic mutations occurring on the same gene locus (Kakulas, Mastaglia 1990). The dystrophin gene is the largest gene in humans that encodes proteins, thereby causing the gene to be more prone to recombination and rearrangements that cause mutations (Van Deutekom, Van Ommen, 2003). Defect in the production of dystrophin results in muscle fiber damage and membrane leakage (V.Deutekom, V.Ommen 2003) causing serum creatine kinase, a muscle enzyme that produces energy for muscle contraction (Emery, 2000), to seep out of the damaged
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