Muscular Dystrophies

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There are more than 30 different genetic diseases that are classified as muscular dystrophies. Muscular dystrophy is the weakness and degeneration of the skeletal muscles that often control movement. In muscular dystrophy, abnormal genes, also called mutations, interfere with the production of the proteins that are needed to form healthy muscle in the body. There are many kinds of muscular dystrophies and symptoms are more than likely begin during childhood. With different kinds of muscular dystrophy, comes many different symptoms and the disease is different for everyone that has it. Symptoms of muscle dystrophy vary with the different types of the disease. The symptoms of each type appear at different ages and can also be in different muscle groups. Almost half of the amount of people that develop muscle dystrophy, have the Duchenne muscular dystrophy. This type of disease mostly affects boys but girls can be carriers too. For one-third of the boys diagnosed with Duchenne muscular dystrophy, there isn’t any family history of the disease. This is because the gene that is involved can have an abnormal charge or a mutation. With this type, the ages it affects are children between that ages of two and three. The symptoms of this type of Duchenne muscular dystrophy include frequent falls, difficulty getting up from lying or sitting position, having trouble running or jumping, waddling gait, walking on their toes, large calf muscles, muscles pain and stiffness, and learning disabilities. The next type of muscular dystrophy is Becker muscular dystrophy. The symptoms of this type are very similar to those of the Duchenne muscular dystrophy. With this type, it is milder and progresses more slowly. Symptoms don’t usually begin until the teenage years but don’t occur until the mid-20s or even later than that. There are many other types but Duchenne muscular dystrophy and Becker muscular dystrophy are the most common. The other types of muscular dystrophy are defined by specific symptoms or where the disease is occurring. Myotonic, also called the Steinert’s disease, is defined by the inability to relax muscles at will following contractions. This type is most common in adults and the facial and neck muscles are usually the first to be affected. Facioscapulohumeral or FSHD is another type of muscular dystrophy; this disease shows muscle weakness that begins in the face and shoulders. People with FSHD have their shoulder blades stick out like wings when they raise his or her arms. This type occurs in the teen years but can also occur in childhood or as late as 40 years old. A type of muscular dystrophy that affects boys and girls at birth or before the age of two is Congenital muscular dystrophy. Some forms of this type progresses slowly and have mild disability; other forms progress rapidly and can cause severe impairment. The last type that …show more content…
Not until the 1980s, little to nothing was known about the causes of muscular dystrophy. Around 1986 was when researchers identified a gene on the X chromosome that if mutated, it would cause both Duchenne and Becker muscular dystrophies. Genes in a body contain codes for proteins which are very important in life. In the year of 1987, the proteins that is associated with the gene that causes muscular dystrophies, was identified and also named dystrophin. Muscular dystrophy occurs because the gene that is mutated doesn’t produce any functional dystrophin. Patients with Becker muscular dystrophy have genes that partially function that make dystrophin. This protects the patient’s muscles from degenerating as quickly as Duchenne muscular …show more content…
When a signal is sent from the brain through the spinal cord and peripheral nerves to the neurotransmitter junction, the muscle is activated. When that happens, it releases chemical acetylcholine and triggers a series of events that cause muscles to contract. The muscle fiber membrane contains a group of proteins that are called dystrophinglycoprotein complex. This prevents damage when muscle fibers contract and relax. Muscular dystrophy can affect many body tissues and organs but mostly affects the integrity of muscle fibers. Muscle fiber material is broken down and destroyed by scavenger cells in muscular dystrophy. Overall, muscle strength and muscle and tendon reflexes are usually lessened or lost due to replacement of muscle tissue and

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