Limb-girdle muscular dystrophy

Limb girdle muscular dystrophies (LGMD) is a general term used to describe a diverse cluster of neuromuscular disorders and they are usually being inherited. They are caused by mutations of certain genes which results in respective defective proteins being generated. These defective proteins are usually involved in the direct or indirect stabilizing of the membrane of the muscle. This disorder involves symptoms like primary or secondary weakening of limb and axial muscles, muscle wasting and joint contractures (a loss of a variety of motion in a joint due to numerous alterations in connective tissue and muscle during immobilizing period) Though they are inherited, most of them becomes apparent during adulthood. There are two general types of LGMD namely, LGMD1 and LGMD2. LGMD1 is being caused when 1 abnormal gene copy is present whereas LGMD2 is caused when 2 abnormal gene copies are present. There are many types of LGMD and one of them is LGMD 2B. Figure 1 shows the distribution of main muscle weakening found in various types of dystrophy conditions through the shaded areas. C-limb-girdle dystrophy. LGMD2B is resulted where there is a mutation in dysferlin gene encoding protein. In this disorder, tissues are being…

Nowadays we hear more about successful stories of individuals who were able to overcome the inequality and injustice placed by society. Many have become successful leaders within our community who advocate for equality, dignity and respect. This is the story of Angelica, a 22-year-old Mexican American female who is a student at San Diego State University in her junior year who is pursuing a bachelor's degree in social work. Angelica states that growing up she had to face many difficult…

specific types of Muscular Dystrophy only affect men. For instance the Duchenne is most commonly known for affecting young children, but Duchenne muscular dystrophy is also know to only affect makes. This type of condition and reductions the muscle in mass and causes it to diminish and become weaker and weaker. This disorder is know to have significant affects on young boy, and by the age of 12 they will require the use of a wheel hair. With time the limbs and spin will become considerably…

Muscular dystrophy happened when there is abnormality in the genetic code for specific muscle proteins. One of the proteins that involved called dystrophin. Dystropin is a key structural element in muscle fibre. When there is mutation in the genes that function for producing dystrophin, it will result in low level of dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damage. Then it will result in weakness and degeneration of muscle which called as…

Muscular dystrophy is a group of noncommunicable diseases that is passed down through heredity lines. Noncommunicable diseases are diseases that developed in humans without other species interference and that cannot be passed between people. Muscular dystrophy can be broken up into nine major forms: Myotonic, Duchenne, Becker, Limb-girdle, Facioscapulohumeral, congenital, Oculopharyngeal, Distal, and Emery-Dreifuss. Muscular dystrophy can appear at any time in one’s life, typically in infancy or…

caregivers formulate a plan of treating the patient and improving the patient’s quality of care. The first step for a diagnosis is a thorough physical examination by a doctor. Early and overall physical signs of MD will vary due to which specific dystrophy is present. The simplest early physical finding is generalized weakness that starts proximal and spreads distally. An exception is made for a few rare forms of dystrophy such as fasioscapulohumeral dystrophy (FSHD), where symptoms always start…

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…

Muscular dystrophy is genetic disorder that is caused by a mutation in the genes, causing muscle mass to become weaker and degenerated. This is a consequence on the genes with mutation that have a missing protein responsible for muscle health. There are over forty types of muscular dystrophy and each varies in characteristics and severity. Duchenne muscular dystrophy is the most common type and only boys are affected by it. Characteristics can vary depending on the type of muscular dystrophy,…

his dad. Jimmy and his brother had been close since his brother was born. They only visited each other on the weekends. Because he thought his parents didn’t understand him, he started to be estranged from his parents. This made Jimmy become withdrawn. Separating siblings in the divorce is a kind of lacks of family support, and that is the usual one. Those kids used to talk to their siblings, play with them, and live with them. After they separate from their siblings, they always feel lonely.…

almost 8 billion the issue becomes one of resource management as well. It is one thing to practice conservation, but as the population grows so too does the demand” (Rinkesh). Besides coal, gas, and oil, the other seven are usually overlooked. Coal, gas, and oil are very limited and used in the first world countries for everyday use. In the 1960s this problem was just starting to hit Americans. In the 1960s the industrial side of things was not popular, the 1960s are known for pop culture.…