Limb Girdle Muscular Dystrophy

Muscular dystrophy is a degenerating disease, in which the skeletal muscles degenerate, lose their strength, and cause increasing disability and deformity. Muscles attached to the bones through tendons are responsible for movement in the human body, however, in muscular dystrophy the muscles become progressively weak. As the muscle fibers

Credibility Statement: According to the "Muscular Dystrophies" by Harvey B.Sarnat in Nelson Textbook of Pediatrics, 20th Ed 2016, "A muscular dystrophy is distinguished from all other neuromuscular diseases by 4 obligatory criteria: It is a primary myopathy, it has a genetic basis,

Duchenne Muscular Dystrophy is a disease which causes skeletal muscle to waste away, this wasting of muscle is caused by a mutation of the dystrophin gene (Meregalli et al., 2013, p. 4251).

Duchenne muscular Dystrophy (DMD) is the most common out of nine types of muscular dystrophy. This genetic disorder causes progressive muscular weakness, and deterioration due to the lack of a protein called Dystrophin. This protein keeps the muscles in tack, so when it's missing, the muscles slowly break down. (MDA, 2015)

According to Green (2014) the (DMD) gene for dystrophin, which is a protein that is present in muscles, is the second largest gene. A deficiency of dystrophin results in the damage of muscle fibres, resulting in a loss of muscle functioning. This disorder affects mainly the legs and pelvic region of the body. However it could also affect the heart, the respiratory system, as well as rarely the brain. Duchenne

Usually once atrophy of the hip musculature is noticed, shoulder weakness in noticed also. Those inflicted with DMD will also have trouble with overhead activates, and keeping the shoulders flexed for long periods of time. Scott M. Giles actually lists the following muscles affected by DMD: “Shoulder girdle musculature, pectorals, deltoids, rectus abdominals, gluteals, hamstrings, and calf muscles” 6. DMD patients continue to lose control and strength in their lower extremity musculature and eventually have so much trouble walking they are confined to a wheelchair. There is not a set age where this occurs, but the average is around twelve years old. The DMD muscles involved in eating, drinking, and of the eye are not touched by the disease. They usually do not have any hearing deficits or stroke disorders 1.

Limb-girdle muscular dystrophy is a type of muscular dystrophy where the muscles affected are the hips and shoulders, which are also known as the limb girdle muscles. Some symptoms of Limb-girdle are muscle weakness/atrophy, myoglobinuria, myotonia, elevated serum CK, and in a fifth of the cases, cardiomyopathy. The symptoms continue to get worse over time and sometimes they can get worse very quickly. The symptoms tend to appear around the age of 10 or 12, and the person may lose mobility within 20-30 years. Limb-girdle is not a fatal disease, and death usually is caused by a secondary disease. But in the most severe cases the lifespan is shortened to about 20-30 years.

Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).

Nowak KJ, & Davies KE. (2004). Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Reports, 5(9), 872-876. doi:10.1038/sj.embor.7400221

Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).

Muscular Dystrophy is a genetic disease in which muscle fibers are usually susceptible to damage and cause muscle wasting and weakness. There are bundles of fibers that make up muscles; proteins are involved in these muscles and help to keep the muscle working properly. If

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

Currently, there are 9 major forms of muscular dystrophy which include: Myotonic, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, Emery-Dreifuss, and Duchenne muscular dystrophy (Mayo Clinic, 2014). For the purpose of this paper, the cause, as well as the impact of Duchenne muscular dystrophy on development, will be discussed.

DMD is caused by a mutation in the X-linked dystrophin gene, which results in a dysfunctional dystrophin protein. Dystrophin is a cytoskeletal protein that provides mechanical stability to muscle cells by connecting the muscle sarcolemma to the basal lamina of the extracellular matrix (ECM), and without it there, the muscle cells typically undergo a process of degeneration and regeneration. This process is limited by the survival of satellite cells present since satellite cells can only undergo mitosis a limited amount of times. Sarcolemma instability typically results in excess intracellular amounts of both sodium and calcium, which causes ATP depletion and mitochondrial uncoupling (Horn & Schleip, 2012). Satellite cells only have a limited number times they can undergo mitosis, and once a patient can no longer generate healthy muscle cells, the patient will typically experience cell death. This cell death and necrosis usually

It is estimated that 1 in 8,000 people worldwide develop the disease known as DM-Myotonica (GHR). DM-Myotonica is an inherited disease that causes an abnormal DNA expansion, which in turn creates an over abundance of certain types of genes, and ultimately disrupts the integrity of normal muscle function within in several parts of the body (MDA). The meaning of the name of the disease bears roots in Greek medicine, specifically the abbreviation DM, standing for dystrophia myotonica; the term dystrophy means bad nutrition and myotonic refers to tonic muscle spasms, or the inability of the muscles to relax (MDA 2015). There are two types of DM-myotonica which are named MMD1 and MMD2. MMD1 is the more prominent of the two, but both result in abnormal