Dm-Myotonica Research Paper

Duchenne muscular dystrophy was first discovered by Guillaume Benjamin Amand Duchenne in the 1860’s, but due to lack of medical knowledge little was known until the 1980’s. It was in 1986 that researchers that were supported by the MDA, muscular dystrophy association, identified the particular X-chromosome that leads to DMD, Duchenne muscular dystrophy. Dystrophin is the protein that is associated with the gene and was named in 1987.The DMD gene is the second largest gene to date, and it produces dystrophin.(Genome, 2013) Lack of the protein Dystrophin in the muscle cells causes them to weaken and become fragile. (MDA, 2015). DMD is an inherited disorder, but there are rare cases where it can spontaneously appear in a child with no previous family history due to a random mutation in moms X-chromosome. DMD is a gender specific disease that only appears in males.

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

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

Duchenne Muscular Dystrophy (DMD) refers to the muscle appearing poorly nourished because of degeneration, which leads to muscle weakness and lost of muscle mass. DMD is a disorder that is caused by genetic mutations in the dystrophin gene. Dystrophin is a muscle that connects the cytoskeleton to the extracellular matrix (ECM). Tidy, D. C. (2016, April 15). When nonsense mutation or frameshift mutation occurs in dystrophin, it results in no protein at all, which causes a severe form of DMD. A dystrophin gene has more base pairs and more exons in comparison to most genes, which means the dysophin gene has a higher chance for mistakes during meiosis. The disorder affects one in 5000 newborn males. Tidy, D. C. (2016, April 15). Males have one

Duchenne muscular dystrophy (DMD) is a genetic disease that weakens one’s muscles. DMD is inherited through an X linked pattern due to the gene carrying the DMD mutation is on the X chromosome. The male population are affected by DMD almost exclusive. There is a one in two chance that a male offspring will have DMD if their mother is a carrier of the mutated gene. Every boy inherits an X chromosome from their mother and a Y from their father. If a boy inherits the mutated gene, then they will definitely have the disease because they don’t have a second gene to make up for the faulty one. Female with DMD are very rare in comparison to their counterpart. Girls inherits two X chromosomes, one from each parent. When a girl inherits

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.

Duchenne muscular dystrophy (DMD) is one of many types of muscular dystrophy disorders, which affect the muscle fibers. It is the most aggressive form of muscular dystrophy. The muscle fibers gradually become weaker and incapacitate the affected individual. “DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males (NCBI, 2014).” Males are more susceptible to inherit this disorder because DMD is passed on through the X chromosome. Women can be carriers of the disorder without any adverse affects. The female carrier has a 50% chance of passing on this trait to an offspring. It is extremely rare that a female will have DMD. Symptoms of this disorder include muscle weakness that starts at the legs and progresses at a fast rate though out the body. The rapid progression of muscular dystrophy means that the inflicted individual will eventually be confined to a wheelchair in their life time. “Wheelchair dependency had a median age of 10 years (OMIM, 2013).” Other symptoms include degraded motor skills as well as learning disabilities. As muscle mass diminishes the individual suffers from heart and lung complications eventually leading to the persons’ death. “Death occurred at a median age of 17 years (OMIM, 2013).” The X-linked inherited disease is cased by a mutation in the DNA segment of the X chromosome in the DMD (P11532) gene. This

The symptoms are also effected by the age of the carrier. If an adult is experiencing muscle weakness especially in the leg, hand, neck, and face, and myotonia, which is uncontrollable contraction of muscles, they should be suspected of having DM1. If a newborn has hypotonia, facial muscle weakness, general weakness, positional malformations, or respiratory insufficiency, it should also be suspected of having DM1. Many testes are available to be able to determine if you have DM1. Some tests include electromyography, serum CK concentration, and a muscle biopsy. Checking allele sizes also help to determine whether or not you are positive for DM1. Unfortunately, since the disorder is rare, it is very difficult to predict a prognosis on it. “Non-molecular testing that has been used in the past to establish the diagnosis of DM1 currently has little role in diagnosis and is primarily used if molecular testing of DMPK does not identify the CTG repeat expansion and other myopathies are being considered.” (Thomas D. Bird).

Muscular Dystrophy also known as MD, is made up of a group of genetic diseases where muscle fibers are unusually susceptible to damage and the damaged muscles become progressively weak. Muscular Dystrophy is caused by certain defects with a specific type of gene known as the abnormal gene. Majority of muscular dystrophies come from an inherited disease referred to as X-linked disorders or genetic diseases in which mothers can transmit to their sons, even if the mother is not affected by the disease.

Of all inheritable myopathies, central core disease accounts for 16 percent of cases. Nemaline Rod Myopathy accounts for 20 percent. 14 percent is Centronuclear myopathy. The last 10 percent is Multicore Myopathy. Prevalence of muscular dystrophy is higher in males. In the United States, Duchenne MD and Becker MD- result from a genetic defect on the X chromosome, which is why it occurs in approximately 1 in 3300 boys. 63 per 1 million is overall incidence of muscular dystrophy. Worldwide incidence of inflammatory myopathies is about 5–10 per 100,000 people. Women tend have these disorders more than men. Incidence and prevalence of endocrine and metabolic myopathies are unknown. Endocrine disorders tend to be more common in women so that's why Corticosteroid myopathy is the most common type of endocrine myopathy in women. Metabolic myopathies are rare, but diagnosis of these conditions is increasing in the United States.

Researchers identified that a gene in the X chromosome that when flawed it is the cause of MD. Dystrophin is the gene that is needed in the X chromosome to have fully functioning muscle development. MD is inherited in only the X chromosome so males have a 50% chance of inheriting the condition if the mother is a carrier, but females have a very low risk because they get an X chromosome from both mother and father. This condition is an X-linked recessive pattern. If a female inherits a mutated dystrophin gene from one of her parents, she will usually get a healthy dystrophin gene from her other parent because the father can pass the recessive gene in the X chromosomes. The female becomes a carrier just like her mother because the mutation is still in her genes . A male who mother who’s is a carrier has a 50% chance of inheriting the mutation and if they do inherit the gene they will develop the disease because they can not rely on

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Myotonic Dystrophy is a late onset disease which has two types. The first type is DM1. In order to test for DM1 a molecular genetic test is performed on DMPK. DMPK stands for Dystrophia myotonica-protein kinase. This test is 100% accurate because it will detect the pathogenic variants in all patients. DM1 comes from a defect in chromosome nineteen.

Myotonic dystrophy presents with myotonic contractions, where muscles cannot be relaxed after use. Other common characteristics include: muscle wasting, weakness, impaired intellect, cardiac arrhythmias and cataracts.

People affected by this disease may also suffer from abnormalities of the heart, the resistance of insulin, and early balding. Myotonic dystrophy is a disease that is passed down in an “autosomal dominant fashion;” this meaning that you only have to inherit the abnormal gene from one parent instead of both. There are both type one (DM1) and type two (DM2) myotonic dystrophies, both of which occur when the CTG trinucleotide repeat have an unstable expansion; the trinucleotide repeat is due to a slippage during DNA replication. Another cause for this disease is the enlargement of the cytosine-CTG repeat. Patients with this disease normally see more serious symptoms as these expansions increase.