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What Is Dreifuss Muscular Dystrophy?

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a.)
The nucleus of a eukaryotic cell is surrounded by two phospholipid bilayer membranes, with nuclear pores connecting them and regulating the movement of materials between the nucleus and the cytosol (1). The nucleus of a eukaryotic cell is the largest organelle, and within in it is the DNA. The DNA within each cell is identical within every cell in an organism, with only small differences due to mutations. The DNA within a nucleus is consists of two chains of combinations of Adenine, Thymine, Guanine, and Cytosine, with each chain held together by a Phosphate-deoxyribose backbone (1). The two chains are form a double helix structure, with the pattern of each chain complementary to the other, with Adenine hydrogen bonding to Thymine, and Guanine hydrogen bonding to Cytosine. The DNA along with specific proteins are further organised into Chromosomes, individual continuous pieces of DNA.

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The EMD and LMNA genes are used in the synthesis of proteins that are components in the membrane of the nucleus that regulate the molecules that enter and exit the nucleus. The inheritance pattern of Emery-Dreifuss muscular dystrophy is dependent of which of these two genes is defective. For the mutated EMD gene, it is inherited in an x-linked recessive pattern, resulting in males being at a significantly higher risk of being affected than females. The mutation of the LMNA gene results in an autosomal dominant inheritance pattern, requiring its presence in only of the parent’s DNA to

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1. Nucleus- present only in eukaryotic cells, this structure stores most of the genetic information of the cell. The nucleus directs the production of proteins through the synthesis of mRNA. 2.

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Each year duchenne muscular dystrophy affects around 1 in 3500 male births worldwide(1). Duchenne affects patient's whole life since it attacks skeletal system, respiratory system, and in progress stages it may attack the heart(2).The phases of duchenne muscular dystrophy help scientists understand the disease because each phase has its own symptoms. Moreover, each phase attacks specific systems and organs in the patient's body. Duchenne muscular dystrophy develops relentlessly over time, and can be divided into three phases, early phase , transitional phase, and teenager and adult phase(1). The Early phase of duchenne muscular dystrophy begins from the day is diagnosed until the patient is 6 years old(1).Duchenne can by diagnosed through a muscle biopsy, taking a sample

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The disease Duchenne muscular Dystrophy (DMD) is the most common form of muscular dystrophy (1) in fact 3 out of every 10,000 births will result in a male born with this disorder (2). DMD is a recessive sex linked disorder that can only be passed down to the child if his mother is the carrier (2, 3). Symptoms for DMD are confinement to a wheel chair by the age of 11at the latest and are expected to die in their twenties to forties (2, 4). This is because DMD causes progressive muscle weakness and will reduce muscle tone throughout the body. Muscle weakness will usually begin its onset by the age of three (4).

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The results fitted nicely with the author’s hypothesis, showing PGC-1α gene transfer was able to control and enhance dystrophin-deficient muscle functioning. Despite successful results, the authors have noted contradicting findings such as increased inflammation in the treated limbs. Little explanation was given as to why and whether it could affect the muscle in the long run, so more elaboration is needed. Overall, the study was well-designed with results to support the hypothesis of this potential treatment for DMD to mitigate symptoms and restore muscle

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Duchenne Muscular Dystrophy is a disorder that is both mentally and physically challenging. Duchenne Syndrome is caused by the mutation of a gene on the X-chromosome. A muscle protein, dystrophin, is affected by this mutation. The damaged gene cannot make enough dystrophin to work right, so it will result in DMD. Dystrophin is a protein that is associated with muscles in the heart, bones, and some in the nerve

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DMD is muscular disorder that causes progressive weakening of muscles. It is one of nine types of Muscular dystrophies, it is the most common, most fatal, and progresses the fastest. It is genetic through a mutated gene on the X chromosome, it is passed through the Mother. In many cases it happens when there is not any known family history of the disorder.

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Duchenne Muscular Dystrophy occurs on the DMD gene, but the DMD gene is on the X chromosome. This means it is sex-linked, or in the sex chromosomes, but it is also a recessive gene. This means that males are more likely to get it because they only have one copy of the X chromosome, so there is no other healthy X chromosome to compensate for their mutated one. Since Duchenne Muscular Dystrophy is sex-linked, it does have a hereditary component. The following Punnett Squares show the likelihood of parents who are Heterozygous, Homozygous Dominant, or Homozygous Recessive offspring having Duchenne Muscular Dystrophy.

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This is why it only affects males, because, they receive one X chromosome from their mother and one Y chromosome from their father. They have a 50% chance of receiving the X chromosome from their mother that carries the muscular dystrophy. Women can carry the Muscular dystrophy gene and not even know it, and it is possible for it to skip multiple generations. A man with Duchenne Muscular Dystrophy cannot pass the disease on to his son, but he will pass it on to his daughter because females receive their fathers X chromosome, sons only receive the Y. When girls receive the flawed gene from one parent, the other parent’s gene usually makes up for the lack of protein from the flawed gene. They can, however, have slight muscular dystrophy, but not as severe as the

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Muscular dystrophy is known as a muscle disorder that is not associated with central nerve abnormality. Disease is supposed to attack the muscles that lack fiber in them. The stability of the sarcolemma muscles depends upon the two main elements, these are dystrophin and dystrophin associated glycoproteins. Pathophysiology of the disease has shown that the gene of dystrophin is present on the chromosome X around the locus p21. In addition to this, there are 3685 amino acids present in this muscle.

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Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade, French neurologist Guillaume Duchenne gave a comprehensive account of thirteen boys with the most common and severe form of the disease, which now carries his name—Duchenne muscular dystrophy.

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There are more than thirty inherited muscular dystrophy that causes the muscles to wither, and weaken. Even though there are over thirty different types, Duchenne muscular dystrophy is the most severe form of muscular dystrophy. Around three years of age is when symptoms begin to show, and with continuous muscle impairment the children that have Duchenne muscular dystrophy are normally wheelchair bound in their early teens. Following that; when the child reaches their mid to late twenties they suffer from cardiac/respiratory failure leading to death. Duchenne muscular dystrophy is a form of muscular dystrophy that only affects boys.

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