Muscular Dystrophy Essay

The most common features of Neuromyotonia is muscle stiffness, muscles contracting, twitching muscles (myokymia), and weakened reflexes. These symptoms can be designated to a particular area, usually the face and hands or throughout the body. Stiffness is mostly featured in the limbs and trunk muscles. Observable symptoms include abnormal movements, pains and cramps. Behavioral changes include disruptive sleep, excessive sweating, although these types of symptoms are uncommon. Symptoms can occur during sleep and when under anesthesia. Muscle fiber excessive activity can lead to muscle weakness or increase size of muscle cells known as hypertrophy (David, Firth, Cox 515). Being diagnose with Neuromyonia ranges from a wide age range fifthteen to sixty, most people experience signs before their forties (Maddison 2119).

1. The meaning of Duchenne muscular dystrophy is a severe form of muscular dystrophy caused by a genetic defect that can be characterized by a disturbed growth of cardiac and skeletal muscles. It usually affects boys. In 1861, a French neurologist, Guillaume B. Duchenne, was the first person to give a detailed description of this syndrome.

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

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.

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 defined as a chronic form of dystrophy that is caused by a mutated gene. This essay critically discusses Duchenne muscular dystrophy as a whole, including all the symptoms, causes as well as treatment.

According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or

Even though the annual telethon is over, muscular dystrophy—all nine forms—still exists. MD presents with a combination of muscle weakness and muscle wasting.

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.

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).

Myotonic dystrophy is one of the most common muscle disorders in the world that affects one’s muscles and makes their whole body weak. Myotonic dystrophy is a dominant inherited trait. Having one copy of the gene in each cell will cause the disorder and it is located on the long arm of chromosome nineteen. There are two types; type 2 of myotonic dystrophy is less harmful than type 1 and it affects one in eight thousand people in the world, usually between the ages of twenty and thirty. Symptoms include weakness in the face, neck, hands, and legs. Sometimes people will get cataracts and an irregular heartbeat, and if men have myotonic dystrophy, they might not be fertile to produce a child. If a baby is born with myotonic dystrophy, they will

Myasthenia gravis may affect any voluntary muscles. They may affect muscles that control the eyelid movement, facial expression and swallowing. The most symptoms of myasthenia gravis that can be noticed are the weakness of the eye muscle that causes double vision. Some symptoms of myasthenia gravis may include unstable walk, arm weakness, weakness in hands, fingers, legs and neck, change in facial expression, having a hard time swallowing, shortness of breath, and having problems with

Muscular dystrophies are caused by genetic mutations, and as of today there is no cure. Knowledge about this degenerative disease is crucial to awareness and eventually a cure. There are a handful of variations of this disease, the most common being Duchenne’s. Their common factor is the defect in their genetic code for dystrophin. Dystrophin being a vital protein that is necessary for muscle growth and function. (Hoffman 1987)

Many illnesses and diseases can affect the function of the neuromuscular junction (NMJ). The diseases and illness that affect the neuromuscular junction can either affect the post-synpatic or pre-synpatic area. A disease that is known to affect the pre-synpatic neuromuscular junction complex is called autoimmune neuromyotonia, which is also known as Isaacs’ syndrome. Autoimmune neuromyotonia is an inflammatory disorder that is distinguished by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity and hyperexcitability of the motor neurons(Kiernan, 2014). According to Neuromuscular junction in health and disease by N. P. Hirsch, “Isaacs’ syndrome is characterized by focal or generalized myokymia