Essay On Spinal Muscular Atrophy

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

Spinal Muscular Atrophy is classify as an interneuron abnormality and loss of the anterior horn cells in the spinal column. SMA is categorized into three subtypes with the classification embedded on the motor milestone achieved. Spinal type I (Werdnig-Hoffman disease) child is to weak that they never learn to sit, type II child learn to sit but never learn to walk without assistive device, and type III (Kugelberg-Welander disease) child can walk independently (Tecklin, 2015).

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,

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

Muscular dystrophy can negtively impact muscles in the body by disrupting strength, structure, and signaling. MD can also have adverse effects on the nervous, repiratory, and immune systems by leading to impairments such as learning disabilities, heart complications, and

Duchenne Muscular Dystrophy or DMD for short is a genetic disease that affects the skeletal muscles causing muscle degeneration and muscle wasting. Duchenne Muscular Dystrophy is an X-linked recessive chromosomal disease, which is caused by mutations in the DMD Gene (Regenerative Medicine). This Disease affects 1 in 3600 boys (Regenerative Medicine). A male born with this disease experiences respiratory dysfunction, trouble ambulation, cognitive impairment, some even experience premature death. Unfortunately, there is no cure for DMD, but there are research studies in the works for different therapies to help reverse this gene mutation and to elevate symptoms associate with this disease.

Myotonic Muscular Dystrophy, abbreviated MMD, is a disease that affects the muscles and organs of a body. To break Myotonic Muscular Dystrophy down, the word myotonic is the adjective for myotonia, which is an inability to relax muscles at will. Muscular dystrophy means the gradual muscle degeneration, which weakens and shrinks muscle tissue. Knowing the breakdown of MMD, this disease summed up means a person is restricted to relax their muscles at their own will whenever they would like ("Overview Myotonic Muscular Dystrophy"). MMD is also known as "Steinert Disease", which was named after a German doctor who first described the disorder in 1909 ("Facts About Myotonic Muscular Dystrophy").

Muscular Dystrophy (MD) is a disease that can be defined as a group of genetic traits that includes deteriorating by the voluntary muscular and/or skeletal movements. Other organs such as the heart are another example of an involuntary muscle that can easily be affected by the disease. Muscular Dystrophy can effect anyone - child or infant, and even middle age to older adults. The overall severity of the disease depends on when it decides to show up. Some factors are simply the age of the individual, the current condition or strength of their muscles, how fast the disease progresses, and as well genes. Most do are not fully aware of the severity of the disease, nor do they know that there are nine different types out there. Some types of Muscular Dystrophy affect males.

What is Muscular Dystrophy, or MD for short. Muscular Dystrophy is a hereditary disease that effects the muscles which controls movement weaken overtime, and in some cases will affect the heart and other organs. Symptoms can show up in those as young as infants and can stay in those in the middle ages or older. There are nine major forms of MD including: Myotonic, Duchenne, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, Emery-Dreifuss. The form and severity vary by the age that MD occurs. Some types of MD will affect mostly males, while some people with MD will enjoy a slow progression with mild symptoms, but on the otherhand, others will experience swift and severe weakening, dying in their late teens and early 20’s. More than 50,000 Americans are affected by various types of MD.

In each form of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. Many of these actions are inherited but, some occur spontaneously

Muscular dystrophy is a rare disease. 349 out of 2.37 million males aged between five and twenty-four had Duchenne or Becker muscular dystrophy in 2007. Males are more likely to be affected. It is very rare for females to have the disease.

Describe the prognosis for individuals with this disorder. Are there any medical treatments available? What is the average life expectancy? Are there genetic tests available?

Each one mentioned above is very different form the other. Each one also has various sub-types of the condition. Today approximately one in ever fifty thousand children born are affected by the disease. In today’s general population nine in one million suffer from this disease. Most people who have this disease pass away at a very young age. The oldest know person living with this condition was Tabatha Nichols of Hastings Michigan. She was twenty-four years old when she passed away in her

While some researches found that HVLA spinal manipulation is effective, others found that there are no statistical significant differences between itand placebo treatment. The exact mechanism for SMT remains unclear. Early work on SMT reveals patients have a change in EMG activity after treatment. It is proposed that SMT releases fascia adhesions in the joint, reduces distortion on the vertebral joints, and reduces stress in the surrounding soft tissues. It is suggested that it changes neurophysiological responses and normalizes how the body processes proprioceptive affereent input. Perhaps once a more precise mechanism of SMT is determined, it could give more insight to why it is a potential treatment for

Introduction : Werding Hoffman disease is the most sever type of the spinal muscular atrophy disease ( SMA ) . It is an autosomal recessive disorder characterized by progressive damage of the anterior horn cells of the spinal cord leading to progressive muscle weakness and generalized atrophy . It is caused mainly by homozygous defect in gene called Survival Motor Neuron 1 ( SMN 1 ) .SMA type 1 is one of the most serious fatal disorder that has high prevalence rate & high carrier frequency .Therefore, carrier testing for SMA is very important to be offered to all couples especially parents of SMA affected children. This test will help in future reproductive planning.