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Copy of Isaac's Syndrome

Muscle Pathology
by

Becky Sorensen

on 27 March 2013

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Transcript of Copy of Isaac's Syndrome

Isaac's Syndrome (neuromyotonia) There are three known forms of Isacc's Syndrome. The heraditary form is cause by a mutation in the short arm of chromosome 12. It is a dominant trait that will be passed on to your offspring. This is called generalized familial myotonia. The other form is aquired. There are two different auired forms, focal neuromyotonia and generalized sporadic neuromyotonia. Focal neuromytonia affects a certain region of the body and generalized sporadic neuromyotonia affects the whole body. You can aquire this syndrome by toxic exposure or tumors located in the thoracic region. The last form of this syndrome is adn autoimmune disease where the immune system abnormally produces antibodies that attck the muscle nerve and in turn affects the muscle movement. Isaac's Syndrome is caused by hyperexcitibility and continuous firing of the peripheral nerve axons that activate muscle fibers. What does this mean? The motor neuron keeps on sending out the signal for the muslce to contract. This results in muscle cramping which is painful. What muscle groups are affected? The skeletal muscles are the only ones that are affected. Every muscle in the boby is suseptable to Isaac's Syndrome. The most common muscles are in the appendicular skeleton. The symptoms are...
Muscle cramps
Difficulty relaxing muscles
Transient stiffness
Persistent myokymia (twitching)
Lower limb contractures (continuous cotraction)
Increased muscle tone
Cyanosis (lack of oxygen)
Increased sweating
Weakened reflexes
muscle pain
*occurs while sleeping and the most prominant symptom is muscle stiffness The prognosis of Issac's syndrome is not quite developed. Because of the rareness of it they have not developed a long term prognosis but short term is that you can do treatment and alliviate some of the symptoms but there is no cure. The main way to diagnose Isaac's Syndrome is by electromyography (EMG). That is when the doctor will record the electrical acctivity and look for any abnormalities. Many times to confirm their diagnosis the docctor will analyze the cerebrospinal fluid which is obtained by a lumbar puncture. The identification of auto-antibodies that are targeting the muscle nerve will confirm. The treatment is more experimental than anything. Usually anticonvulsants are given to stop the involuntary muscle contractions aslo to relieve the stiffness but not all. They use this medicine to stop siezures. Plasma exchange is anthoer way. Immunosupressive therapy is used for those who are thought to have the auto-immune form. Some that are being researched are Oxygen inhalation to relax the muscle and surgery to block motor nerves and sensory nerves. The Prevention for Isaac's syndrome is not strieght forward. Because of the different forms it varies. It is recommended that you keep a healthy life style and do not put your health at risk. Try to stay away of toxic chemicals. If you are having these symptoms then you should go see your doctor. Life with Isaac's sydrome would be difficult but not to a point that it is over. At times you will drop something that you are holding at you will have a hard time reading a book and sitting still because of the muscle cramps. It will be painful and may not be able to get out of bed in the morning. You do everything that you can to stay active but it seems that it is not helping then you convince yourself that it could be worse. Again you regain your optimism. It will be a battle for the rest of your life but the question is will you let it control your life. Works Cited
GoldBamboo.com - Your Integrative Health and Wellness Resource. Web. 15 Dec. 2010. <http://www.goldbamboo.com/>.
"Neuromyotonia." WebMD - Better Information. Better Health. Web. 15 Dec. 2010. <http://www.webmd.com/>.
"Online Database Access." Washoe County School District. Web. 15 Dec. 2010. <http://www.washoe.k12.nv.us/students/database-library>.
Parker, Steve. The Human Body Book. New York: DK Pub., 2007. Print.
Rhees, R. Ward., and Sidney L. Palmer. Human Anatomy and Physiology. New York: McGraw-Hill, 2010. Print.
Wrong Diagnosis. Web. 15 Dec. 2010. <http://www.wrongdiagnosis.com/>. Interesting Facts
Both women and men are affected
Rare- less than 200,000 in the US
About 20 people in Sweden
Misdiagnosed - diabetic neuropathy, peripheral neuropathy, multiple sclerosis, or a vitamin 12 defiency
Other names include, Isaac-Mertens Syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome.
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