Anotated+Bib.

Hannah Krewson Annotation 1: An Overview of Charcot-Marie-Tooth Disorders Shy, Michael E, MD. "An Overview of Charcot-Marie-Tooth Disorders." Charcot-Marie-Tooth Assosciation. Charcot-Marie-Tooth Assosciation, 2010. Web. 22 Sept. 2010. <[] overview.php>.

Information: Author’s credentials- Michael E. Shy, MD, Professor of Neurology, Wayne State University School of Medicine, and Chairman of the CMTA Medical Advisory Board. The author has conducted research for Wayne State University as well as being a Professor of Neurology, CMT is directly related to his profession as it is a neurological disease.

Scope and purpose of the work- The article is an overview of CMT or Charcot-Marie-Tooth Disease the intended audience appears to be the general public.

Summary: Thesis: The authors thesis is an informational overview of Charcot-Marie-Tooth Disease meant to educate the reader. The information gathered can be summarized as follows:

Arguments- · CMT is the most commonly inherited neurological disorder

· CMT is one of 40 diseases covered by the MDA

· CMT typically isn’t life-threatening

· CMT has no cure

Evidence: · CMT is hereditary is usually inherited through autosomal dominant pattern

· If one parent has CMT there is a 50/50 chance of each child inheriting the disorder

· CMT is slowly progressive deteriorating peripheral nerves

· The deterioration effects muscle function and sensory information of the legs, feet, forearms, and hands

· It does not affect life expectancy but can potentially cause severe disability

· Has no cure but can be treated/helped through physical/occupational therapy and is sometimes treated with surgery

Evaluation: The article was clear and researched through the CMT Association and Athena Diagnostics. The topic revolves solely around CMT disease and the core facts surrounding CMT Disease. The author does not take an objective stance as the article’s purpose is to inform the reader not state an argument. The information provided gave very useful knowledge of CMT and provided useful facts and statistics.

Reflection: The source has proved helpful to my research informing me of certain conditions and statistics of CMT. The facts and statistics can be used to highlight some of the points of my argument as well as helping me construct an image for this disease in my writing. Annotation 2: Charcot-Marie-Tooth Disease Information: Mayo Clinic Staff. "Charcot-Marie-Tooth Disease." //MayoClinic.com//. Mayo Foundation for Medical Education and Research, 7 Aug. 2010. Web. 30 Sept. 2010. . Author’s credentials: The Author of this article is the Mayo Clinic Staff which has a reputation for their medical education research and is renowned for their health and science studies. Scope and purpose of the Work: The purpose of this article is informational providing a definition, symptoms, causes and other useful information on Charcot-Marie-Tooth Disease. The intended audience is the general public and anyone who believes they have the disease. Summary: The Mayo Clinic states that CMT is a hereditary motor and sensory neuropathy disease that affects the nerves in the arms and legs. The symptoms of this disease generally affect and start in the feet and legs but as it progresses it can also affect the hands and arms. Evidence of this is seen in those diagnosed with CMT who have suffered muscle loss in the feet and legs as well as the hands. The loss of muscle use and bulk is what causes the severe loss of function found in advanced cases of CMT. Because the disease progresses symptoms can vary in severity and can also vary in family members with the disease. CMT is hereditary and having immediate family members with the disease increases a person’s chance of having CMT. Mutations in inherited genes have been proven to be the cause of CMT as they damage in the nerves of the feet and legs as well as damaging the nerve itself. The harshest complications of CMT are foot abnormalities, loss of sensation, and difficulty walking. Certain tests are available for diagnosing CMT such as Nerve conduction studies, Electromyography, and nerve biopsy which test the electrical activity of nerves in the muscle. Genetic testing can also be used to detect common genetic defects linked with CMT. CMT has no cure but therapy and surgery can help treat CMT as well as pain medications for certain cases. Evaluation: The article was well researched and provided useful information on understanding CMT and factors of the disease. The article has touched on many areas of the disease such as definition, symptoms, causes, complications, treatment, and diagnosis. Because the article was informational it did not take a biased or objective stance. Reflection: This source was helpful in understanding certain aspects of my topic. I learned a lot about the complications, treatments, and testing that I have not learned from my other source thus far. This article helps me understand my topic in that it reveals some insight on the complications of living with CMT.

Annotation 3: Facts about Charcot-Marie-Tooth Disease & Related Diseases Muscle Dystrophy Association. "Facts about Charcot-Marie-Tooth disease & Related Diseases." //MDA Publications//. MDA, Dec. 2009. Web. 6 Oct. 2010. . Author’s Credentials: The online article comes from a book written by the Muscle Dystrophy Association a non-profit health agency which deals with muscular dystrophy including diseases like CMT, and funds research for these diseases worldwide. The Association also provides education on the diseases. Scope/purpose of the work: Informative article on CMT and related diseases with insight on persons suffering from CMT. Summary: Charcot-Marie-Tooth disease was named after the first three physicians to describe it in 1886. Although it is not a commonly known disease it affects more than 115,000 Americans. CMT is one of the few neurological disorders that is not usually life-threatening and almost never effects the brain. The disease damages the peripheral nerves or tracts of cell fibers that connect the brain and spinal cords to the muscles of the feet, legs, hands, and sensory organs. The peripheral nerves control movement by sending neurological impulses from the spinal cord to the muscles. The transfer sensations of pain and temperature from the hands, feet, and legs to the spinal cord as well as assisting balance control by carrying information about the body position in terms of space. The messages that are sent to the spinal cord are then relayed to the brain so the brain knows where the hands and feet should be placed as well as their temperature and whether or not pain is present in those areas. The damage to the peripheral nerves or neuropathy causes muscle weakness and deterioration and loss of sensation commonly located in the body extremities. This includes the feet, lower legs or calves, hands, and forearms. In looks CMT is very similar to acquired neuropathy, or nerve damage caused diabetes. However acquired neuropathy is caused by abnormalities in the body or exposure to certain substances while CMT is hereditary. Because of this CMT is also referred to as hereditary motor and sensory neuropathy or HMSN. CMT has many other names as many different forms of the disease exist there are two types for CMT, CMT type 1 and CMT type 2. The disease is caused by defects in genes, each form of CMT is linked to a specific gene that makes proteins found within peripheral nerves. The peripheral nerves are coated with a myelin sheath that assists the nerves axons. CMT has 20 different gene types that are linked to the disease. Some of the defective genes make proteins needed in the axons and others make proteins needed in the myelin sheath. Defective myelin genes can create a breakdown of myelin and defective axon genes can impair the axon functions. In both cases the defective myelin or axon can lead to progressive axon damage. The longest of the body’s axons are particularly sensitive to damage which explains why CMT causes motor and sensory problems in the lower extremities of the body. People with CMT experience slow progressive weakness and deterioration in the distal muscles which control the extremities or feet, legs, hands, and forearms. The forearms and legs are not as susceptible as the hands and feet. Typically the weakness begins in the feet and ankles causing foot drop affecting a person’s ability to walk normally. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">Evaluation: <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">The article was extremely useful in its detail or the neurological effects of CMT. It provided valuable knowledge of the effects of CMT and in depth look at its implications. The author provides knowledgeable insight on the medical terminology of CMT such as the names of the nerves and the parts of the nerves CMT affects and well as an explanation as to how the progression process works. Overall it was a very enlightening article. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">Reflection: <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">The source proved to be extremely helpful in my research in explaining the in depth factors of the neurological disorders that my previous sources merely touched on as well as explaining the inner workings of peripheral neuropathy. <span style="color: black; font-family: 'Times New Roman','serif'; font-size: 12pt;">Annotation 4: Treatment for Charcot-Marie-Tooth disease

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt;">"Charcot Marie Tooth Disease." //Genetics Home Reference//. Ed. U.S. National Library of Medicine. U.S. National Library of Medicine, 3 Oct. 2010. Web. 4 Oct. 2010. <http://ghr.nlm.nih.gov/condition/ charcot-marie-tooth-disease>.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt;">Author’s Credentials: This article was written by a team of neurologist at the University of Munster, in Germany with the Department of Molecular Genetics, Neurogenetics Group, and the University of Antwerp. All parties are considered some of the best neurologists and genetics groups in the world. The work has been edited by the Cochrane Neuromuscular Disease group who sole purpose is to test the validity and publish medical works of this medical field.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt;">Purpose: The purpose of this work is to document research, results, and conclusions conducted by the authors of this article on Charcot-Marie-Tooth disease as well as providing an informational article on the disease.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt;">Summary: Charcot-Marie-Tooth disease is composed of a variety of different forms of motor and sensory neuropathies, the most frequent variety’s being CMT1 ( demyelinating forms) and CMT2 ( axonal forms). The demyelinating form affects the myelin sheath surrounding the peripheral nerves while the axonal form affects the nerves axons. Over the past fifteen years several forms of CMT have been clarified on a molecular basis. The current treatments for CMT are aimed to improve motor impairment and sensory disturbances as they are the main features of the disease. The main results of the research concluded that only one trial in eight participants met all criteria. IN the trail four participants were treated with neurotrophin-3 with improvement over six months on the Neuropathy Impairment Score the mean difference being -9.50. The other four were treated with a placebo a false treatment where no drug was administered the patients only believed they were using a drug. Small trials of exercise, creatine monohydrate, orthoses, and purified bovine brain ganglioside injections showed no significant benefit with genetically undefined CMT1 or CMT2. In conclusion a small trial of neurotophin-3 showed possible benefit however small. The treatment requires further testing with a larger trail. Trials of vitamin C are being used on the most common type of CMT are taking place.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt;">Evaluation: The article was informative in that it gave insight onto research being conducted to find a cure for CMT. The article distinguished between the different types of CMT and was able identify the two common types. The article was able to provide the trial process and substances being used as well as an additional summary that places the research in laymen’s terms for those who aren’t as medically educated in the subject.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt;">Reflection: The piece also demonstrates that there is some work being done for CMT but also shows that trail groups being used are too small and there are still very few results for the testing. Since my article centers around finding a cure for CMT this article will be useful in promoting that more should be done for CMT. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Annotation 5 <span style="color: #333333; font-family: 'Times New Roman','serif'; font-size: 12pt;">Charcot-Marie-Tooth Association 2700 Chestnut Street, Chester, PA 19013 Toll-Free (US Only): 1-800-606-2682 Phone: 1-610-499-9264 Fax: 1-610-499-9267 <span style="color: #009bab; font-family: 'Times New Roman','serif'; font-size: 12pt; text-decoration: none; textunderline: none;">info@charcot-marie-tooth.org <span style="color: #333333; font-family: 'Times New Roman','serif'; font-size: 12pt;">© 2006 - 2010 Charcot-Marie-Tooth Association. All Rights Reserved. <span style="color: #333333; font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Author’s credentials- The author’s of this article are the Staff of the Charcot-Marie-Tooth Association dedicated to researching CMT, assisting those with CMT and CMT fundraisers, as well as spreading CMT awareness. The association works with Athena Diagnostics for all it’s research The Athena Diagnostics group is a well credited medical source.

<span style="color: #333333; font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Purpose- The purpose of the article is to provide information on treatment and management of CMT for those with or trying to understand CMT the audience is targeted as such.

<span style="color: #333333; font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Summary- The article states that before treatment can be conducted a diagnosis must be undertaken by a neurologist. After which a CMT patient is usually directed to a podiatrist (foot doctor) or an orthotist for fitting of braces, an orthopaedic surgeon for surgeries to straighten the toes, or lengthen heel cords or lower arches, or a physical therapist or occupational therapist to devise exercise programs to strengthen muscles and learn energy conservation. At present there is no cure for CMT but therapy can greatly improve function for those with CMT. It is important for those with CMT to maintain what movement, muscle strength and flexibility they have left. Physical therapy and moderate activity are highly beneficial in this case, but it should be monitored so overexertion can be avoided. Swimming and water therapy are preferable as it does no put undue stress on the body’s joints like walking or running. Bracing is a non-invasive form of correcting problems brought on by CMT. A brace can often correct gait abnormalities in the way a patient walks. There are two main types of braces articulate (hinged) or unarticulated (no hinge), the molded braces are called AFOS which stands for ankle-foot-orthoses. The braces can help control foot drop and instability in the ankles as well as providing a better sense of stability. Appropriate footwear is also very important for those with CMT but it is difficult to find well-fitting shoes. High arched feet and hammer toes can be problematic when attempting to find good shoes. Custom made shoes may be necessary, typically large shoe stores have pedorthists who are certified in fitting shoes for particular feet. Custom made shoes can be cast or inserts can be designed to make readymade shoes fit correctly. Since the sensory reception in the feet is hindered CMT patients may require a podiatrist to help trim nails or remove calluses on the pads of feet, so that the patient does not injure themselves doing these procedures. Another option is surgery for a patient. Many patients decide to stabilize their feet or use surgery to correct progressive problems. Some of the procedures include pinning the toes, lowering the arch, and occasionally fusing the ankle joint to provide stability. Recovery from these surgeries can last a long while and can be difficult. A patient should always consider the benefits weighed against the problems that might occur if they choose to undergo surgery. CMT patients may also need to address medical professionals on any pain that some patients experience such as sharp and sudden gnawing, chronic pain, and other pains that can be associated with dysfunctional nerves firing sporadically or attributed to weakened and poorly functioning muscles. Typically the joints and ligaments of the feet and ankles are painful due to the extra strain placed upon them by other muscles rendered useless by CMT. Generally people with CMT leave happy and health lives with a few precautions. Those with CMT should keep their hands and feet as warm as possible and should avoid falling as any fractures received will take longer to heal than someone without CMT. They should remain active as inactivity can worsen CMT and monitor their weight as extra weight can add stress onto areas affected by CMT. Stress management should also be taken into consideration.

<span style="color: #333333; font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Evaluation- This article proved useful in giving me insight to some of the treatments, needs, and problems faced by those living with CMT. It helps to construct an idea of some of the things someone with CMT might go through in life coping with their condition. The work was logical and orderly and will be useful in construction my paper.

<span style="color: #333333; font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Reflection- This source was extremely helpful to my research and could be beneficial in drawing up scenarios to stress points in my article as well as providing information for my paper. It supports my argument in that a cure for CMT would greatly benefit those who have to deal with having CMT.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Annotation 6: Finding out the truth about Charcot-Marie-Tooth <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Smith, Pohla. "Finding out the truth about Charcot-Marie-Tooth." <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">//Post-gazette.com News/Health//. Ed. Rebecca Droke. Pittsburgh Post-Gazette, <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">26 Dec. 2007. Web. 21 Oct. 2010. <http://www.post-gazette.com/pg/07360/ <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">844206-114.stm <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Author’s credentials: The author of this article Pohla Smith is a reporter for the Pittsburgh Post-Gazette’s health section. The News paper she writes for is highly accredited for its accuracy and medical information. The editor of the article Rebecca Droke is expressed as a very reliable and critical editor. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Scope/purpose- The purpose of the work is informative for the general public. It provides an interview with a woman diagnosed with CMT as well as touching on projects in progress to find a cure and treatments for CMT. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Summary: As a child Briget Shields suffered from symptoms of CMT that went unnoticed by various doctors. In 2004 Shields, symptoms worsened, she had leg cramps, burning sensations in her legs, and muscle weakness, as well as loss of balance and fatigue. Mrs. Shield began to go to doctors to try and diagnose her problem. Finally after undergoing an electromyogram a technician thought she had CMT, and began a new series of tests to determine if she had CMT, and she did. Mrs. Shields began researching the disease and found it was discovered in 1886 by three physicians Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. Eventually she stumbled upon the Charcot-Marie-Tooth Association in Chester PA. The organization is non-profit and focuses on patient support, public education/promotion, And funding research to find a cure for CMT. Two major fund raiser programs are the Accelerated Research Collaboration and the CMT Prevalence Study. The CMT Prevalence Study has a small group of scientists granted $350,000 to find a cure. They will be testing a list of 100,000 over-the-counter treatments already approved by the FDA. The Accelerated Research Collaboration, funded by the Pennsylvania Department of Health, is trying to determine how many people suffer from neuropathy by surveying eight West Pennsylvania counties, in order to get a more accurate count then trying to pole the entire state. The CMTA has been running public service ads on T.V. to get the public to participate in the survey, by filling out a brochure available on the website they have created-charcot-marie-tooth.org, or by calling the Murtha Institute. Meanwhile Ms. Sheilds is doing her part by organizing a support group and found raiser, and went to city council to issue a CMT awareness week in the summer of 2007. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Evaluation: The article was clearly very well researched and provided interesting information on projects in act to find a cure and treatments for CMT not only on a national level but global scope. The article also provides a more personal side of CMT in the interview with Briget Shields who suffers from CMT. Apparently CMT has been going misdiagnosed for years and promotion of the disease is important to correct this. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Reflection: This article will be very useful in my research paper on providing information of research being done to find a cure for CMT and elaborating on the importance of helping to fund research for a cure. This source has been very helpful to me in educating myself on experiments and research for CMT that is beneficial in finding a cure.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Annotation 7: Charcot-Marie-Tooth Disease <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Goodard, Janet, BSN,RN,CCRC,CCAP, and Dana Schertferger, comps. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">"Charcot-Marie=Tooth Disease." //Chech Orphan//. Merion Publications, 21 Jan. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">2009. Web. 22 Oct. 2010. <http://www.checkorphan.org/grid/news/treatment/ <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">charcot-marie-tooth-disease>. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Author’s Credential’s: // Janet Goodard is a nurse at the John P. Murtha Neuroscience & Pain Institute, Johnstown, PA. Dana Schwertfeger, director of member services at the Charcot-Marie-Tooth Association, contributed to this article. // <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Purpose/Scope: Provide information on symptoms, treatments, orthopedic solutions, research of CMT. Educating the public of an under exposed disease that can be miss diagnosed. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Summary: CMT consists of a group on disorders with more than 50 known genetic causes, though most forms are inherited from either parent or on some occasions both. If either parent is affected each child posses a fifty/fifty chance of inheriting the disorder. Another pattern of inheritance is X-linked. CMTis typically classified as type1 or type 2 depending on if the genetic abnormality affects the myelin sheathssurrondingtheaxons, CMT1,orprimarily causes deterioration of the axons,CMT2.TheonsetofCMT canoccur at almost any age those with CMT1 develope symptoms after age twenty. People with CMT2 can develope symptoms even later in life in their 40's or 50', thought it isnot uncommon for CMT to develope in early childhood. Symptomsare characteristically muscle weakness and atrophy and reduced sensation in a "stockin-glove"distribution. The resulting muscle imbalancescanproducecontractures, andtheshorteningofmusclesand surrounding connective tissue. Thesecomplications canleadto orthopedic deformitiessuch asabnormally high arches, hammertoes,andankledorsiflexion,foot drop, which can leadto excessive tripping and anklesprains. These deformities can also develope in a walking gait in the patient. Typically in diagnosing CMT a neurologist makes the diagnosis,a neuroplogist, physiatrist or primary care physician can continue to manage care. Most patients will also requirea specialist dependingon the case. Podiatrists and or orthopedists will be able to assist with proper care and treatment such as special shoes and braces. Generally early gait abnormalitis can be corrected in a patiant. Shoe orthotics may benifit some patients to prevent pronation or supination, for others bracing or corrective surgery may be needed.Physiatrist and physical therapists can also be benificial for muscle care for CMT patient. Exercise is greatly recommended, specified to the patients needs. Moderate exercise can be used to help control weight and maintain cardovascular fitness as well as strentheningthe affected muscles. Certain treatments such as vincristine, a chemotharpy agent known to be harmful and other neurotoxic medicatios can worsen CMT symptoms. New research developementsin genetics have increasedchances of seeking treatment and a cure for CMT. Scientists arenow ableto replicatethisdiseasein thelab.so as to begintesting treatmentsthatcan lead toclinical trials in people. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Evaluation: The article was informative and provided information not as thoroughly described or mentioned in my other research articles. The article also provided more information on the research being done on CMT. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Reflection: This article highlighted some treatment options that went ill described or not mentioned by other articles in my research as well as providing insight on the roles of doctors and nurses caring for patients diagnosed with CMT. This information will be very useful in depicting a patients and doctors experience with CMT in my paper.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Annotation8: Charcot Marie Tooth (CMT)- Modifiers toCMT1A,New Causes of CMT2(INC-6602)

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Wayne State University. "Genetics of Charcot Marie Tooth(CMT)-Modifiers of <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">CMT1A,NewCauses ofCMT2 (INC-6602)." //Clinicalrials.GOV//. N.p., 9 Aug. 2010. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Web. 23 Oct. 2010. <http://clinicaltrials.gov/ct2/show/ <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">NCT011930888?term=Charcot-Marie-Tooth+Disease&ra>. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Authors Credentials: The authors of this article are the staff of the Wayne State University known for it's research for CMT disease.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Purpose: Research/Informative a combination serve and research project for the general public.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Summary: This project is a combination of two projects looking for new genes that cause axonal forms of CMT and genes that do not cause CMt, but modify a persons symptoms.Study details provided by the WSU have resulted in primary outcomemeasures that show while the same gene change occurs in type 1A gene modifiers and extra copy of PMP22 causes CMT1A. It is unclear why some patients have more severe symptoms and some are less severe. Researches are searching for genetic modifiers or changes in Dna that may be causing the variation in symptoms. Only about 35% of people with the axonal forms CMT2 have a known genetic cause. Research is being conducted for additional genetic causes for CMT2. Biospecimen Retention or samples with DNA are being extracted from whole blood for filter cards with blood spots to test CMT. Patients that are participatings in Inherited Neuropathies Consortium(INC)-6601 and meeting eligibility criteria for the study can be recruited to participate.. A patient must show up in person at one of the clinical sites that are involvedin the study. For the Type 1A study the patient must have a documented PmP22 duplication or first or second degree relativewith a documented PMP22 duplication and a clear link between said family memer and a phenotype consistent with CMT1A. Acertain link betweena second-degree relative is necessary. Patients that have agreed to participatein the study must sign a consent form and assent form. CMT2 exome project participantsmust demonstrate axonal neuropathy on nerve conducted studies and velocities greater than 38 m/s.The patient must also have a first or second degree family member with a clear link similar to that of CMT1A. Participation included the ability to complete all aspects of the study including providinginformed consent, a riet pphysical examination, and providing a DNA sample. The article also includes clinics that are participating in this study both in the United States and foriegn countries.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Evaluation: This article was helpful in providing certain information on the genetic studies being conducted on CMT patients that the other articles did not specify. This article was thouroghly researched and informative.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Reflection: this article has provided useful details into the specifics of testing for CMT that can help me elaborate and depict the implications of CMT testing and what is needed in order for these experiments to take place

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;"> <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">Annotations9: Evolution of foot manifestations in children with Charcot-Marie-Tooth Disease <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">Author’s Credentials: Joshua Burns has a license in Biomedicine and works in the 1st congress of the International Foot & Ankle Biomechanics. Monique M. Ryan works for the Institution for Neuromuscular Research, The Children’s Hospital at Westmead/Discipline of Paediatrics and Child Health, Faculty of Medicine at the University of Sydney, NSW, Australia. Robert A. Ouvier works in the Neurosciences Department, Royal Children’s Hospital/Murdoch Children’s Research Institute in, Melbourne, Victoria, Australia. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">Scope/purpose: The work is a write up of a study performed to test the evolution or progression of foot deformities in children diagnosed with CMT. It is an informational piece on the study performed. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">Summary: CMT is the most common genetic disorder with CMT type 1A being characterized by demyelinating neuropathy with progressive weakness in the feet and ankles, contractures, and deformity. The wide range of manifest deformities in CMT type 1A may complicate assessment, diagnosis and therapy. In the study 81 children ages 2-16 yrs. With CMT type 1A were assessed for strength in dorsiflexion, plantarflexion, inversion, and eversion with hand-held dynamometry, ankle dorsiflexion flexibility using a weight bearing lunge and foot morphology, with the Foot Posture Index. Difficulties in heel or tip-toe walking, foot drop during gait, and questioned about foot/ankle pain, cramps, ankle instability, trips and falls during walking were looked for and examined. The results abserved were as follows: Mean strength: dorsiflexion 55N(SD,20), plantarflexion 175N (SD,49), inversion 76N (SD,29), eversion 63N (SD,24). While age (r= 0.65-0.80, p< 0.001) correlated with foot strength. Compared to age-equivalent norms the mean strength was lower in all ages of adolescence CMT type 1A. The range of ankle dorsiflexion was from 7-41’ (mean 25’, SD 7). Compared to normal ankle flexibility was lower in children at all ages with CMT type 1A. There were no significant correlations between ankle flexibility and age, height, or body weight. Foot morphing ranged from a FPI of -12 to +11 (mean 2, SD 5) .35% of children who exhibited pes cavus, 39% had normal feet and 26% had pes planus. A significant correlation between FPI and age (r=-0.47, p<0.001), indication the evolution of pes cavus during the patients growth. In comparison to norms or normal statistics, foot morphing in preschool age children with CMT type 1A did not differ, but from the age of 5 years and up deviated from normal towards a more cavoid appearance. Results showed difficulty in heel walking occurred in 82% of children, 4% had difficulty tip-toe walking and 4% exhibited foot drop. 27% of patients reported foot pain, 36% reported cramps, 72% described ankle instability, 63% reported frequent trips and 47% frequent falls. Foot pain, cramps, toe-walking and foot drop worsened with age p<0.05. The study concluded that children with CMT1A develop foot weakness, contracture and deformity from an early age and the manifestations are expected to impact highly negatively on daily function. Early intervention in targeting the foot and ankle may prevent long-term disability in CMT type 1A patients. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">Evaluation: This article was helpful in that it outlined a study done on behalf of a specific type of CMT as well as elaborating on that type providing useful information on that type of CMT. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">Reflection: This source has been useful in providing insight on a common study performed to evaluate CMT disease. This could prove very useful in my article in elaborating on CMT studies.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Annotation 10: Charcot-Marie-Tooth Disease: Recent Studies <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Kedlaya, Divakara, MBBS. "Charcot-Marie-Tooth Disease." //eMedicine//. Ed. James K <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">DeOrio, MD, et al. Medscape, 9 Sept. 2010. Web. 28 Oct. 2010. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;"><http://emedicine.medscape.com/article/1232386-print>. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Authors Credentials: Divakara Kedlaya is a Clinical Associate Professor in the Department of Physical Medicine and Rehabilitation at the Loma Linda University School of Medicine. She is also the Medical Director, PM&R and Pain Management at St. Mary Corwin Medical Center in Pueblo, CO. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Scope & Purpose: Informational report on CMT. Research done on behalf of CMT. Orthopedics involved with CMT. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Summary: <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Recent Studies: Using ultrasound findings in peripheral nerves of patients with CMT 1B reveals that those with CMT B1 have larger median and vagus nerves than those of healthy individuals no difference in cranial nerve size between patients with CMT 1B who had cranial neuropathies and those with CMT 1B who did not. Studies of long-term results of surgical reconstruction procedures for cavovarus deformities in 25 patients who had undergone the procedure between 1970-1994 were evaluated at duration of follow-up of roughly 26 years. Researchers found that using soft-tissue procedures and first metatarsal osteotomy results in lower rates of degenerative changes and reoperations compared to results of the triple arthrodesis procedure. Dr. Burns examined 84 children ages ranging 2-16 yrs. With Type 1A to characterize hand strength and function noting that the foot and leg areas are believed to be affected first. Follow up studies on hand weakness and dysfunction found that these symptoms were present even at the earliest stages of the disease. Currently no treatment is available to reverse of slow the natural disease process for CMT. Nothing can correct the abnormal myelin around the nerve or prevent it's degeneration or axonal degeneration. Through better understanding of genetics and biochemistry of the disorder offers optimism for a cure. Orthopedic surgery is required to treat severe pes cavus deformities, scoliosis, and other joint deformities. There are three different types of surgical procedures for CMT Soft tissue, Osteotomy, and Joint stabilizing. The initial procedure is a radical plantar or plantar-medial release with a dorsal closing-wedge osteotomy for the first metatarsal base if necessary. The Coleman block test is sometimes used to assist in deciding what type of surgery is best for what condition,. THe test is performed by placing the patient's foot on a wood block that's about 2.5 cm thick, with the heel and lateral border of the foot on the block and bearing full weight while the toes hang freeling into plantar flexion and pronation. If the heel varus corrects while the patient is standing on the block the hindfoot is flexible but if the subtalar joint is supple and corrects with the block test surgical procedures may be directed at correcting forefoot pronation, typically due to plantar flexion in the first metatarsal. If the hindfoot is rigid then surgical correction of the forefoot and hindfoot is required. Triple arthrodesis serves as a salvage procedure for patients with untreated fixed deformities. Children younger than eight years old with supple hindfeet usually respond to plantar releases and appropriate tendon transfers, a first metatarsal osteotomy could be needed in some cases. Children younger than tweleve years of age with rigid hindfoot deformities may need radical plantar-medial release, first metatarsal osteotomy, and Dwyer lateral closing-wedge osteotomy of the calcaneus to correct the deformities. Generally children with CMT suffering from spinal deformitites can be treated with the same techniques for idiopathic scoliosis. Those with CMT should avoid drugs and medications known to cause nerve damage such as vincristine, isoniazid, and nitrofuratoin.Patient listings are followed. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%; margin: 0in 0in 10pt;">Evaluation:This article has been helpful in detaling and outlining procedures and specifics for the barying types of CMT and has provided information that my other articles have not such as specific orthopic information and treatments used for those suffering from CMT. <span style="font-family: 'Times New Roman','serif'; font-size: 12pt; line-height: 115%;">Reflection: This article has been very useful in describing the different orthopedic procedures undergone by CMT patients as well as implications of the different types of the disease and their treatments and complications. This information will be very usefull in elaborating in the need for a cure for CMT.