41. Genetics Research: Charcot Marie Tooth charcotmarie-tooth disease Type 1A. Principal Investigator PragnaI. Patel, Ph.D. Autosomal dominant inheritance pattern; Frequency http://www.bcm.tmc.edu/neurol/research/genes/genes3.html

Charcot-Marie-Tooth Disease Type 1A Principal Investigator: Pragna I. Patel, Ph.D. Autosomal dominant inheritance pattern Frequency: ~ 1 in 2,500 (most common inherited peripheral neuropathy) Signs/symptoms include: distal muscle atrophy, decreased nerve conduction velocity, absent deep tendon reflexes, pes cavus, pes planus Our recent discoveries include: CMT1A associated in >70% of patients with a 1.5 million base pair DNA duplication on chromosome 17 Peripheral myelin protein 22 (PMP22) gene mapped within the duplication Point mutations in PMP22 also associated with CMT1A Current efforts include studying the regulation of the PMP22 gene and using triplex oligonucleotides as a possible approach for modulating PMP22 expression. Selected References: Patel, P.I., and Lupski, J.R. Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease. Trends. Genet., 10:128-133, 1994. Patel, P.I., Roa, B., Welcher, A., Schoener-Scott, R., Trask, B.J., Pentao, L., Snipes, G.J., Garcia, C.A., Francke, U., Shooter, E., Lupski, J.R., and Suter, U. The gene for the peripheral myelin protein PMP-22 gene is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genetics, 1:159-165, 1992. Lupski, J.R., Montes de Oca-Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B.J., Saucedo-Cardenas, O., Barker, D.F., Killian, J.M., Garcia, C.A., Chakravarti, A., and Patel, P.I. DNA duplication associated with Charcot- Marie-Tooth disease type 1A. Cell, 66:219-232, 1991.

42. Charcot-Marie-Tooth Disease (CMT) charcotmarie-tooth disease (CMT). What is it? Charcot-Marie-ToothDisease (CMT) is an inherited disorder that affects the nerves http://www.hmc.psu.edu/healthinfo/c/cmt.htm

43. Member Sign In Preliminary Study of Large and Small Peripheral Nerve Fibers in CharcotMarie-ToothDisease, Type I. Hanson P, Deltombe T Am J Phys Med Rehabil 1998; 77(1)45-8 http://www.medscape.com/viewarticle/431507

If you are having trouble logging in: In order to use Medscape, your browser must be set to accept "cookies." To find out how to adjust your browser settings, please click here Log In Username Password Forgot your password? Not a Member? Register Now for free access to: MEDLINE (Optimized for Physicians) 200+ Free CME Courses 25 Medical Specialty Sites 100+ Medical Journals Conference Coverage Daily Medical News About Medscape Help WebMD Health

44. Charcot-Marie-Tooth Disease Edit this Page Attachments to this Page History of this Page Home Recent ChangesSearch the Swiki Help Guide charcotmarie-tooth disease. NICE JOB! http://pbl.cc.gatech.edu/mindy/815

Charcot-Marie-Tooth Disease NICE JOB! Strong list of references and good organization. Your links and images are outstanding and really add to the presentation. Only thing lacking is history (How was this name derived anyway?) 97 MMS CMT is named after 2 French doctors, Charcot and Marie and Howard Henry Tooth of England who simultaneously found disease symptoms in late 19th century Europe. For more current information try this unique global, email discussion group at http://www.groups.yahoo.com/group/CMTUS A Neuron of the Peripheral Nervous System Courtesy of Univerity of Washington CHARCOT MARIE TOOTH DISEASE What is Charcot-Marie-Tooth Disorder? Incidence Rate of Charcot-Marie-Tooth Disorder in the Population Physiological Dysfunction of Charcot-Marie-Tooth Disorder Types of Charcot-Marie-Tooth Disorder ... Important CMT Medical Alert Link to this Page Fall 2002 HPS/BIOL 3751 Project topics last edited on 5 December 2002 at 12:36:17 pm by bh107-02.che.gatech.edu

45. History Of Charcot-Marie-Tooth Disease History of charcotmarie-tooth disease. Version, Name, User, Date, Time. current,charcot-marie-tooth disease, 63.116.28.123, 20 January 2003, 40938 pm. http://pbl.cc.gatech.edu/mindy/815.history

History of Charcot-Marie-Tooth Disease This document contains a history of this page, from the current version to the earliest one available. Version Name User Date Time current Charcot-Marie-Tooth Disease 20 January 2003 4:09:38 pm Charcot-Marie-Tooth Disease hps0084484.hps.gatech.edu 10 December 2002 10:09:13 am Charcot-Marie-Tooth Disease hps0084484.hps.gatech.edu 10 December 2002 9:54:06 am Charcot-Marie-Tooth Disease hps0084484.hps.gatech.edu 10 December 2002 9:51:48 am Charcot-Marie-Tooth Disease w205d66.lawn.gatech.edu 6 December 2002 6:39:16 pm Charcot-Marie-Tooth Disease w205d66.lawn.gatech.edu 6 December 2002 6:38 pm Charcot-Marie-Tooth Disease w205d66.lawn.gatech.edu 6 December 2002 6:37:47 pm Charcot-Marie-Tooth Disease w205d66.lawn.gatech.edu 6 December 2002 6:37:37 pm Charcot-Marie-Tooth Disease w205d66.lawn.gatech.edu 6 December 2002 6:37:27 pm Charcot-Marie-Tooth Disease w205d66.lawn.gatech.edu 6 December 2002 6:37:18 pm Charcot-Marie-Tooth Disease w205d66.lawn.gatech.edu 6 December 2002 6:37:06 pm Charcot-Marie-Tooth Disease w205d66.lawn.gatech.edu

46. Charcot-Marie-Tooth Disease - Tutorial The first cases of charcotmarie-tooth disease (CMT) were reported in 1855 by Aranand Virchow. Sabir M, Lyttle D. Pathogenesis of charcot-marie-tooth disease. http://ortho.hyperguides.com/Tutorials/pediatric_ort/charcot-marie/tutorial.asp

window.location="http://www.ortho.hyperguides.com/"; Charcot-Marie-Tooth Disease Henry Boucher, MD History Classification Genetics Clinical Features ... References History The first cases of Charcot-Marie-Tooth disease (CMT) were reported in 1855 by Aran and Virchow. They described patients with lower extremity weakness followed by upper extremity involvement. In 1886, Charcot and Marie, simultaneously with Tooth, published on the disease bearing their names. Classification CMT is the prototype disease of the numerous hereditary motor sensory neuropathies (HMSN). The HMSNs are classified into 7 types, with I, II, and III particular to pediatric orthopedics. The other types of HMSNs occur later in life. Type Classification I The hypertrophic form of CMT, also known as Roussy-Levy disease. It has autosomal dominant inheritance. Clinically, it is a demyelinating disease with distal extremity weakness, no DTR, and slow motor NCV. II The neuronal form of CMT. This type has a variable inheritance. Clinically, this form is less severe than type I and displays a mild decrease in NCVs and present DTRs. The onset of disease is later than type I. III IV Known as Refsum's disease, this type is characterized by excessive phytanic acid (a fatty acid).

47. Pediatrics: Charcot-Marie - Tooth Disease charcotmarie-tooth disease Henry Boucher, MD. Paul D. Sponseller,MD Professor and Head of the Division of Pediatric Orthopedics http://ortho.hyperguides.com/Tutorials/pediatric_ort/charcot-marie/default.asp

window.location="http://www.ortho.hyperguides.com/"; Charcot-Marie-Tooth Disease Henry Boucher, MD Paul D. Sponseller, MD Professor and Head of the Division of Pediatric Orthopedics The Johns Hopkins Hospital Baltimore, Maryland

48. Charcot-Marie-Tooth Disorders - For Patients And Families - The Center For Human What is charcotmarie-tooth disease? charcot-marie-tooth disease (CMT) is themost common inherited disease that affects the peripheral nerves in humans. http://www.chg.duke.edu/patients/cmtd.html

For Patients and Families Charcot-Marie-Tooth Disorders What is Charcot-Marie-Tooth Disease? Classification of CMT Genetic Testing in CMT1A and CMTX CMT Research at the Duke CHG ... Additional CMT Information What is Charcot-Marie-Tooth Disease? Charcot-Marie-Tooth disease (CMT) is the most common inherited disease that affects the peripheral nerves in humans. These nerves carry signals from the spinal cord to the muscles for strength and movement and from the sensory organs to the spinal cord for appreciation of touch, pain, temperature, and position. Signs of CMT include weakness and loss of muscle bulk in feet, lower legs, and hands with some decrease in the sensation of touch and pain. Symptoms can be quite variable even within families. The disabilities experienced range from mild to severe because of muscle weakness and less often because of sensory loss. The many different forms of CMT taken together affect one in 2,500 persons in the general population. More ...

49. Major Classes Of Charcot-Marie-Tooth Disorders - For Patients And Families - The For Patients and Families CharcotMarie-Tooth Disorders Major Classesof charcot-marie-tooth disease. CMT1. CMT inherited as an autosomal http://www.chg.duke.edu/patients/cmtsum.html

For Patients and Families Charcot-Marie-Tooth Disorders Major Classes of Charcot-Marie-Tooth Disease CMT inherited as an autosomal dominant disease has a classic CMT presentation where the motor symptoms (muscle weakness) is much more of a problem to the patient than the sensory changes. This is probably the most common form of the disorder. HNPP: Hereditary Neuropathy with liability to Pressure Palsies (HNPP) is a distinct peripheral nerve disease both clinically and pathologically. Pressure on a specific nerve(s) result in weakness in muscles activated by the nerve(s). Although occasionally diagnosed as CMT, it can usually be differentiated by its more "patchy" findings. Sausage-like swellings are seen in myelin of these nerves when viewed under the microscope. In the families reported, HNPP follows autosomal dominant inheritance and is caused by a deletion of the same genetic material that is duplicated in CMT1A (the PMP-22 gene on chromosome 17). Dejerine-Sottas Disease: Dejerine-Sottas disease is named after the physicians who described the first cases. Patients have an earlier onset of more severe symptoms than those usually diagnosed by other forms of CMT. However, it turns out that the disease can be caused by point mutations in either the PMP-22 gene or the Po gene. In a pure molecular genetic sense, Dejerine-Sottas disease can be considered a form of CMT1.

50. CHARCOT MARIE TOOTH FACT SHEET. CHARCOT MARIE - TOOTH DISEASE What is Chacot-Marie-Toothdisease? How does a person get charcot-marie-tooth disease? http://www.mda.org.au/specific/mdacmt.html

FACT SHEET CHARCOT - MARIE - TOOTH DISEASE What is Chacot-Marie-Tooth disease? Charcot-Marie-Tooth disease is a hereditary disorder marked by slowly progressive muscle weakness in the feet, lower legs, hands and forearms, and a mild loss of sensation in limbs, fingers, and toes. The weakness results from the degeneration of nerves that stimulate muscle rather than from a degenerative process in the muscle tissue itself. The disorder, named for three physicians who first identified it in 1886, is also known as peroneal muscular atrophy because if primarily affects the peroneal muscles. which are located in the lower leg. There are now thought to be at least two types of the disease - hypertrophic and neuronal - that differ to some degree in severity. How disabling is the disease? In both types of Charcot-Marie-Tooth disease, there is normal life expectancy, limited disability, and very slow progression of the disease. Some patients, however, experience rapid progression and severe disability. What are the early symptoms?

51. Wheeless' Textbook Of Orthopaedics 1993. p 16991714. Spinal deformities in patients with charcot-marie-tooth disease.A review of 12 patients. Pathophysiology of charcot-marie-tooth disease. http://www.ortho-u.net/o16/94.htm

Main Menu Home Page Charcot Marie Tooth: (hereditary motor sensory neuropathy) - Discussion: type I type II , and type III are most common; - type IV: - is also referred to as Refsum disease; - associated w/ excess phytanic acid; - type V: - inherited spastic paraplegia with distal weakness in the limbs; - usually presents in the second decade of life or later; - patients develop awkward gait and equinus foot deformities; - type VI involves optic atrophy in association with peroneal muscular atrophy; - type VII is characterized by retinitis pigmentosa associated with distal muscle weakness in the limbs and atrophy; - Clinical Features: - patients may present w/ muscle cramps, difficulty with gait or w/ deformities of the feet; - upper extremity in CMT: - hip joint: look for proximal muscle weakness, and hip dysplasia; - pes cavus in CMT : - loss of proprioception and vibratory sensation is common in the lower extremities; - young patients should be checked for ataxia, as this might indicate Friedreich's Ataxia (rather than CMT);

52. Charcot-Marie-Tooth Disease (hereditary) charcotmarie-tooth disease (hereditary). Definition Charcot-Marie-Toothdisease defines a group of slowly progressive, inherited http://www.pennhealth.com/ency/article/000727.htm

Disease Injury Nutrition Poison ... Prevention Charcot-Marie-Tooth disease (hereditary) Definition: Charcot-Marie-Tooth disease defines a group of slowly progressive, inherited disorders that result from progressive damage to nerves. In addition to loss of sensation, there is wasting of muscle tissue in the feet and legs, then hands and arms. Alternative Names: Progressive neuropathic (peroneal) muscular atrophy; Hereditary peroneal nerve dysfunction; Neuropathy - peroneal (hereditary); Hereditary motor and sensory neuropathy Causes, incidence, and risk factors: Charcot-Marie-Tooth diseases involve damage to nerves (neuropathy), usually from demyelination or loss of the electrical insulation around nerve fibers. All nerves are affected, but motor nerves are disproportionately so. The nerves in the legs are affected first and most severely. Symptoms usually begin between mid-childhood and early adulthood. The disorder is inherited, with autosomal dominant and recessive as well as X-linked recessive inheritance patterns. At least four genes have been discovered to be the cause of this group of diseases. Charcot-Marie-Tooth disease causes destruction (degeneration) of the covering of the nerve cells ( myelin sheath) in some people. In other people, the

53. Charcot-Marie-Tooth Disease BACK TO FACT SHEETS INDEX. CHARCOTMARIE TOOTH DISEASE. What is Charcot-Marie-Toothdisease? Back to Top . How does a person get charcot-marie-tooth disease? http://www.mdansw.org/CMT.htm

BACK TO FACT SHEETS INDEX CHARCOT-MARIE TOOTH DISEASE What is Charcot-Marie-Tooth disease? How disabling is the disease? What are the early symptoms? How does the disease progress? ... The Muscular Dystrophy Association's Purpose and Programme What is Charcot-Marie-Tooth disease? Charcot-Marie-Tooth (CMT) disease is hereditary and is marked by slowly progressive muscle weakness in the feet, lower legs, hands, and forearms, and a mild loss of sensation in the toes, feet and fingers. The weakness results from the degeneration of nerves that stimulate muscle rather than from a degenerative process in the muscle tissues themselves. The disease, named for three physicians who first identified it in 1886, is also known as Peroneal Muscular Atrophy because it affects the nerves to the peroneal muscles, which are located in the lower leg. There are now known to be at least five genetic causes of the disease that lead to two distinct types of nerve disease - demyelinating (damage to nerve fibre insulation) or neuronal (damage to nerve fibres themselves). How disabling is the disease?

54. Health Library: All Topics: C: Charcot-Marie-Tooth Disease - Healthfinder® home health library all topics C charcotmarie-tooth disease.displaying 1–1 of 1 document see categories and related topics, http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=151

55. Experts, Consultants, Authorities - Charcot-Marie-Tooth Disease (CMT) Specialty charcotmarie-tooth disease (CMT). Physicians For Quality.1017 W. Hopkins San Marcos, Texas 78666 Tel 800-284-3627, Fax http://www.hgexperts.com/listing/Medical-Experts-Charcot-Marie-Tooth-Disease-CMT

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56. Charcot-Marie-Tooth Disease You are here Health topics Health conditions Neuromuscular system Otherconditions charcotmarie-tooth disease. charcot-marie-tooth disease. http://www.disability.vic.gov.au/dsonline/dsarticles.nsf/pages/Charcot_Marie_Too

57. Health Ency.: Disease: Charcot-Marie-Tooth Disease (hereditary) com Important notice. Ency. home Disease C CharcotMarie-Toothdisease (hereditary). charcot-marie-tooth disease (hereditary). http://www.austin360.com/shared/health/adam/ency/article/000727.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease C Charcot-Marie-Tooth disease (hereditary) Overview Symptoms Treatment Prevention Alternative names: Progressive neuropathic (peroneal) muscular atrophy; Hereditary peroneal nerve dysfunction; Neuropathy - peroneal (hereditary); Hereditary motor and sensory neuropathy Definition: Charcot-Marie-Tooth disease defines a group of slowly progressive, inherited disorders that result from progressive damage to nerves. In addition to loss of sensation, there is wasting of muscle tissue in the feet and legs, then hands and arms. Causes and Risks Charcot-Marie-Tooth diseases involve damage to nerves (neuropathy), usually from demyelination or loss of the electrical insulation around nerve fibers. All nerves are affected, but motor nerves are disproportionately so. The nerves in the legs are affected first and most severely. Symptoms usually begin between mid-childhood and early adulthood. The disorder is inherited, with autosomal dominant and recessive as well as X-linked recessive inheritance patterns. At least four genes have been discovered to be the cause of this group of diseases. Charcot-Marie-Tooth disease causes destruction (degeneration) of the covering of the nerve cells ( myelin sheath) in some people. In other people, the

58. Charcot-Marie-Tooth Disease charcotmarie-tooth disease. Definition charcot-marie-tooth disease(CMT) is the name for a group of inherited disorders of nerve http://www.chclibrary.org/micromed/00042210.html

Main Search Index Definition Description Causes ... Resources Charcot-Marie-Tooth disease Definition Charcot-Marie-Tooth disease (CMT) is the name for a group of inherited disorders of nerve conduction causing weakness and mild loss of sensation in the limbs. Description CMT affects the peripheral nerves, those groups of nerve cells carrying information to and from the spinal cord. CMT decreases the ability of these nerves to carry motor commands to muscles, especially those furthest from the spinal cord in the feet and hands. As a result, these muscles are weakened. CMT also causes mild sensory loss. CMT is named for the three neurologists who first described it, and does not involve the teeth in any way. It is also known as hereditary motor and sensory neuropathy, and is also sometimes called peroneal muscular atrophy, referring to the muscles in the leg affected early on in the disease. Causes The symptoms grouped together under the name CMT can be caused by any of at least six different genetic defects. Most of the defects, identified as of early 1998, affect myelin, the coating that insulates nerve cells to promote efficient conduction. Myelin defects cause either a reduction in nerve conduction velocities, or a diminished nerve signal. CMT is currently subdivided into type 1A, type 1B, type 2, and type X, based on the particular genetic defect involved. All but type X exhibit the inheritance pattern known as autosomal dominant. In this pattern, only one defective gene copy is needed to develop the disease, which may be inherited from either parent (who will also have the disease). A person with CMT of this type has a 50% chance of passing the gene along to each offspring. CMT type X is inherited as an X-linked trait, meaning the gene is carried on the X chromosome. Women carry two X chromosomes, while men carry only one. Without a "backup" copy of the normal gene, a man with the CMT type X gene is more likely to be seriously affected than is a woman. Expression of the gene does occur in women to a lesser extent, leading to disease of variable severity. Affected men may pass the gene on to their daughters, but not to their sons.

59. ORPHANET® : Charcot-Marie-Tooth Disease Translate this page ORPHANET. ORPHANET database access. Charcot-Marie-Toothdisease. Direct access to details Alias Home Page. http://www.orpha.net/static/GB/charcot_marie_tooth.html

ORPHANET database access Charcot-Marie-Tooth disease Direct access to details Alias : Home Page

60. Avera Health - Charcot-Marie-Tooth Disease (hereditary) charcotmarie-tooth disease (hereditary). Definition There is no known cure forcharcot-marie-tooth disease. Treatment is aimed at maximizing independence. http://www.avera.org/adam/ency/article/000727.htm

Disease Injury Nutrition Poison ... Central nervous system Charcot-Marie-Tooth disease (hereditary) Definition: Charcot-Marie-Tooth disease defines a group of slowly progressive, inherited disorders that result from progressive damage to nerves. In addition to loss of sensation, there is wasting of muscle tissue in the feet and legs, then hands and arms. Alternative Names: Progressive neuropathic (peroneal) muscular atrophy; Hereditary peroneal nerve dysfunction; Neuropathy - peroneal (hereditary); Hereditary motor and sensory neuropathy Causes, incidence, and risk factors: Charcot-Marie-Tooth diseases involve damage to nerves (neuropathy), usually from demyelination or loss of the electrical insulation around nerve fibers. All nerves are affected, but motor nerves are disproportionately so. The nerves in the legs are affected first and most severely. Symptoms usually begin between mid-childhood and early adulthood. The disorder is inherited, with autosomal dominant and recessive as well as X-linked recessive inheritance patterns. At least four genes have been discovered to be the cause of this group of diseases. Charcot-Marie-Tooth disease causes destruction (degeneration) of the covering of the nerve cells ( myelin sheath) in some people. In other people, the

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