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Topic: Charcot-Marie-Tooth

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Charcot-Marie-Tooth disease - Wikipedia, the free encyclopedia Charcot-Marie-Tooth disease, also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is an inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease. Usually, the initial symptom is foot drop due to involvement of the peroneal nerve, which is responsible for raising the feet, early in the course of the disease. The diagnosis is established by electromyography examination (which shows that the velocity of nerve impulse conduction is decreased and the time required to charge the nerve is increased) and nerve biopsy. en.wikipedia.org /wiki/Charcot-Marie-Tooth_disease   (785 words)

CHARCOT-MARIE-TOOTH DISEASE Charcot-Marie-Tooth disease is an inherited degenerative disorder of the central and peripheral nervous system that results in muscle atrophy and loss of proprioception in the affected areas (Alexander and Johnson, 1987). Charcot-Marie-Tooth disease is usually an autosomal dominant trait which initially manifests in the foot and legs, and subsequently may progress to the hand and forearm. Charcot-Marie-Tooth disease is a demyelinating, hypertrophic neuropathy involving peripheral nerves, typically causing bilateral, symmetrical muscle weakness and atrophy (Downey et al, 1992). www.podiatry.curtin.edu.au:16080 /encyclopedia/ciecle   (3901 words)

Charcot-Marie-Tooth Disease The disease is caused by mutations in the RAB7 gene. A genetic disorder in mouse known as Trembler Disease and caused by a defect in a myelin protein called PMP-22 was located in a region of the mouse chromosome known to contain the same genes as the CMT1A region in humans. 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). www.chg.duke.edu /diseases/cmt.html   (1383 words)

Charcot-Marie-Tooth Disease - podiatrychannel Charcot, Marie, and Tooth are the names of the physicians who identified the disease and described its symptoms. It is not the same as Charcot's foot disease, a neuropathic joint disease that is a common complication of diabetes mellitus. CMT is caused by an inherited genetic mutation. podiatrychannel.com /charcot   (464 words)

Charcot-Marie-Tooth Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS) Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves. ninds.nih.gov /disorders/charcot_marie_tooth/charcot_marie_tooth.htm   (580 words)

Orthoseek Orthopedic Topics Charcot-Marie-Tooth Disease Charcot-Marie-Tooth disease is also known as HMSN Type I, and is the most common disease in the group. Charcot-Marie-Tooth disease or Peroneal Muscular Atrophy is the commonest disease within a group of conditions called Hereditary Motor and Sensory Neuropathies (HMSN). The disease is hereditary, and is inherited as an autosomal dominant trait. www.orthoseek.com /articles/cmtdisease.html   (296 words)

Charcot-Marie-Tooth disease - Genetics Home Reference Mutations in the EGR2, GARS, GDAP1, GJB1, HSPB1, KIF1B, LITAF, LMNA, MFN2, MPZ, MTMR2, NDRG1, NEFL, PMP22, PRX, RAB7, and SBF2 genes cause Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease is caused by changes in several different genes that are essential to the function of nerves in the feet, legs, and hands. Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 115,000 people in the United States. ghr.nlm.nih.gov /condition=charcotmarietoothdisease   (1031 words)

Hospital Practice: Charcot-Marie-Tooth Disease In 1886, the French physicians Jean Martin Charcot and Pierre Marie, and independently the English physician Howard Henry Tooth, described an insidious, slowly progressive atrophy of distal limb muscles that would eventually be recognized as the most common inherited disorder of the peripheral nervous system. Nelis E et al: Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European Collaborative Study. In seeking the genetic basis of any disease, the possibility of a gene-dosage effect instead of an intragenic mutation must now be entertained. www.hosppract.com /genetics/9705gen.htm   (5259 words)

CHARCOT MARIE TOOTH 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. Scientists are exploring the basic areas of nerve function, development, degeneration, and of nerve muscle interaction to uncover the underlying pathological process in Charcot-Marie -Tooth disease. The disease is usually inherited as a dominant trait in both the hypertrophic and neuronal types. www.mda.org.au /specific/mdacmt.html   (787 words)

Charcot Marie Tooth Disease Charcot Marie Tooth hereditary neuropathies are a group of disorders in which the motor and sensory peripheral nerves are affected, resulting in muscle weakness and atrophy, primarily in the legs and sometimes in the hands. Charcot Marie Tooth hereditary neuropathy can be inherited in an autosomal dominant, autosomal recessive or X-linked mode of inheritance. It is possible that the main title of the report Charcot Marie Tooth Disease is not the name you expected. www.peacehealth.org /kbase/nord/nord261.htm   (418 words)

Charcot-Marie-Tooth disease X-linked diseases are passed from mother to son through one of the mother's genes in a pattern called X-linked recessive inheritance. It may be possible to use these cells to replace the damaged or diseased cells that cause CMT or to repair nerves damaged by the effects of the disease. CMT disease is a general term for a group of inherited diseases involving a defective gene (mutation). www.cnn.com /HEALTH/library/DS/00557.html   (1865 words)

Charcot-Marie-Tooth-Disease -- eCureMe.com Charcot-Marie-Tooth disease causes destruction of the peripheral nerves. There are also sporadic cases without a family history of Charcot-Marie-Tooth disease. In both types, the nerves of both lower limbs are commonly affected and symptoms of the hand may appear in later stage of disease. www.ecureme.com /emyhealth/data/Charcot-Marie-Tooth-Disease.asp   (260 words)

Charcot-Marie-Tooth disease (hereditary) Information on Healthline Charcot-Marie-Tooth diseases involve damage to nerves (neuropathy), usually from loss of the electrical insulation (myelin) around nerve fibers. At least 4 genes have been discovered to be the cause of this group of diseases. Nerve conduction tests are often performed to distinguish axonal from demyelinating forms of the disorder. www.healthline.com /health/genetic_disorders/000727.html   (598 words)

genome.gov Learning About Charcot-Marie-Tooth Disease Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. There are two articles by Divakara Kedlaya, MBBS, Associate Professor, Department of Physical Medicine and Rehabilitation, Loma Linda University Medical Center, about Charcot-Marie-Tooth Disease at the eMedicine Journal Web site. A list of links for information about Charcot-Marie-Tooth including clinical trials, testing and research. www.genome.gov /11009201   (483 words)

Charcot-Marie-Tooth disease (www.whonamedit.com) Charcot-Marie-Tooth disease, the so-called neural or spinal form of muscular atrophy, is the commonest disease within a group of conditions called Hereditary Motor and Sensory Neuropathies (HMSN). The classic descriptions of this disorder were published in 1886 by Jean-Martin Charcot and Pierre Marie in France and by Howard Henry Tooth in London, summarizing treatment by Hoffmann in 1889. With his pupil, Pierre Marie, Charcot in February 1886 described five cases of this progressive muscular atrophy, which was assumed to be caused by myelopathy. www.whonamedit.com /synd.cfm/30.html   (433 words)

eMedicine - Charcot-Marie-Tooth Disease : Article by Divakara Kedlaya, MBBS This disease was referred to as Hoffman disease and later was known as Charcot-Marie-Tooth-Hoffman disease. Tooth was the first to attribute symptoms correctly to neuropathy rather than to myelopathy, as physicians previously had done. With the advent of genetic testing, all of the diseases that fall under the heading of CMT syndrome eventually are likely to become distinguishable. www.emedicine.com /orthoped/topic43.htm   (6495 words)

Facts About Rare Muscular Dystrophies Charcot-Marie-Tooth disease (CMT) is a neurological disorder, named after the three physicians who first described it in 1886 — Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom. There are even more names for CMT because the disease exists in many different forms, each unique in its severity, age of onset, progression and exact symptoms. For example, Dejerine-Sottas disease (DS) is a severe form of CMT that manifests during infancy. www.mdausa.org /publications/fa-cmt.html   (4065 words)

Welcome to the Charcot-Marie-Tooth Association It is not a substitute for professional medical advice or a medical exam and should not be used to diagnose, treat, cure or prevent any disease or condition. Always seek the advice of your physician or other qualified health professional before starting any new treatment. www.charcot-marie-tooth.org   (118 words)

MedlinePlus: Charcot-Marie-Tooth Disease The primary NIH organization for research on Charcot-Marie-Tooth Disease is the National Institute of Neurological Disorders and Stroke Charcot-Marie-Tooth Disease (National Institute of Neurological Disorders and Stroke) Charcot-Marie-Tooth Disease and Dejerine-Sottas Disease (Muscular Dystrophy Association) www.nlm.nih.gov /medlineplus/charcotmarietoothdisease.html   (146 words)

Charcot-Marie-Tooth disease definition - Medical Dictionary definitions of popular medical terms Charcot-Marie-Tooth disease: A genetic disease of nerves characterized by progressively debilitating muscle weakness, particularly of the limbs. Charcot-Marie-Tooth is one of the more frequent genetic diseases and the most common genetic disease of peripheral nerves. Jean Charcot (1825-1893) was a celebrated professor of neurology in Paris (and was Sigmund Freud's mentor). www.medterms.com /script/main/art.asp?articlekey=13609   (354 words)

Charcot-Marie-Tooth Disease / Family Village Library Charcot-Marie Tooth Disease (CMT) is the most common neuromuscular disease in the world. CMT US shares resources, positive living strategies, practical suggestions, and new treatment paradigms for Charcot Marie Tooth Disease(CMT), also known as Hereditary Motor and Sensory Neuropathy. This site is for individuals who have or deal with Charcot-Marie-Tooth Disease. www.familyvillage.wisc.edu /lib_cmtd.htm   (218 words)

Charcot-Marie-Tooth CMT disease world portal - CMT patient support, charcot marie tooth syndrome disorder Charcot-Marie-Tooth CMT disease world portal - CMT patient support, charcot marie tooth syndrome disorder An estimated one in 15 people suffer from neuropathic pain, which is often characterized by burning, stabbing, shooting, tingling and/or shock-like sensations. A new study at the Children’s Hospital of Eastern Ontario has been launched to investigate the incidence of sleep-related breathing problems (including sleep apnea) in children with neuromuscular diseases. www.hnf-cure.org   (523 words)

Energy Citations Database (ECD) - Energy and Energy-Related Bibliographic Citations described 2 patients with Charcot-Marie-Tooth (CMT) disease who later developed cutaneous malignant melanoma. Although the development of the two diseases in the same patient may have occurred by chance, the authors raised the possibility of a shared neural crest defect or a genetic linkage. His brother showed the same disease, but the parents were not examined. www.osti.gov /energycitations/product.biblio.jsp?osti_id=518300   (209 words)

Find in a Library: Charcot-Marie-tooth disease a medical dictionary, bibliography, and annotated research guide to internet references Charcot-Marie-tooth disease a medical dictionary, bibliography, and annotated research guide to internet references Find in a Library: Charcot-Marie-tooth disease a medical dictionary, bibliography, and annotated research guide to internet references WorldCat is provided by OCLC Online Computer Library Center, Inc. on behalf of its member libraries. worldcatlibraries.org /wcpa/ow/3c2bf6eda002699ba19afeb4da09e526.html   (74 words)

Muscular Dystrophy Association Diseases -Charcot-Marie-Tooth Disease (CMT) (aka HMSN or Peroneal Muscular Atrophy (PMA)) Diseases -Charcot-Marie-Tooth Disease (CMT) (aka HMSN or Peroneal Muscular Atrophy (PMA)) Government Funds Quality-of-Life Studies in Neuromuscular Diseases 10/04 Click on your state for local offices in www.mdausa.org /disease/cmt.cfm   (446 words)

Charcot-Marie-Tooth Disease MDA~Charcot-Marie-Tooth Disease (CMT) (Also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy (PMA))...A Guide to Related Materials on MDA's Web Site I got my Jazzy 1120 Power Chair 7/10/00 www.geocities.com /parrotsville/C-M-T.html   (568 words)

Journal Articles Written About Charcot-Marie-Tooth Disease "Charcot Marie Tooth disease, suxamethonium and malignant hyperthermia triggering agents", Mills P.; Anaesthesia. "3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot Marie Tooth Type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands.", Neuromuscul Disord. "Anesthetic management of a patient with Charcot-Marie-Tooth disease", Shimo K.et al; HOKURIKU J. "General anesthesia using a laryngeal mask and anesthesia by epidural catheter in a case of Charcot Marie Tooth type I disease", Canovas L, et al; Rev Esp Anestesiol Reanim. www.geocities.com /dgosling_rn/journal.html   (568 words)

eMedicine - Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type : Article by Francisco de Assis Aquino Gondim, MD, MSc, PhD The inherited Charcot-Marie-Tooth peripheral neuropathies (CMT) were first described independently by Charcot and Marie in France (Charcot, 1886) and by Tooth in England (Tooth, 1886). Warner LE, Hilz MJ, Appel SH: Clinical phenotypes of different MPZ (P0) mutations may include Charcot- Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Charcot JM: Sur une forme particulaire d'atrophie musculaire progressive souvent familial debutant par les pieds et les jambes et atteingnant plus tard les mains. www.emedicine.com /neuro/topic718.htm   (568 words)

Charcot-Marie-Tooth disease - Genetics Home Reference Type X Charcot-Marie-Tooth disease is caused by a mutation in the GJB1 gene, and intermediate forms of the disorder are caused by an altered DNM2 or YARS gene. Type 4 Charcot-Marie Tooth disease is caused by mutations in the following genes: GDAP1 (subtype 4A), MTMR2 (subtype 4B1), SBF2 (subtype 4B2), SH3TC2 (subtype 4C), NDRG1 (subtype 4D), EGR2 (subtype 4E), and PRX (subtype 4F). ghr.nlm.nih.gov /ghr/disease/charcotmarietoothdisease   (1256 words)

Dr. Koop - Charcot-Marie-Tooth Disease- Health Encyclopedia and Reference Charcot-Marie-Tooth disease is named for French neurologists Jean M. Charcot and Pierre Marie, and British neurologist Howard Tooth, who simultaneously described the disorder in 1866. It also known as hereditary sensory motor neuropathy, and peroneal muscular atrophy (PMA). www.drkoop.com /encyclopedia/93/678.html   (1256 words)

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