61. Charcot-Marie-Tooth (CMT) 1B Hayasaka et al. 1993; Su et al. 1993). This indicates that both patientshave charcotmarie-tooth disease type 1B. Since the first http://www.athenadiagnostics.com/site/content/diagnostic_ed/case_studies/cmt1b.a

Charcot-Marie-Tooth (CMT) 1B CMT1B Case Study Two patients, father and son, presented since childhood with slowly progressive weakness, affecting the arms more than the legs, and numbness in the hands and feet (Thomas et al. 1994). There was no recurrent focal weakness, pain, or liability to pressure palsies. Findings were similar in father and son, but more pronounced in the former. Both had pes cavus deformity. The father had enlarged, firm peripheral nerves. Muscle strength was reduced to 4/5, being worse distally. Deep tendon reflexes were absent. Plantar responses were flexor. All sensory modalities were impaired. In addition, multiple living male and female relatives from four generations were affected. Myelin protein zero (MPZ) sequencing revealed a codon 96 mutation that substituted a positively charged lysine for a negatively charged glutamate in the extracellular region (Hayasaka et al. 1993; Su et al. 1993). This indicates that both patients have Charcot-Marie-Tooth disease type 1B. Since the first description of tomacula in Charcot-Marie-Tooth disease type 1B patients (Thomas et al. 1994), the association of hypermyelination with mutations in the extracellular domain of MPZ has been confirmed. Meanwhile mutations in the intracellular domain and in or near the transmembrane domain have been associated with hypomyelination and myelin uncompaction (Gabreels-Festen et al. 1996; Nakagawa et al. 1999; Lagueny et al. 1999).

62. Charcot-Marie-Tooth-Disease -- ECureMe.com charcotmarie-tooth disease, more about charcot-marie-tooth disease, Charcot-Marie-Toothdisease causes destruction of the peripheral nerves. http://www.ecureme.com/emyhealth/data/Charcot-Marie-Tooth-Disease.asp

March 30, 2003 Select a Health Topic ADD/ADHD Allergy Alternative Medicine Arthritis Asthma Beyond Dieting Body Aches and Pains Breast Cancer Cancer Awareness Cardio Health Children's Health Colon Cancer Contraception COPD/Emphysema Dental Health Diabetes Elder Care Emergency Room Epilepsy Erectile Dysfunction Eye Care Fertility Fitness Gastrointestinal Health Glands and Hormones Gynecologic Health Hair Loss Headache Healthcare Today Healthy Aging HIV and AIDS Infectious Diseases Kidney Health Leukemia Liver Health Lung Cancer Lymphoma Multiple Sclerosis Men's Health Mental Health Nutrition Osteoporosis Parkinson's Disease Sexual Health Skin Health Sleep Disorders Special Events Stroke Surgeries and Procedures Teen Health Thyroid Health Urologic Health Vascular Disease Women's Health Workplace Health Ask The Doctor Lifestyle Counseling Ask by mail My Health Chart ... Hospitals Charcot-Marie-Tooth Disease more about Charcot-Marie-Tooth Disease Hereditary sensorimotor neuropathies Charcot-Marie-Tooth disease is a type of peripheral Neuropathy , characterized by a slowly progressive weakness and wasting of the muscles in the upper and lower extremities. Charcot-Marie-Tooth disease causes destruction of the peripheral nerves.

63. Yahoo! Search Results charcotmarie-tooth disease CMT International UK - Support group for people withcharcot-marie-tooth disease. Ask Noah About charcot-marie-tooth disease. http://www.ability.org.uk/Charcot_Marie_Tooth_Disease.html

Our Aims Services Stats ... Z Charcot-Marie-Tooth Disease CMT International UK - Support group for people with Charcot Marie Tooth disease Ask Noah About: Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease ... Information Exchange - a hereditary progressive neuromuscular disorder that primarily effects the feet, legs and hands. Charcot-Marie-Tooth International - self-help, consumer run organization providing information for people with CMT around the world. Charcot-Marie-Tooth Association Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

64. PD & Charcot-Marie-Tooth Disease PD charcotmarie-tooth disease. This article submitted by Rick Buchananon 11/1/95. Does anyone know of a correlation between PD http://neuro-www.mgh.harvard.edu/neurowebforum/ParkinsonsDiseaseArticles/PDCharc

This article submitted by Rick Buchanan on 11/1/95. Does anyone know of a correlation between PD and CMT (also known as Hereditary Sensory-Motor Neuropathy)? I was diagnosed with CMT at 12 and Parkinson's at age 32 (I am now 37 a bit young for PD...) My rather primitive attempts at a Medline search found enough abstracts that I'm beginning to question whether this is just an unfortunate coincidence. Among the refs were several cases of full familial lines with both conditions. Since the gene for CMT (type 1A) has been located (the chromosome 17 "stutter"), I wonder if this might not be a clue to some (possible) hereditary facet of PD. Consider that Duvoison's update on his original twins study does point to a genetic connection of some kind. Strangely enough, I have I'd be interested in any opinions/comments anyone might have, especially from any of you research/physician types. I'm not a doctor (nor do I play one on TV) but I did my undergrad at Johns Hopkins (biochem) and have two siblings who are MDs, so I can follow most of the jargon.

65.  Charcot-Marie-Tooth Disease  charcotmarie-tooth disease charcot-marie-tooth disease, See molecular genetics- individual genetic disorders . Home Back Up . http://www.rcpa.edu.au/pathman/charcotm.htm

Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease See molecular genetics - individual genetic disorders

66. CHARCOT-MARIE-TOOTH DISEASE Pediatric Database (PEDBASE); Discipline CNS; Last Updated 12/24/94 CHARCOTMARIE-TOOTHDISEASE. DEFINITION Type I - charcot-marie-tooth disease. Type II. http://www.icondata.com/health/pedbase/files/CHARCOT-.HTM

Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 12/24/94 CHARCOT-MARIE-TOOTH DISEASE DEFINITION: A hereditary neurological disorder characterized by demyelination of motor nerves resulting in progressive distal muscle weakness. EPIDEMIOLOGY: incidence: 3.8/100,000 (prevalence) age of onset: usually begins in adolescence but variable from childhood to the end of the 5th decade risk factors: familial - autosomal dominant with 82% expressivity chrom.#: ? gene: ? M = F PATHOGENESIS: 1. Hereditary Motor-Sensory Neuropathies (HMSN) a group of hereditary disorders characterized by progressive distal muscle weakness also called Peroneal Muscular Atrophy motor nerves are predominantly affected with sensory and autonomic nerve involvement occurring later there are 3 clinical variants: Type I - Charcot-Marie-Tooth Disease Type II Type III - Dejerine-Sottas Disease can be subdivided into demyelinating (Types I + III) and non-demyelinating or neuronal (Type II) 2. Genetic Defect proximal muscle weakness is mild and a late manifestation with no involvement of the axial muscles CLINICAL FEATURES: 1. Neurological Manifestations

67. Nature Publishing Group Short Report. A new locus for autosomal dominant CharcotMarie-Toothdisease type 2 (CMT2F) maps to chromosome 7q11-q21. Shoukhrat http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v9/n8/abs/5200686a

68. µn¿ý¤§¿ò¶Ç¯e¯f¸ê®ÆÁ`ªí G. 13, charcotmarie-tooth disease 1A, 118220, 356.1, EMG report,Nerve biopsy, Mutation analyses, Family history, §ºª¤å. 14,Charcot http://www.genes.at-taiwan.com/Dis_list.asp

Disease Name¡G µn¿ý·s¨u¨£¯e¯f ¿ò¶Ç¯e¯f¦Cªí DisID DiseaseName OMIMNumber Control Angelman syndrome Karyotype FISH Methylation study Others ³¢«OÅï Argininemia Age of onset Peak ammonia level Citrulline level Enzyme or DNA proof ­J°È«G Argininosuccinic acidemia Age of onset Peak ammonia level Citrulline level Enzyme or DNA proof ­J°È«G Bulbospinal neuronopathy (Kennedy¡¦s disease) Mutation analyses Age at onset Family history EMG report Carnitine deficiency Age of onset Peak ammonia level Cardiac status Carnitine level ­J°È«G Charcot-Marie-Tooth disease 1A EMG report Nerve biopsy Mutation analyses Family history Charcot-Marie-Tooth disease 1B EMG report Nerve biopsy Mutation analyses Family history Charcot-Marie-Tooth disease 1C EMG report Nerve biopsy Mutation analyses Family history Charcot-Marie-Tooth disease 2A EMG report Nerve biopsy Mutation analyses Family history Charcot-Marie-Tooth disease 2B EMG report Nerve biopsy Mutation analyses Family history Charcot-Marie-Tooth disease 4A EMG report Nerve biopsy Mutation analyses Family history Charcot-Marie-Tooth disease 4B EMG report Nerve biopsy Mutation analyses

69. CMT - Recent CHG Publications - The Center For Human Genetics - Duke University Mutations in gangliosideinduced differentiation-associated protein-1 (GDAP1)are responsible for charcot-marie-tooth disease type 4A/8q13. http://wwwchg.mc.duke.edu/research/cmtx.html

Research and Publications Recent CHG Publications Charcot-Marie-Tooth Disorders Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM. Mutations in ganglioside-induced differentiation-associated protein-1 (GDAP1) are responsible for Charcot-Marie-Tooth Disease type 4A/8q13. Nature Genetics 30(1):21-22, 2002 Rochelle JM, Stajich J, Dew-Knight S, Baxter R, Gilbert J, Hamida MB, Pericak-Vance MA, Hentati F, Vance JM. Construction of a sequence contig across the CMT4A region. Acta Mylogica 20(1):33-34, 2001. Vance JM. The many faces of Charcot-Marie- Tooth disease. Archives of Neurology 57(5):638-640, 2000 Ben Othmane K, Johnson E, Menold M, Graham FL, Ben Hamida M, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance MA, Hentati F, and Vance JM. Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. Genomics 62(3):344-349, 1999 Vance JM. Charcot-Marie-Tooth disease type 2. Ann NY Acad Sci 883:42-46, 1999

70. Nervous System Malformations DejerineSottas - OMIM (US); charcot-marie-tooth disease (HMSN I, II)charcot-marie-tooth disease - CMTnet (US). Charcot-Marie-Tooth http://www.mic.ki.se/Diseases/c10.500.html

search help staff Nervous System Malformations Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Spinal Dysraphism About Spina Bifida N Feldstein ] - CPMC (US) Spina Bifida Fact Sheet from NICHCY Spina Bifida Discussions - NeuroWebForum, MGH (US) About Spina Bifida in Newborns - NOAH (US) Myelomeningocele and Spina Bifida - BethIsrael, N.Y. (US) Meningocele repair - Adam via MedlinePlus, and an image The Lipomyelomeningocele Family Support Network C McAfee Spina Bifida Association of Greater New Orleans - (US) The Queensland Assoc. for People with Spina Bifida or Hydrocephalus - (AU) Why Folic Acid is so Important - CDC (US) Spina Bifida Occulta About Tethered Cord Syndrome discussions - BrainTalk Communities, MGH Tethered Spinal Cord information - Lipomyelomeningocele Family Support Network Encephalocele Encephalocele synopsis - PEDBASE (US) About little Monica (Encephalocele) Encephalocele of the Brain - e-Atlas of Pathology/Univ of Connecticut (US) Encephalocele/Meningocele herniating into mastoid bone [several pages; click on image] - Metropolitan Ear Group, Inc.

71. NEJM -- Charcot-Marie-Tooth Disease Type 1A -- Association With A Spontaneous Po charcotmarie-tooth disease Type 1A Association with a Spontaneous Point Mutationin the PMP22 Gene Benjamin B. Roa, Carlos A. Garcia, Ueli Suter, Deanna A http://content.nejm.org/cgi/content/short/329/2/96

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 329:96-101 July 8, 1993 Number 2 Next Charcot-Marie-Tooth Disease Type 1A Association with a Spontaneous Point Mutation in the PMP22 Gene Benjamin B. Roa, Carlos A. Garcia, Ueli Suter, Deanna A. Kulpa, Carol A. Wise, Jane Mueller, Andrew A. Welcher, G. Jackson Snipes, Eric M. Shooter, Pragna I. Patel, and James R. Lupski Table of Contents Full Text of this article Find Similar Articles in the Journal Notify a friend about this article ... Related Articles in Medline Articles in Medline by Author: Roa, B. B. Lupski, J. R. Medline Citation ABSTRACT Background Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. CMT type 1A is associated with a 1.5-megabase (Mb) DNA duplication in region p11.2-p12 of chromosome 17 in most patients. An increased dosage of a gene within the duplicated segment appears to cause the disease. The PMP22 gene, which encodes a myelin protein, has been mapped within the duplication and proposed as a candidate gene for CMT type 1A. Methods We analyzed DNA samples from a cohort of 32 unrelated patients with CMT type 1 who did not have the 1.5-Mb tandem

72. Genesis Health System - Detailed Disease Info - 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.genesishealth.com/micromedex/detaileddisease/00042210.aspx

Facility Information DeWitt Comm Hosp Genesis Medical Ctr Illini Hospital Genesis Health Grp VNA 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.

73. NetDoctor.co.uk - Support Groups , Relatedsupport groups, CMT International UK (charcot-marie-tooth disease).......CMT International UK (charcotmarie-tooth disease), http://www.netdoctor.co.uk/directory/support_groups/sg.asp?PID=682

74. Qango : Health: Diseases And Conditions: C: Charcot-Marie-Tooth Disease (CMT) category Options Help. Home Health Diseases and Conditions C charcotmarie-tooth disease (CMT), Suggest a Site. Health, etc. If you http://www.qango.com/dir/Health/Diseases_and_Conditions/C/Charcot-Marie-Tooth_Di

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Charcot-Marie-Tooth Disease (CMT) all of Qango only this category Options Help Home Health ... C > Charcot-Marie-Tooth Disease (CMT) Suggest a Site Health, etc If you would like to suggest a site for this category please click here Home Health Diseases and Conditions ... C > Charcot-Marie-Tooth Disease (CMT) Suggest a Site Home Suggest a Site Search ... Login

75. NIH: Health Information Home Health Information Browse Health Topics Alphabetically. CharcotMarie-ToothDisease. Resources. Up to Top. Look up charcot-marie-tooth disease in http://health.nih.gov/result.asp?disease_id=122

76. Orthotic Management Of Charcot-Marie Tooth - Journal Of Prosthetics And Orthotic ABSTRACT. charcotmarie-tooth disease (CMT) is a neurological condition not commonlyseen by orthotists. Soft tissue surgery in charcot-marie-tooth disease. http://www.oandp.org/jpo/library/1994_04_108.asp

Search oandp.org JPO Exact Phrase All Words Any Words Boolean Search Home JPO 1994 Vol. 6, Num. 4 Link to Figures Show Figures Article Text Figures References Send Link Send HTML Article Orthotic Management of Charcot-Marie Tooth John J. Kamp, CO, OPA ABSTRACT Charcot-Marie-Tooth Disease (CMT) is a neurological condition not commonly seen by orthotists. This article will review recent literature on histology, physical symptoms and classifications. Specific physical manifestations are discussed and illustrated. Four case studies are presented with each having a different clinical picture. Muscle grades and gait patterns as well as a knowledge of this disease's natural history will help practitioners to better provide successful orthotic management. Introduction In 1886, Drs. Charcot and Marie of France and Dr. Tooth of England independently described a neurological condition that was later named for them (1). Although Charcot-Marie Tooth disease has been acknowledged for over a century, it presents a special challenge for the orthotic practitioner. Charcot-Marie-Tooth, or progressive muscular atrophy of the peroneal type, was described in 1968 by Dyck (2,3) as one of a group of hereditary motor sensory neuropathies (HMSN). It is a familial disease transmitted either by an autosomal dominant, X-linked recessive or autosomal recessive gene. This disease affects males more than females by a 5.1:3 ratio (1). The reported incidence in the United States is 1 in 2,000 (4), affecting more than 125,000 people. However, many clinicians state mild cases of Charcot Marie-Tooth may be underreported.

77. CMTnet: Charcot-Marie-Tooth Disorders Information Exchange charcotmarie-tooth Disorder information page compiled by the National Institute of Neurological Disorders and Stroke (NINDS). http://www.ultranet.com/~smith/CMTneto.html

The purpose CMTnet is a repository of information for research and treatment of Charcot-Marie-Tooth (CMT). CMT is a hereditary progressive neuromuscular disorder that primarily effects the feet, legs and hands. CMTnet is intended to provide information for both the medical and non-medical communities. Last updated: 1/12/2000. This information has been gather by an individual with no medical training. No claims are made about this information. The accuracy of the information must be verified by the reader. Welcome to CMTnet A. Researcher information B. Practioner information C. CMTer support information References Genetics research Orthopedics Epidemiology Warning: CMT toxic substance list - Medical Alert OMIN clinical synopsis DNA test information Physical therapy ... Support organizations

78. Charcot-Marie-Tooth Syndrome - CMT Text Version, charcotmarie-tooth Syndrome, Back to the pinboard. but hardly known,and presumably often incorrectly diagnosed and inadequately treated disease http://www.kaikracht.de/cmt/english/

Charcot-Marie-Tooth Syndrome There you are, unsuspecting, and suddenly CMT turns your whole life upside down. I had just reached my dream job, when CMT got me ... By the end of that same year I was severely disabled and retired. This page will give you more information about this not so rare, but hardly known, and presumably often incorrectly diagnosed and inadequately treated disease: Descriptions of the CMT Syndrome taken from the medical literature and support group information Self-Contemplations of people who live with this disease Internet Links leading to special CMT websites with further information, chat groups, and contacts Handicapped Signs in various shapes and for various purposes ready for an easy print-out

79. Charcot-Marie-Tooth Syndrome - CMT: Descriptions My life with CMT My personal report about my life with this disease; CharcotMarie-Toothdisease (CMT) Information of the worldwide support organization CMT http://www.kaikracht.de/cmt/english/text.htm

Descriptions In English language, there are lots of publications on CMT easily available - the Links listed in this website will lead you to rich sources of information about all aspects of this disease. So you will find here only a few selected articles apt to give you a good introduction. My life with CMT My personal report about my life with this disease Charcot-Marie-Tooth Disease (CMT) Information of the worldwide support organization "CMT-International", Ontario/Canada New research validates CMT pain Interview with Dr. Greg Carter about his investigations concerning pain in CMT syndrome Neuropathic pain in CMT disease Official research report of the University of Washingston about pain in CMT disease Overuse weakens CMT muscles Research report about the damage to CMT muscles by exercise or overwork

80. Hereditary Motor Sensory Neuropathies: Charcot-Marie-Tooth 14q31 MLD ARSA; 22q13 PMP22 point mutations Refsum's disease Childhood PHYH linkedConnexin-32 (Females) 2 Xp22.2 3 Xq26, charcot-marie-tooth (CMT) Features http://www.neuro.wustl.edu/neuromuscular/time/hmsn.html

Front Index Search Links ... Patient Information HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN; CMT) Dominant CMT 1A : PMP-22; 17p11 CMT 1B : P protein; 1q22 CMT 1C : LITAF; 16p13 CMT 1D HNPP : PMP-22 deletion; 17p11 HMSN 3 (Dejerine-Sottas) PMP-22; P Thermosensitive Connexin-31 Recessive CMT 4A : GDA P1; 8q21.1 CMT 4B CMT 4B2 CMT 4C CMT 4D (Lom) ... CMT 4F : Periaxin; 19q13 HMSN 3 (Dejerine-Sottas) P PMP-22 Periaxin HMSN-Russe ... Congenital hypomyelinating P Farber's lipogranulomatosis Glycosylation deficient, Ia Krabbe : GALC; 14q31 MLD : ARSA; 22q13 PMP-22 point mutations Refsum's disease Childhood : PHYH; 10pter-p11.2 Adolescent-Adult Infant HMSN + CNS : Heterogeneous X-linked Connexin-32 Axonal Dominant CMT 2A CMT 2B CMT 2C CMT 2D ... CMT 2E : Neurofilament light chain; 8p21 CMT 2F CMT 2G (HMSN-Proximal): 3q13.1 CMT 2-P : P HMSN 5 : Pyramidal signs HMSN 6 HMSN + Optic atrophy HMSN + Deafness HSMN + Ulcero-mutilation ... AR-CMT2A : Lamin A/C; 1q21 AR-CMT2B AR-CMT + Hoarseness : GDA P1; 8q21.1 AR-CMT + Pyramidal signs Acrodystrophy Andermann (Corpus callosum D Ataxia with neuropathy Giant axonal : Gigaxonin; 16q24

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