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Hereditary Sensory Motor Neuropathy:     more detail

Hereditary Motor and Sensory Neuropathy: Webster's Timeline History, 1980 - 2007 by Icon Group International, 2009-04-16 Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution.(Charcot-Marie-Tooth (CMT)): An article from: Revista de Biología Tropical by Alejandro Leal, 2004-09-01 Charcot-Marie-Tooth Disease: A Practical Guide. Also Known as Hereditary Motor and Sensory Neuropathy and Peroneal Muscular Atrophy. by (No Author), 2000 21st Century Complete Medical Guide to Charcot-Marie-Tooth Disease (CMT), Hereditary Motor and Sensory Neuropathy (HMSN), Peroneal Muscular Atrophy, Authoritative ... for Patients and Physicians (CD-ROM) by PM Medical Health News, 2004-03 Lipidoses: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Tish, A.M. Davidson, Altha Edgren, 2006

lists with details

81. Disorder Information - Hereditary Motor And Sensory Neuropathies (HMSN)
    hereditary motor And sensory Neuropathies (HMSN). CharcotMarie-Toothdisease (CMT) Peroneal muscular atrophy.  
    http://www.mdac.ca/english/disorder-info/disorder-info-11.htm
    
    Extractions: print What is HMSN? HMSN, or Charcot-Marie-Tooth syndrome, as it is widely known, is a group of hereditary conditions marked by slowly progressive muscle weakness and atrophy (wasting) in the feet, lower legs, hands and forearms. Many people also experience a mild loss of sensation in the limbs, fingers and toes. The weakness results from the degeneration of peripheral nerves (which connect the spinal cord to the muscles, joints and skin, carrying messages in both directions) rather than from a degenerative process in the muscle tissue itself. Charcot-Marie-Tooth disease (CMT), named for three physicians who first identified it in 1886, is also known as peroneal muscular atrophy because it primarily affects the peroneal muscles on the shin that allow one to pull up the foot. Although initially felt to be one disorder, there are now thought to be numerous types of this disease that differ in clinical severity, genetic patterns of inheritance and changes noted in nerve biopsies. Collectively, this group of disorders is known as hereditary motor and sensory neuropathies (HMSN) and this is becoming the preferred term. However, the term Charcot-Marie-Tooth (CMT) disease is still very commonly used and generally refers to HMSN Type I.

82. Muscular Dystrophy Campaign Hereditary Motor And Sensory Neuropathies (HMSN)
    hereditary motor and sensory Neuropathies (HMSN). (Sometimes known Campaign.What are hereditary motor and sensory neuropathies? The  
    http://www.muscular-dystrophy.org/information/keyfacts/hmsn.html
    
    Extractions: David N Russell (Sometimes known as Charcot-Marie-Tooth Disease or Peroneal muscular atrophy) December 2000 From an original written by the late Prof Anita Harding MD, FRCP and revised by Dr D.Hilton-Jones MD, FRCP, for the Muscular Dystrophy Campaign. What are hereditary motor and sensory neuropathies? The term hereditary and sensory neuropathy (HMSN) is used to describe a group of conditions that give rise to weakness and wasting of the muscles below the knees and often those of the hands. Many affected people also have a loss of feeling in the hands and feet, and this is the ‘sensory’ component. The term neuropathy refers to the fact that it is the peripheral nerves (which connect the spinal cord to the muscles, joints and skin, carrying messages in both directions), which do not function normally. As the name implies, these are inherited disorders. Many different names have been used to describe HMSN in the past, and this is rather confusing. They are often referred to as peroneal muscular atrophy, because the peroneal muscle on the outside of the calves are particularly affected. Another commonly used name is Charcot-Marie-Tooth disease, after the three neurologists who first described the condition in 1886. Other names include Dejerine-Sottas disease and hereditary hypertrophic neuropathy. HMSN is now the preferred term, largely because Charcot-Marie-Tooth disease and peroneal muscular atrophy are more general terms used to describe a wider group of conditions including one form of spinal muscular atrophy.

83. Muscular Dystrophy Campaign Hereditary Motor And Sensory Neuropathies (HMSN)
    hereditary motor and sensory Neuropathies (HMSN). (Sometimes known Campaign.What are hereditary motor and sensory neuropathies? The  
    http://www.muscular-dystrophy.org/information/keyfacts/hmsn.html?&print=YES

84. Hereditary Motor And Sensory Neuropathies
    http//www.ncbi.nlm.nih.gov/disease/Metabolism.html. Obesity Paroxysmal nocturnalhemoglobinuria Phenylketonuria Refsum_disease Tangier_disease  
    http://freesense.free.fr/Diseases/c/341.htm

85. Neurology -- Abstracts: Auer–Grumbach Et Al. 54 (1): 45
    Ulceromutilating neuropathy in an Austrian kinship without linkage to hereditarymotor and sensory neuropathy IIB and hereditary sensory neuropathy I loci.  
    http://www.neurology.org/cgi/content/abstract/54/1/45
    
    Extractions: Articles K. Wagner, PhD V. Timmerman, PhD P. De Jonghe, MD, PhD and H.-P. Hartung, MD michaela.auergrumbach@kfunigraz.ac.at OBJECTIVE: To elucidate genetic heterogeneity in ulcero-mutilating neuropathy. BACKGROUND: Ulcero-mutilating features and sensory loss have been observed in hereditary sensory neuropathy (HSN) and hereditary motor and sensory neuropathy (HMSN). HSN is characterized by

86. Orthoguide.com Hereditary Motor And Sensory NeuropathiesNeuromuscular Home Page
    Search results for hereditary motor and sensory Neuropathies . SearchAltaVista for more on hereditary motor and sensory Neuropathies .  
    http://www.mymedline.com/ortho/Hereditary_Motor_and_Sensory_Neuropathies.php3
    
    Extractions: Orthoguide Matches 1 - 2 of 2 Disorders: Neuromuscular: Neuromuscular Home Page [http://www.neuro.wustl.edu/neuromuscular/] Disorders: Developmental: Genline - on Charcot Marie Tooth Hereditary Neuropathies. [http://www.hslib.washington.edu/genline/cmt.html] Search AltaVista for more on 'Hereditary Motor and Sensory Neuropathies'

87. Inherited Peripheral Neuropathies
    Several subtypes of inherited peripheral neuropathies were delineated and classifiedas hereditary motor and sensory neuropathies (HMSN), hereditary motor  
    http://molgen-www.uia.ac.be/CMTMutations/CMT.cfm
    
    Extractions: C harcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. Soon after the original description by J.M. Charcot, P. Marie and H.H. Tooth in 1886, it became apparent that this syndrome is clinically and genetically heterogeneous. Several subtypes of inherited peripheral neuropathies were delineated and classified as hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN) and hereditary sensory (and autonomic) neuropathies (HSAN). All these types are further subdivided in several subtypes. The classification provides a valuable framework for both diagnostic and research purposes. In this classification, HMSN type I and HMSN type II correspond to CMT type 1 (CMT1, OMIM entries ) and CMT type 2 (CMT2, OMIM entries ) respectively, while Dejerine-Sottas syndrome (DSS,OMIM entry ) is included in HMSN type III. M olecular genetic studies have been very successful in the field of the inherited peripheral neuropathies. Up to date, about 30 loci and 14 genes have been identified. The peripheral myelin protein 22 gene ) on chromosome 17p11.2, the

88. CMT - Scientific Progress
    The inherited peripheral neuropathies were classified by Dyck et al. (1993) as hereditarymotor and sensory neuropathies (HMSN), hereditary motor neuropathies  
    http://www.molgen.ua.ac.be/CMT/ScientificProgress/CMTProgress.cfm
    
    Extractions: T he inherited peripheral neuropathies were classified by Dyck et al. (1993) as hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN), hereditary sensory neuropathies (HSN) and hereditary sensory and autonomic neuropathies (HSAN). G enetic linkage studies were very successful in the study of hereditary neuropathies identifying at least 17 gene loci M utations in the peripheral myelin protein 22 gene ( ) at chromosome 17p11.2 and the myelin protein zero gene MPZ ) gene at chromosome 1q21-q22 are responsible for the autosomal dominant form of Charcot-Marie-Tooth neuropathy type 1 (CMT1), Dejerine-Sottas syndrome (DSS) and congenital hypomyelination (CH). The gene is also involved in hereditary neuropathy with liability to pressure palsies (HNPP). M utations in the connexin 32 gene ( ) on the X chromosome, Xq13, are associated with the X-linked dominant form of CMT1 (CMTX). The identification of mutations in these peripheral myelin protein genes was greatly facilitated since these genes resided in the linked chromosomal regions and therefore became ideal functional and positional candidate genes. T he identification in CMT1 of a 1.5 Mb tandem duplication in chromosome 17p11.2, containing the

89. Neuromuscular Diseases - Internet Handbook Of Neurology
    Washington University, St. Louis; hereditary motor sensory NeuropathiesCharcotMarie-Tooth - Washington University, St. Louis; Congenital  
    http://www.neuropat.dote.hu/nmd.htm
    
    Extractions: University of Debrecen, Hungary Neuromuscular Diseases Chapters: A Collection of High Quality Online Resources for Health Professionals Pathology see Pathology of Nerve and Muscle Overview Ion Channel Diseases - Washington University, St. Louis HIV-1 Associated Myopathies - eMedicine/Neurology EMG - TeleEMG Single Fiber EMG - eMedicine/Neurology Nerve Conduction Studies and Electromyography in the Evaluation of Peripheral Nerve Injuries - Othopaedic Journal, Spring 1999 Nerve Conduction Studies - Journal of Neurological Sciences (Turkish), April-June 2000

90. AAPM&R - EMG Case No. 59, Cont
    Sjogren s syndrome, infectious (including HIV), hereditary sensory Autonomic Neuropathies(HSAN) Type I whether the child has any motor symptoms, such  
    http://www.aapmr.org/education/emgcases/emg5903b.htm
    
    Extractions: What is a Physiatrist? Legislative, Business and Clinical Practice Issues Annual Assembly Medical Education ... EMG EMG CASE No. 59, January 2003, continued History A 13-year-old African American boy was admitted to the hospital for swelling of the left knee. This started 3 months earlier after having jumped from the second story of a building. There was a significant delay in seeking medical attention. He had been in foster care for the last 11 years for reported neglect, physical and sexual abuse on several occasions. The child had a longstanding history of behavioral problems and self-mutilation. His medical history consisted of numerous injuries including electrical burns and scalds on the hands, face, torso, and lower extremities, some of which required skin grafting. Around the age of 3 years, he developed ataxia and an occipital headache. An MRI revealed Arnold-Chiari Type I malformation. He was treated with a suboccipital craniectomy and C1 laminectomy. Prior to continuing, please develop a differential diagnosis and list each possible diagnosis in order of likelihood.

91. BOFFS - Development Of Charcot Joint Following Surgery In Hereditary Sensory Mot
    Development of Charcot joint following surgery in hereditary sensorymotor neuropathy (CharcotMarie-Tooth disease). *M. Nyska MD  
    http://www.bofss.org.uk/html/development_of_charcot_joint_following_surgery_in_h
    
    Extractions: 1999 abstracts Outcome of tarsometatarsal arthrodesis Wound healing following partial closure of the Cincinnati incision for surgery of congenital talipes equinovarus Does addition of footblock for daycase foot surger ... Subtalar distraction fusion after calcaneal fractures using RAMP cage Development of Charcot joint following surgery in hereditary sensory motor neuropathy (Charcot-Marie-Tooth disease) *M. Nyska M.D., **M. Myerson M.D. Charcot-Marie-Tooth (CMT) disease is a spectrum of peripheral neuropathy affecting motor and sensory nerves of the extremity. Most of these patients manifest with progressive distal weakness, pes cavovarus and family history. In advanced cases surgical treatment to correct the foot deformity tendon transfers, soft tissue release, osteotomies, and arthrodesis is needed. Destructive joint process compatible with Charcot changes may rarely appear, mainly in weight bearing joints. The mechanism responsible for activation of the Charcot process is not known but has been associated with neuropathy and fractures in diabetics. We present 3 cases having CMT who developed Charcot destructive process of ankles in two patients and midfoot in another patient. The process developed during recovery period for reconstructive surgery and may have been the trigger for initiating the process. The possible mechanism for development of Charcot process in these patients are discussed.

92. Journal Articles Written About Charcot-Marie-Tooth Disease
    1999 May;66(5)560. New form of autosomalrecessive axonal hereditarysensory motor neuropathy Eckhardt SM, et al; Pediatr Neurol.  
    http://www.geocities.com/dgosling_rn/journal1.html
    
    Extractions: Please note that ALL of the articles listed on these pages are old. The reason I have left them here as a reference is that some of the old research done a number of years ago, has not been repeated or updated. Some people may find these articles have some value in their search for information about "Autosomal recessive Charcot Marie Tooth disease", Malcolm S.; J Neurol Neurosurg Psychiatry. 1999 May;66(5):560. "New form of autosomal-recessive axonal hereditary sensory motor neuropathy" Eckhardt SM, et al; Pediatr Neurol. 1998 p;19(3):234-5 "The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q. " Ring HZ, et al. Hum Genet. 1999 Apr;104(4):326-32.

93. Neurology -- Abstracts: Kessali Et Al. 48 (4): 867
    F. BONO, M. MUGLIA, P. VALENTINO, and A. QUATTRONE Autosomal Recessive HereditaryMotor and sensory neuropathy with Focally Folded Myelin Sheaths (CMT4B) Ann.  
    http://www.neurology.org/cgi/content/abstract/48/4/867
    
    Extractions: Service de Neurologie, CHU Mustapha, Algiers, Algeria. The hereditary sensory and motor neuropathies form a clinically heterogenous group of disorders, the most frequent of which is Charcot- Marie-Tooth disease (CMT). The autosomal dominant forms of CMT are well characterized, but the nosology of autosomal recessive CMT is still controversial. We report two large consanguineous Algerian families with an

94. ECR 97 Presentation 11-037
    Multiple cranial nerve involvement in hereditary motor and sensoryneuropathy type 3 (DejerineSottas disease) MR imaging findings.  
    http://www.ecr.org/T/ECR97/sciprg/abs/9711037p.htm
    
    Extractions: Obuz F. Multiple cranial nerve involvement in hereditary motor and sensory neuropathy type 3 (Dejerine-Sottas disease): MR imaging findings A 19 year-old male who had been suffering from severe sensory-motor complaints for 17 years, was admitted to neurology department. Neurologic examination revealed, foot deformities, limb atrophies, trunk ataxia, left upper limb dysmetria and absence of DTR's. Sensory and motor neuropathy was detected on EMG and also confirmed by sural nerve biopsy. Cranial MRI demonstrated bilaterally, symmetric, diffuse hypertrophy of trigeminal, facial, statoacustic and hypoglossal nerves. After Gd-DTPA injection the hypertrophic cranial nerves showed mild signal enhancement on fat saturated T1W MR images. To our knowledge, in hereditary motor and sensory neuropathies cranial nerve involvement has not been reported in literature previously. The presented case is the first MRI description of hereditary motor and sensory neuropathy which involves cranial nerves.

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