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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

61. Archives Of Iranian Medicine, Volume 6, Number 4, 2003: 296 – 298.
    Individuals with hereditary sensorymotor neuropathy type V (with spastic paraplegia) usually present in the latter half of the first or second decade with  
    http://www.ams.ac.ir/AIM/0364/015.htm
    
    Extractions: S PASTIC   P ARAPLEGIA   WITH  P ERIPHERAL P OLYNEUROPATHY: A R EPORT  OF  T HREE  C ASES Saied Khosrawi MD Mostafa  Shirzadi MD, Farshad Ghadiri MD Correspondence: S. Khosrawi MD, Department of Neurology, Azzahra Hospital,  Sofeh St., Isfahan, Iran. P.O. Box: 925, Fax: +98-311-6684510, E-mail: khosrawi@med.mui.ac.ir Spastic paraplegia is manifested by progressive spasticity and weakness of the legs and is one of the presenting signs of upper motor neuron disorders. Several diseases present solely with spastic gait disorders, but spastic paraplegia with severe polyneuropathy is an uncommon condition. We report three cases of spastic paraplegia from childhood with severe distal atrophy due to profound polyneuropathy; two of them had a hereditary and one sporadic (nonhereditary) background. In the present report, positive clinical and paraclinical findings with the possible differential diagnosis have been discussed. Archives of Iranian Medicine, Volume 6, Number 4, Keywords hereditary complicated neurophysiology polyneuropathy spastic paraplegia  sporadic                                 

62. AAPM&R - EMG Case No. 73, Cont
    Axon loss motor sensory polyneuropathy. hereditary motor sensory neuropathy type I, III, VI, Metachromic leukodystrophy, Krabbe’s leukodystrophy,  
    http://www.aapmr.org/education/emgcases/emg7305c.htm
    
    Extractions: What is a Physiatrist? Legislative, Business and Clinical Practice Issues Annual Assembly Medical Education ... EMG Physical Examination She is an overweight young woman who is walking with a normal gait pattern and appeared to get up from her chair and sit without difficulty. She has a well-healed incision over her lumbar region. Sensations to light touch and pinprick show no appreciable decrement in the hands and feet compared to the rest of her extremities. Additional exam of vibratory and positional sensation was normal. There is no evidence of muscle atrophy in her upper extremities or lower extremities. Gross cranial nerve exam shows no asymmetry. Commentary III The current findings are minimally helpful with the differential diagnosis. Despite the patient stating she has symptoms of numbness in her hands and feet, the direct exam did not show any abnormalities. This can be confusing but the patient’s symptoms cannot be wholly dismissed. It would be of interest to have patient outline her numbness/tingling to get an idea of the distribution.

63. Indian Pediatrics - Editorial
    Four Siblings with Type II hereditary sensory and Autonomic neuropathy sensory nerve conduction velocity, No AP, No AP, No AP, No AP. motor nerve  
    http://www.indianpediatrics.net/sep2002/sep-870-874.htm
    
    Extractions: Somprakas Basu Bengal Medical College and Hospitals, Sushrutnagar, Darjeeling, West Bengal, India. Correspondence to: Dr. Sriparna Basu, 113, Ultadanga Main Road, Kolkata-700 067, West Bengal, India. E-mail: drsriparnabasu@rediffmail.com Manuscript received: June 20, 2001; Initial review completed: August 3, 2001; Revision accepted: April 22, 2002. expression in the parents. The rarity of the disease is highlighted and the intragroup variations are discussed. The Hereditary Sensory and Autonomic Neuropathies (HSAN) are a group of rare disorders characterized by prominent sensory and autonomic neuropathy without motor involvement(1). They reflect failure of development or degeneration of sub-populations of peripheral sensory and autonomic neurons. Classification is done into five main groups based on inheritance, clinical features and the population of sensory neurons affected. Impaired pain appreciation results in mutilating acropathy with skin ulceration and fissuring, long bone fractures, Charcot’s joints and digit amputation. The precise symptoms and signs and the nerve conduction abnormalities of each type are determined by the subpopulation of sensory neurons predominantly affected(2). We report a family in which all four siblings were affected with HSAN Type II without any

64. Cyberounds (R) Conferences Medical Genetics Inherited
    Onset of symptoms for distal hereditary motor neuropathy (SMA IV) is usually in hereditary sensory and autonomic neuropathy type I or hereditary sensory  
    http://www.cyberounds.com/conf/medical_genetics/1997-06-05/

65. Journal Articles Written About Charcot-Marie-Tooth Disease
    Central motor conduction in hereditary motor and sensory neuropathy and hereditary spastic paraplegia. Cruz Martinez A, et al.  
    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.

66. Peripheral Neuropathy, 4th Edition
    The hereditary motor and sensory Neuropathies (HMSN) 73. Related to MPZ (P0) Mutations – Michael E. Shy 74. Disorders Related to EGR 2 Mutations Laura E.  
    http://www.intl.elsevierhealth.com/catalogue/title.cfm?ISBN=0721694918

67. HIV Report May 2001 - Sensory Neuropathy In HIV/AIDS
    sensory neuropathy occurring in the context of HIV/AIDS has become a frequent prior cancer chemotherapy, and hereditary sensory motor polyneuropathies.  
    http://www.hopkins-aids.edu/publications/report/may01_2.html
    
    Extractions: Pathophysiology Risk Related to Specific ART Agents Treatment of HIV-Associated and Dideoxynucleoside-Associated Toxic Sensory Neuropathy "There is no more lively sensation than that of pain; its impressions are certain and dependable..." Marquis de Sade, 1791 Sensory neuropathy occurring in the context of HIV/AIDS has become a frequent complication, particularly in patients treated with dideoxynucleoside antiretrovirals. Sensory neuropathy not only affects the quality of life, but is frequently under-treated, even by expert HIV providers. Increasingly, the occurrence of HIV associated sensory neuropathy limits the choice of HAART regimens by excluding the use of dideoxynucleosides. In addition, the development of neuropathic symptoms, or even the fear of sensory neuropathy, may reduce adherence with antiretrovirals. Finally, peripheral neuropathy may actually be an early marker of mitochondrial dysfunction, which is now believed to contribute to the development of lipodystrophy, lactic acidosis, and other toxicities. Clinical Characteristics Neurology . 1998;52:607]. Other risk factors include age, the presence of wasting syndrome, lower CD4 count, and concurrent causes of neuropathy including diabetes mellitus, prior cancer chemotherapy, and hereditary sensory motor polyneuropathies.

68. Hereditary Motor Neuropathies (from Nervous System Disease) --  Encyclopædia B
    Diagnosis of hereditary motor neuropathy is confirmed by system that conducts stimuli from sensory receptors to the brain and spinal cord and that  
    http://www.britannica.com/eb/article-225696
    
    Extractions: Home Browse Newsletters Store ... Subscribe Already a member? Log in Content Related to this Topic This Article's Table of Contents Expand all Collapse all Introduction The neurological examination Medical history Altered consciousness Headache Cognitive changes ... Localization of neurological disease Lower-level sites Muscle Motor end plate Peripheral nerves Spinal nerve roots ... Spinal cord Higher-level sites Brainstem Cerebellum Basal ganglia and thalamus Cerebral hemispheres ... Autoimmune disorders Diseases and disorders The skull and spine Neural tube defects Cephalic disorders Fractures Tumours ... Vertebral disorders The meninges and cerebrospinal fluid Raised or decreased intracranial pressure Blood clots Meningitis Tumours The peripheral system Neuropathies Neuronal neuropathies Poliomyelitis changeTocNode('toc75727','img75727'); Hereditary motor neuropathies Motor neuron disease Nerve injuries Demyelinating neuropathies ... Disease of the neuromuscular junction Diseases of muscle Genetic dystrophies Other inherited muscle diseases Acquired diseases of muscle The spinal cord Spinocerebellar degenerations Inflammation Trauma Tumours ... Myoclonus Cranial nerves Olfactory nerve Optic nerve Oculomotor, trochlear, and abducens nerves

69. NEUROSCIENCEnetBASE: Neuro Sciences Online
    hereditary motor and sensory Neuropathies (HMSN); hereditary sensory neuropathy; hereditary neuropathy to Pressure Palsy (HNPP); Giant Axonal neuropathy  
    http://www.neurosciencenetbase.com/ejournals/books/book_summary/toc.asp?id=1020

70. A Family With Hereditary Motor And Sensory Neuropathy And
    hereditary motor and sensory neuropathy (HSMN) and/or sensorineural deafness was Keywords hereditary motor sensory neuropathy, sensorineural deafness  
    http://med.ege.edu.tr/norolbil/2004/2004_3_36.htm

71. A Family With Hereditary Motor And Sensory Neuropathy And
    KEY WORDS hereditary motor sensory neuropathy, sensorineural deafness hereditary motor and sensory neuropathies. Am J Med genet 1991;1815. MedLine  
    http://med.ege.edu.tr/norolbil/2004/NBD29604.htm

72. Elsevier.com - Peripheral Neuropathy
    The hereditary motor and sensory Neuropathies (HMSN) 73. Related to MPZ (P0) Mutations ? Michael E. Shy 74. Disorders Related to EGR 2 Mutations Laura E.  
    http://www.elsevier.com/wps/product/cws_home/692801
    
    Extractions: Home Site map Regional Sites Advanced Product Search ... Peripheral Neuropathy Book information Product description Author information and services Ordering information Bibliographic and ordering information Book related information Submit your book proposal Other books in same subject area About Elsevier Select your view PERIPHERAL NEUROPATHY Edited by internationally acclaimed experts in the field, this authoritative 2-volume Gold Standard comprehensively covers the neurobiology and diseases of the peripheral nervous system. It encompasses neurobiology, clinical neurophysiology, molecular genetics, and clinical diagnosis and management. The 4th Edition has been rewritten and updated to provide a fresh account of all subjects, with an emphasis on new information about cell biology, genetics, proteomics, clinical manifestations, and new treatments. And, a user-friendly organization allows readers to quickly find specific information, or access more in-depth coverage when needed.

73. Sao Paulo Medical Journal -
    hereditary motorsensory neuropathy type III is also called Facial nerve dysfunction in hereditary motor and sensory neuropathy type I and III.  
    http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802003000500006

74. BioMed Central | Abstract | A Molecular Basis For Hereditary Motor And Sensory N
    Report A Molecular Basis for hereditary motor and sensory neuropathy Disorders Michael E Shy MD, Janne Balsamo PhD, Jack Lilien PhD and John Kamholz MD PhD  
    http://www.biomedcentral.com/1528-4042/1/77/abstract
    
    Extractions: Charcot-Marie-Tooth disease (CMT), or inherited peripheral neuropathies, is one of the most frequent genetically inherited neurologic disorders, with a prevalence of approximately one in 2500 people. CMT is usually inherited in an autosomal dominant fashion, although X-linked and recessive forms of CMT also exist. Over the past several years, considerable progress has been made toward understanding the genetic causes of many of the most frequent forms of CMT, particularly those caused by mutations in Schwann cell genes inducing the demyelinating forms of CMT, also known as CMT1. Because the genetic cause of these disorders is known, it is now possible to study how mutations in genes encoding myelin proteins cause neuro-pathy. Identifying these mechanisms will be important both for understanding demyelination and for developing future treatments for CMT.

75. Disease, Medication, Symptom Etc Database Index : H Diseases Database
    hereditary sensorymotor neuropathy type 4 see Refsum s disease hereditary sensory-motor neuropathy type 6 hereditary sensory-motor neuropathy type 7  
    http://www.diseasesdatabase.com/disease_index_h.asp

76. Hereditary Motor And Sensory Neuropathy Mimicking Hansen's Disease,Somani VK, Su
    IJDVL is an peerreviewed biomedical periodical of Indian Association of Dermatologists, Venereologists and Leprologists.  
    http://www.ijdvl.com/article.asp?issn=0378-6323;year=1996;volume=62;issue=3;spag

77. Diaphragmatic Dysfunction In Siblings With Hereditary Motor And Sensory Neuropat
    We studied a patient with hereditary motor and sensory neuropathy type 1 (Charcot Marie-Tooth disease) and type 2 diabetes mellitus who had severe  
    http://www.chestjournal.org/cgi/content/abstract/91/4/567
    
    Extractions: This Article Order Full text via Infotrieve Submit a response Alert me when this article is cited Alert me when eLetters are posted ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Chan, C. K. Articles by Ferranti, R. CK Chan, V Mohsenin, J Loke, J Virgulto, ML Sipski and R Ferranti Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease) is characterized by chronic degeneration of peripheral nerves and roots, resulting in distal muscle atrophy, beginning in the feet and legs and later involving the hands. The association of this disease with diaphragmatic dysfunction has not been reported. We studied a patient with

78. Accessing Article
    Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy hereditary sensory neuropathy is caused by a mutation in the delta subunit  
    http://www.nature.com/ng/journal/v36/n3/full/ng1313.html
    
    Extractions: Most users gain access to full text articles through a site license. This is available to institutional customers only. For further information visit the Librarian Gateway. Full-text articles are also available through a number of other options: I want to purchase this article Select this option to view this article immediately and access it for seven days. I am already a personal subscriber to Nature Genetics Personal subscribers to Nature Genetics can view this article. To do this you need to associate your subscription with your registration via the My Account page. If you already have an active online subscription, log in via the login box in the top right-hand corner of this page.

79. MedlinePlus Medical Encyclopedia: Peripheral Neuropathy
    Some people have a hereditary predisposition for neuropathy. The three main types of nerves are sensory, motor, and autonomic. neuropathy can affect any  
    http://www.nlm.nih.gov/medlineplus/ency/article/000593.htm
    
    Extractions: @import url(/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Nervous system Central nervous system Alternative names Return to top Peripheral neuritis; Neuropathy - peripheral; Neuritis - peripheral Definition Return to top Peripheral neuropathy is a failure of the nerves that carry information to and from the brain and spinal cord. This produces pain, loss of sensation, and inability to control muscles. The term peripheral neuropathy can be broken down as follows: "neuro" = nerves, "pathy" = abnormal, and "peripheral" = nerves beyond the brain and spinal cord. Causes, incidence, and risk factors Return to top The peripheral nerves relay information from your central nervous system (brain and spinal cord) to muscles and other organs and from your skin, joints, and other organs back to your brain. Peripheral neuropathy occurs when these nerves fail to function properly, resulting in pain, loss of sensation, or inability to control muscles. In some cases, the failure of nerves that control blood vessels, intestines, and other organs results in abnormal blood pressure, digestion problems, and loss of other basic body processes. Peripheral neuropathy may involve damage to a single nerve or nerve group (

80. Dr. Koop - Charcot-Marie-Tooth Disease (hereditary)
    (peroneal) muscular atrophy; hereditary peroneal nerve dysfunction; neuropathy peroneal (hereditary); hereditary motor and sensory neuropathy  
    http://www.drkoop.com/ency/93/000727.html
    
    Extractions: Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Injury Disease Nutrition Poison ... Prevention Definition: Charcot-Marie-Tooth disease defines a group of inherited, slowly progressive disorders that result from progressive damage to nerves. Symptoms include numbness and wasting of muscle tissue, first in the feet and legs, then in the hands and arms. Causes, incidence, and risk factors: Charcot-Marie-Tooth diseases involve damage to nerves (neuropathy), usually from loss of the electrical insulation ( myelin ) around nerve fibers. All nerves are affected, but motor nerves (the nerves that stimulate movement) are most severely affected. 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

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