61. Resourses Neuropathies Diagnosis and Treatment of motor Neuropathies hereditary motor sensoryNeuropathies (HMSN) hereditary motor and sensory neuropathy http//www.neuro http://sargon.mmu.ac.uk/RESORC14.HTM

Health and Disability-Related Web Sites Page 14 of 26 updated 26/08/97 NEONATAL / NEWBORN................ BPD - bronchopulmonary dysplasia Clinical Resources for neonatal-perinatal medicine Computers in Neonatology CSMU:NICU, cholestyramine (Questran) for diarrhea ... PKU Homepage, dozens of links, diet, support groups NEUROFIBROMATOSIS............................ Dialogue at ParentsPlace on Neurofibromatosis Fibromatosis Menu Neurofibromatosis Neurofibromatosis and Hearing Loss, from Boys Town ... What is Neurofibromatosis 2 (NF2) NEUROLOGY.................... Eric H. Chudler's homepage, hundreds of neuro links Hardin Meta Directory, dozens of neurology/seuroscience links MGH Neurology - Neurology Web-Forum Montreal Neuroscience institute ... WWW Virtual Library, neuroscience, hundreds of links NEUROMUSCULAR DISABILITY................ Continuum, neuromuscular diseases Gene "Knockouts" Reveal Critical Links in Synapse Formation MDA, individual Muscular Dystrophy disorders National Institute of Neurological disorders and stroke ... Tremor NEUROPATHY........................See also Charcot-Marie-Tooth Disorder Acute Immune Polyneuropathies Anti-Sulfatide Antibodies Chronic Inflammatory Demylenatory Polyneuropathy Diabetic Neuropathies ... http://www.neuro.wustl.edu/neuromuscular/time/hsn.htm

62. Baylor Neurology Case Of The Month causes (HIV, Lyme, leprosy), HNPP (hereditary neuropathy with predisposition to typicallypresents with asymmetrical motor and sensory involvement and http://www.bcm.tmc.edu/neurol/challeng/pat26/summary.html

Patient #26 Summary and Discussion Luciana DeSaibro Neurology Resident Diagnosis: Multifocal Motor Neuropathy with conduction block Patient #26 presented with slowly progressive asymmetrical limb weakness, atrophy, and fasciculations without evidence of sensory or upper motor neuron involvement. The pattern of weakness was primarily distal, and cranial nerves were not affected. These findings indicate a lower motor neuron syndrome or asymmetrical motor neuropathy. The differential diagnosis includes the various causes of motor neuron disease, chronic inflammatory demyelinating neuropathy, motor neuropathies, and mononeuritis multiplex. CIDP usually causes a symmetrical, distal, sensorimotor neuropathy primarily affecting the legs (though arms may be prominently affected, and proximal involvement is not unusual). Sensory symptoms are extremely common, and sensory signs are almost universal. However, rare cases of motor involvement without significant sensory signs have been described. In most cases, however, the motor involvement is symmetrical at onset and throughout the course of the disease. The clinical course is progressive with episodes of relapse. Reflexes are universally decreased and often absent. These features argue against CIDP as the cause of neuropathy in this case. The EMG/NCV findings also argue against CIDP, as motor conduction velocities are markedly slowed even in areas without conduction blocks in CIDP findings not present in this case. Mononeuritis multiplex (multiple mononeuropathies) may be caused by diabetes mellitus, vasculitis, sarcoidosis, infectious causes (HIV, Lyme, leprosy), HNPP (hereditary neuropathy with predisposition to pressure palsies), multiple nerve tumors (neurofibromatosis), and perineuromas. Clinically, mononeuritis multiplex typically presents with asymmetrical motor and sensory involvement and variable involvement of reflexes. It would be highly unusual for mononeuritis multiplex to present as a pure motor syndrome, as in this case. The long course of the disease without other accompanying features would also be highly unusual for any of the causes of multiple mononeuropathies.

63. HIV Report May 2001 - Sensory Neuropathy In HIV/AIDS lower CD4 count, and concurrent causes of neuropathy including diabetes mellitus,prior cancer chemotherapy, and hereditary sensory motor polyneuropathies. http://www.hopkins-aids.edu/publications/report/may01_2.html

2001 Table of Contents In This Issue Report from the 8 th CROI: Sensory Neuropathy in HIV/AIDS By Justin C. McArthur, M.B., B.S., M.P.H. Clinical Characteristics 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.

64. A Case Of Motor Sensory Neuropathy COMMENT Although the clinical and EMG evidence for hereditary sensory and motorneuropathy is overwhelming , the degree of neurogenic atrophy present in this http://neuro-www.mgh.harvard.edu/forum/MovementDisordersF/8.23.984.52PMAcaseofMo

A case of Motor Sensory Neuropathy This article submitted by Sumit Agarwal on 8/23/98. Email Address: mlgroup@lw1.vsnl.net.in Subject: An interesting case of hereditary motor sensory neuropathy Date: Sunday, August 23,1998 10:32 PM Dear Sir, My sister, Chhavi Agarwal, born 18th July,1979 is suffering from a neurological disorder which even the best neurologists in India have not been able to diaganose exactly. They have called it hereditary motor sensory neuropathy although they have not been able to match all the manifestations with any other previously known case. I would request you to spare a little of your precious time to study her case and suggest any remedies or further investigations. I shall feel highly indebted for your kind gesture. The following are manifestations of her problem as on date:- 1) Walks with more effort than a normal person, not able to sustain her body weight. 2) Cannot run 3) Will fall if pushed slightly or encounters obstruction at feet while walking. 4) Needs support and lot of effort to get up after sitting on floor or low chair or for climbing stairs.

65. 32 Mental functions, cranial nerves and motor system were normal. Autosomal recessivesensory neuropathy. HSAN type III. . hereditary anhidrotic sensory neuropathy. http://www.slmaonline.org/cmj/CMJ4501/32.htm

Case report A case of hereditary sensory and autonomic neuropathy (HSAN) type II AT Alibhoy , Bimsara Senanayake , MAH Fernando , UK Ranawaka and SC Wijesekera Senior Registrars in Neurology, Neurologist, Institute of Neurology, National Hospital of Sri Lanka. (Revised version accepted February 2 2000). Ceylon Medical Journal, (Key words: Electron microscopy, nerve conduction studies, differential diagnosis, autonomic dysfunction studies) Summary We describe a case of hereditary sensory and auto­nomic neuropathy (HSAN) type II in a child with a pen­etrating foot ulcer, acral sensory impairment, and anhidrosis. This is the first documentation of HSAN in Sri Lanka. Introduction Hereditary sensory neuropathies were recognised to be associated with autonomic manifestations, and they were subsequently termed HSAN (1). Classification of HSAN (Table) is based on the pattern of inheritance, natural history and histopathological features on nerve biopsy (1,2). HSAN type II is an autosomal recessive condition presenting in early life with a pansensory neuropathy. Static and slowly progressive subtypes have been described (3). As most of the reported cases refer to young patients, it can be inferred that the life span of these patients is reduced. Case report An 8-year old boy with a painless non-healing ulcer of the left foot of6 months' duration. He was the second of two children from a non-consanguineous marriage. His birth history and developmental milestones were normal. At 5 years of age, his parents noticed recurrent ulcers and cal­losities in his feet, from which he did not complain. He was also noted not to sweat as much as his sibling. There was no history of self- mutilation or recurrent pyrexia. His parents and elder brother were healthy.

66. Charcot-Marie-Tooth Disease (hereditary) neuropathic (peroneal) muscular atrophy; hereditary peroneal nerve dysfunction;neuropathy peroneal (hereditary); hereditary motor and sensory neuropathy. 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

67. Volume 103 January - December 1980 The clinical features of hereditary motor and sensory neuropathy types I and II.AE . Harding and PK . Thomas. Pages 259 280. Part of the OUP Brain WWW service. http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_103/Issue_02/1030259.sg

Volume 103: January - December 1980 Issue 2: June 1980 Abstract The clinical features of hereditary motor and sensory neuropathy types I and II AE Harding and PK Thomas Pages: Part of the OUP Brain WWW service General Information Click here to register with OUP. This page is maintained by OUP admin Last updated 14 May 97 Part of the OUP Journals World Wide Web service Oxford University Press, 1997

68. Volume 109 January - December 1986 hereditary motor and sensory neuropathy type II. Clinicopathologicalstudy of a family. J . Berciano , O . Combarros , J . Figols http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_109/Issue_05/1090897.sg

Volume 109: January - December 1986 Issue 5: October 1986 Abstract Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family J Berciano O Combarros J Figols J Calleja A Cabello I Silos and F Coria Pages: Part of the OUP Brain WWW service General Information Click here to register with OUP. This page is maintained by OUP admin Last updated 14 May 97 Part of the OUP Journals World Wide Web service Oxford University Press, 1997

69. Muscular Dystrophy Campaign Hereditary Motor And Sensory Neuropathies (HMSN) The term hereditary motor and sensory neuropathy (HMSN) is used to describe a groupof conditions which give rise to weakness and wasting of the muscles below http://www.muscular-dystrophy.org/information/KeyFacts/hmsn.html

@import "../../css/cssstyle.css"; Receive copies of our quarterly magazine Get your message to over 30,000 readers by advertising in Target MD magazine. Call for details: David N Russell Hereditary Motor and Sensory Neuropathies (HMSN) (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 ÔsensoryÕ 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.

70. Arch Pediatr Adolesc Med -- Page Not Found neuropathy in childhood. Phenomenal progress in molecular genetics has led to thediscovery of the genes for the common forms of hereditary motor and sensory http://archpedi.ama-assn.org/issues/v154n10/ffull/pbk1000-3.html

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71. Hereditary Motor And Sensory Neuropathy hereditary motor and sensory neuropathy. A resource with information on over4000 medical topics including hereditary motor and sensory neuropathy. http://www.bloodandmarrowtransplant.com/medical-terms/01934.htm

Hereditary motor and sensory neuropathy A Medical Encyclopedia Article provided by Maryland General Hospital A resource with information on over 4000 medical topics including: Hereditary motor and sensory neuropathy Previous Next

72. Familial Infantile Myasthenia : Confusio... Translate this page Article, hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family clinical, electrophysiological, pathological and genetic studies. http://www.cidg.com/~marienf/k/i/n/m019409.htm

# Article : A0033949 Cote/Call Number Auteur/Author Deymeer, Feza. Serdaroglu, P. Özdemir, C. Titre/Title Neuromuscular disorders Article Familial infantile myasthenia : confusion in terminology. Identification no. 2 9 1999 Pages: 129-30 Descripteurs/Descriptors Terminologie Demande par courrier Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

73. CMGS-PMP-22 - One Gene, Two Syndromes/19.11.98 or diminished. High arched feet (pes cavus) are often present. Alsodescribed as hereditary and motor sensory neuropathy (HMSN). http://www.ich.ucl.ac.uk/cmgs/pmp22.htm

PMP-22 - "One gene-two syndromes" Keywords: CMT1A, HNPP, duplication, deletion, gene dosage Charcot-Marie-Tooth Disease (CMT) First described in 1886 by Charcot and Marie in Paris, France and Tooth in Cambridge, England. Most common inherited disorder of the peripheral nerves affecting 1 in 2500 individuals in their 20s and 30s. Characterised by distal muscle atrophy and weakness, first involving the legs and particularly the peritoneal muscles. Sensory loss may be present but is always less pronounced than muscle weakness, and tendon reflexes are absent or diminished. High arched feet (pes cavus) are often present. Also described as Hereditary and Motor Sensory Neuropathy (HMSN). Studies of several cohorts of CMT patients elucidated the association between clinical phenotypes, modes of inheritance electrophysiological findings and pathological features. Extended pedigrees showed that these phenotypes bred true in families. Several subtypes of inherited peripheral neuropathies were delineated and classified as: 1. Hereditary motor and sensory neuropathies

74. PROFESSIONAL REFERENCE Allergy Immunlogy Cardiology Dermatology with sensory loss, Vasculitis hereditary neuropathy with predisposition weakness withoutsensory loss, Upper Generalized multifocal motor neuropathy (MMP), Bulbar http://merck.praxis.md/bpm/bpmtables.asp?page=BPM01NE12&table=BPM01NE12T07

75. Dental Guidelines in 1951. According to the current classification system, hereditary peripheral neuropathiesare divided into hereditary motor and sensory neuropathy (HMSN) and http://www02.so-net.ne.jp/~tomorrow/en2/guidel.htm

Dental Guidelines Japanese Ministry of Health and Welfare Study on a Good Rearing System for High Risk Children Study on Care of Children with Motor Disorders Masakazu Ikeda, DDS, PhD (Department of Dentistry, Kanagawa ChildrenÕs Medical Center) Kenji Nihei, MD (Department of Neurology, National Center for Child Health and Development) INTRODUCTION Sensory neuropathy with anhidrosis is a hereditary disease characterized mainly by insensitivity to pain, anhidrosis (an abnormal deficiency of sweat), and mental retardation. It is said that this disorder was first reported by Nishida et al. in 1951. According to the current classification system, hereditary peripheral neuropathies are divided into hereditary motor and sensory neuropathy (HMSN) and hereditary sensory and autonomic neuropathy (HSAN). As such, this disorder comes under HSAN type 4. Thus far, approximately 100 cases have been reported in Japan. Recently, Indo et al.(1996) reported that defects in TRKA(a receptor tyrosine kinase for nerve growth factor -NGF) causes this disease. The insensitivity to pain is attributable to a lack of small myelinated and unmyelinated nerve fibers which conduct pain impulses. The sweat deficiency results from a lack of peripheral sympathetic end-fibers which innervate blood vessels surrounding the sweat glands.

76. Disease hereditary Peripheral Neuropathies. hereditary motor and sensory neuropathy (CharcotMarie-Toothdisease) This is the most common type of inherited neuropathy. http://www.bgsm.edu/neurology/department/diagneuro/Disease.html

Neuromuscular Diseases Muscle Diseases (Myopathy) Dermatomyositis (DM): DM is an auto immune muscle disease which occurs in children and adults. The cardinal sign of this disorder is the presence of a rash commonly over the upper chest and back or shoulders. Occasionally, a purplish (heliotrope) discoloration is present over the eyelids. Along with the rash, muscle weakness in the hips and shoulders is noted. The disease develops over weeks to months. The cause is unknown but involves inflammation of the blood vessels in the skin and muscle. Diagnosis is clinical with supportive evidence from blood levels of muscle enzymes ( CK or creatine kinase ), and EMG findings. Many people undergo muscle biopsy for a definitive diagnosis. The disease responds well to oral steroids but is sometimes resistant and may require treatment with azathioprine or IVIG Polymyositis (PM) PM is similar to DM but doesn't have the rash. Symptoms develop over weeks to months in most cases. The cause is usually unknown but occasionally, PM and DM are associated with cancer or rheumatoid conditions. Treatment is similar to that of DM. Drug-induced myositis: Several medications may lead to muscle damage. These include certain cholesterol lowering agents, colchicine, and ipecac.

77. CMTNEWS hereditary motor and sensory neuropathy with Diaphragm and Vocal CordParesis. Research with Linda. Thomas D. Bird, MD, Chief, Neurology http://www.cmtnews.com/Vocal Cord Paralysis/JA - HMSN with Diaphragm and Vocal C

HOME About this site Advisors to this site Aging ... HOME Hereditary Motor and Sensory Neuropathy with Diaphragm and Vocal Cord Paresis Research with Linda Thomas D. Bird, M.D., Chief, Neurology (VA Medical Center); Professor, Neurology and Medical Genetics (University of Washington Medical School) and one of our advisors, sent a journal article on to us titled Hereditary Motor and Sensory Neuropathy with Diaphragm and Vocal Cord Paresis by Peter James Dyck, MD; William H. Litchy, MD; Sharon Mennerath, BS, Thomas D. Bird, MD; Phillip E. Chance, MD; Daniel J. Schaid, PhD and Arnold El Aronson, PhD. Three of the authors are familiar to us, Dr. Dyck and Dr. Bird, both of whom are on our advisory committee, and Dr. Chance. I read the paper with much interest because I have a paralyzed vocal cord but in trying to rewrite it for you in layman's terms I fell short, so I asked Dr. Bird if he would give us a short synopsis of it. Hereditary Motor and Sensory Neuropathy with Diaphragm and Vocal Cord Paresis by Peter James Dyck, MD et al published Annals of Neurology Vol 35 No 5 May 1994.

78. CMTNEWS Respiratory Muscle Dysfunction in hereditary motor sensory neuropathy,Type 1. Archives of Internal Medicine 1988/Vol.14817391740. http://www.cmtnews.com/breathing/breathingpage11.html

HOME About this site Advisors to this site Aging ... HOME Resources and Journal Articles on Breathing and CMT Breathing Resources The International Ventilator Users Network (IVUN) has a regular newsletter linking ventilator users with each other and with health care professionals interested in home mechanical ventilation. To join send $8 US or $10 Cdn.or overseas to: Gazette International Networking Institute, 51 Oakland Ave. #206, St. Louis, MO 63110-1406, USA There is an interesting publication out called Ventilators: Alternatives for Long-term and Home Use: A manual for people who are considering the long-term use of ventilator at home. A copy costs $15 plus add $5 in the US and Canada and $10 elsewhere for shipping and handling. Cheques in US funds to: Dr. E.A. Oppenheimer c/o Pulmonary Medicine 4950 Sunset Blvd. Los Angeles, CA 90027-5822 USA Journal Articles on Breathing and CMT the Editor 1995/p.1215

79. Hereditary Neuropathy With Liability To Pressure Palsies features of HNPP are described and contrasted with hereditary neuralgic amyotrophyby HNPP is characterized by recurrent sensory and motor neuropathy in a http://www.geneclinics.org/profiles/hnpp/details.html

Hereditary Neuropathy with Liability to Pressure Palsies [HNPP, Tomaculous Neuropathy, Hereditary Pressure Sensitive Neuropathy] Author: Thomas D Bird, MD University of Washington Initial Posting: 28 September 1998 Last Revision 27 June 2001 Summary Disease characteristics. HNPP is a disorder of peripheral nerves in which individuals are predisposed to repeated pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop. Recovery from acute neuropathy is often complete; when recovery is not complete, the resulting disability is usually mild. Some affected persons also have signs of a mild to moderate peripheral neuropathy. Diagnosis/testing. The diagnosis of HNPP is established in an adult with recurrent focal compression neuropathies who has a family history consistent with autosomal dominant inheritance. Molecular genetic testing for a contiguous gene deletion of chromosome 17p11.2 that includes the gene detects about 80% of patients. The remaining 20% of patients have a variety of point mutations in that may lead to frameshifts or other functional changes in the protein. Clinical testing is available for both deletions and frameshift mutations.

80. Charcot-Marie-Tooth Hereditary Neuropathy Overview The CMT phenotype also called hereditary motor/sensory neuropathy (HMSN) consistsof motor and sensory neuropathy in the absence of other systemic findings http://www.geneclinics.org/profiles/cmt/details.html

Charcot-Marie-Tooth Hereditary Neuropathy Overview [Peroneal Muscular Atrophy] Author: Thomas D Bird, MD About the Author Initial Posting: 28 September 1998 Last Update 28 March 2003 Summary Disease characteristics. Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy. The typical patient has distal muscle weakness and atrophy often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched feet. The CMT hereditary neuropathies are categorized by mode of inheritance and causative gene or chromosomal locus. Diagnosis/testing. The genetic neuropathies need to be distinguished from the many causes of acquired (non-genetic) neuropathies. Clinical diagnosis is based on family history and characteristic findings on physical examination, EMG/NCV testing, and occasionally on sural nerve biopsy. Molecular genetic testing is available in clinical laboratories for diagnosis of CMT1A , chromosomal locus 17p11.2), CMT1B (MPZ , chromosomal locus 1q22), CMT2E (NEFL , chromosomal locus 8p21), and CMTX , chromosomal locus Xq13.1), CMT1D

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