Home  - Health_Conditions - Hereditary Sensory Motor Neuropathy

Books Baby Camera Phones Computers Games DVD Electronics Kitchen Magazines Music Garden Software Tools Toys Video Apparel & Accessories Jewelry & Watches Musical Instruments Health & Personal Care Beauty Sports & Outdoors Office Products

e99.com Bookstore

Images

Newsgroups

41-60 of 94    Back | 1  | 2  | 3  | 4  | 5  | Next 20

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

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

41. HEREDITARY AUDITORY, VESTIBULAR, MOTOR AND SENSORY NEUROPATHY; A CHROMOSOME 8 DI
    28 members of a gypsy family, with two siblings age 31 and 30 and one, age 20 years,suffering from hereditary motor and sensory neuropathy associated with  
    http://www.ausp.memphis.edu/ierasg/abstract99/butinar.html
    
    Extractions: HEREDITARY AUDITORY, VESTIBULAR, MOTOR AND SENSORY NEUROPATHY: A CHROMOSOME 8 DISORDER D. Butinar , B.J.B. Keats , Y.S. Sininger , and A. Starr Institute of Clinical Neurophysiology, Ljubljana, SLOVENIA Center for Molecular and Human Genetics, New Orleans, LOUISIANA House Ear Institute, Los Angeles, CALIFORNIA Department of Neurology, Irvine, CALIFORNIA

42. THE LIGHTNING HYPERTEXT OF DISEASE.
    motor and sensory neuropathy type iv hereditary type iv motor and sensory neuropathyhereditary sensorymotor neuropathy, type iv neuropathy, hereditary motor  
    http://www.pathinfo.com/cgi-bin/lh.cgi?tx=heredopathia

43. Disorder Information - MDAC's Full Disorder List
    CharcotMarie-Tooth, X-linked (CMTX) / hereditary motor and sensory neuropathy Xlinked (HMNSX) Locus Xq13.1 Gene CX32 Gene product connexin 32 Inheritance  
    http://www.mdac.ca/english/disorder-info/disorder-info-23_long_disorder_3.htm

44. HONselect - Hereditary Motor And Sensory Neuropathies
    sensory Neuropathies, Dejerine-Sottas Disease - HMSN - HMSN Type III - HMSN TypeVII - hereditary, Type III, motor and sensory neuropathy - hereditary, Type  
    http://www.hon.ch/HONselect/RareDiseases/C10.500.300.html

45. HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE I (HMSN1) CHARCOT-MARIE-TOOTH ASSOC
    hereditary motor AND sensory neuropathy TYPE I (HMSN1) CHARCOTMARIE-TOOTH ASSOCIATEDWITH A PARTIAL, UNILATERAL OCULOmotor NERVE PALSY - A CASE REPORT.  
    http://www.dog.org/1999/e-abstract99/692.html
    
    Extractions: Introduction: In 1886 Charcot and Marie reported a case of hereditary motor and sensory neuropathy that was identical to a case simultaneously and independently described by Tooth. Inherited in an autosomal dominant pattern, HMSN1 is characterized by slowly progressive weakness and muscle wasting in distal limb muscles, initially in the legs. It progresses slowly upwards to involve the muscles of the upper extremities. During the past century, several reports have described cases of HMSN1 in which oculomotor dysfunction was found in combination with the more typical findings of the disease. On occasion, oculomotor abnormalities, such as ptosis or diplopia, have been reported as cases of HMSN1, when other problems may have been at fault, such as myasthenia gravis, CPEO, or Horner's syndrome. We describe a case in which a patient previously diagnosed as having HMSN1 was found to have a partial IIIrd cranial nerve palsy. Case: A 38 year old man was referred to our out patient department with a two year history of vertical diplopia. As an infant he had been treated for hip joint dysplasia, and he had also had childhood onset of a gait disorder and unsteadiness on his feet. At the age of 19 he acquired the diagnosis of HMSN1. During subsequent years he had only minimal and slow progression of his neurological symptoms. An ophthalmic examination found evidence of a partial, unilateral IIIrd cranial nerve paresis, but the remainder of his ophthalmic examination was unremarkable.

46. NORD - National Organization For Rare Disorders, Inc.
    These symptoms may involve sensory, motor, reflex, or blood vessel (vasomotor)functions. Organizations related to neuropathy, hereditary sensory, Type I  
    http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Neuropathy, H

47. Polyneuropathy With Other Specific Features
    Diphtheria. Perhexilene toxicity. hereditary motor and sensory neuropathy types1 and 3. hereditary motor sensory neuropathy (CharcotMarie-Tooth disease).  
    http://neuroland.com/nm/pn_specific.htm
    
    Extractions: Neuro Med Polyneuropathy with other specific features Prominent Dysautonomia Diabetes mellitus Guillain Barre Syndrome Amyloidosis - Wash Univ (familial and acquired) Vincristine induced Porphyria - Wash Univ Hereditary sensory and autonomic neuropathy HIV-related autonomic neuropathy Idiopathic pandysautonomia Paraneoplastic sensory and autonomic ganglionopathy Ataxic sensory neuropathy Paraneoplastic sensory neuronpathy - Wash Univ Nomalignant inflammatory sensory ganglionopathy Monoclonal protein-associated neuropathy cis-Platinum tocicity - Wash Univ Pyridoxine toxicity - Wash Univ Vitamin B12 deficiency Tabes dorsalis Hereditary sensory and autonomic neuropathy Friedreich's ataxia (Baylor) and other spinocerebellar ataxias Demyelinating Polyneuropathies Guillain Barre Syndrome and variants Chronic inflammatory demyelinating polyradiculoneuropathy CIDP review - Baylor Monoclonal protein-associated neuropathy ( Search for meaning in Monoclonal protein - Postgrad Med Aug 99 Osteosclerotic myeloma Diphtheria Perhexilene toxicity Hereditary motor and sensory neuropathy types 1 and 3 Hereditary neuropathy with predisposition to pressure palsies Hereditary Neuropathy Hereditary Motor Sensory Neuropathy (Charcot-Marie-Tooth disease) Hereditary neuropathy with predisposition to pressure palsies Familial brachial plexopathy Familial amyloidosis Porphyria Other rare peripheral neuropathies:

48. NeuroCAST - Diagnosing Hereditary Peripheral Neuropathy
    1 Among idiopathic peripheral neuropathy cases, DNA testing ultimately identifiesabout 42% of the cases as hereditary motorsensory neuropathy (HMSN), also  
    http://www.neurocast.com/site/content/sessions_06_2002.asp
    
    Extractions: Peripheral neuropathy encompasses a host of conditions resulting from damage to the peripheral nerves. Diagnosing peripheral neuropathies can present a challenge to neurologists because other diseases and disorders have similar symptoms - numbness, weakness, incoordination or other sensory or motor disturbance. Following a method described by Cornblath (see Figure 1), the clinician should first evaluate the central nervous system causes for disorders of the brain and spinal cord. If these diseases are excluded, the clinician should next determine if the clinical presentation is consistent with acquired or hereditary peripheral neuropathy. If both central and peripheral nervous system involvement is indicated, the clinician may need to include mitochondrial disorders in the differential evaluation. Acquired peripheral neuropathy can be caused by diabetes, toxic exposure, drug interactions, autoimmune diseases and alcoholism. If the clinician is able to exclude the common causes of peripheral neuropathy, DNA and autoimmune testing can play a critical role in making a diagnosis in cases of suspected hereditary or autoimmune peripheral neuropathies. Without the aid of DNA and autoimmune testing, about 30% of peripheral neuropathies remain idiopathic.

49. Medical Dictionary Online : V, HMSN (Hereditary Motor And Sensory Neuropathy Typ
    V, HMSN (hereditary motor and sensory neuropathy Type V) on the Free Online MedicalDictionary. V, HMSN (hereditary motor and sensory neuropathy Type V).  
    http://www.online-medical-dictionary.org/medical-dictionary-v/V-HMSN-Hereditary-

50. Search By Disease
    62 hereditary ironloading anemia. 63 hereditary motor and sensory neuropathy(HMSN). 69 hereditary motor sensory neuropathy 2A (HMSN2A).  
    http://www.eddnal.com/directory/disease.php?letter=H&page=5

51. Journal Articles Written About Charcot-Marie-Tooth Disease
    In CMT International and Abstracts of Some of the Articles May Be Found By SearchingMedline for Charcot Marie Tooth or hereditary motor sensory neuropathy .  
    http://www.geocities.com/dgosling_rn/journal.html
    
    Extractions: General Overviews of CMT "Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis." Pareyson D. Muscle Nerve. 1999 Nov;22(11):1498-509. " Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms", Warner LE, et al.;Annu Rev Med. 1999;50:263-75. Review. "The Roussy-Levy family: from the original description to the gene. ", Plante-Bordeneuve V, et al. Ann Neurol. 1999 Nov;46(5):770-3. "Hereditary motor and sensory neuropathy: the plot thickens. "Pleasure D. Arch Neurol. 1999 Oct;56(10):1195.

52. Hereditary Motor And Sensory Neuropathy-Lom
    hereditary motor and sensory neuropathy – Lom. Author Professor Luba KalaydjievaScientific Editor Professor Marianne de Visser. Creation date August 2002.  
    http://orphanet.infobiogen.fr/data/patho/GB/uk-HMSNL.html
    
    Extractions: HMSNL is a severe form of demyelinating CMT disease, associated with neural deafness in the majority of affected individuals. The diagnosis is based on: Clinical signs : Severe neuropathy with onset in the first decade of life, distally accentuated muscle weakness and wasting more pronounced in the lower limbs, foot and hand deformities. Hearing loss develops almost invariably in the 2nd-3rd decade; Electrophysiological signs : Nerve conduction velocities severely reduced in younger patients and usually unobtainable after age 15 years. Brainstem auditory evoked potentials (BAEPs) are markedly abnormal, with evidence of retrocochlear involvement of the central auditory pathways. Neuropathological signs : Severe reduction in myelinated fibre density and extensive endoneurial collagen deposition, increasing in severity with age. Abnormalities in the myelin sheath include uncompacted lamellae, abnormally oblique Schmidt-Lanterman incisures, and variable myelin thickness in adjacent internodes and complete demyelinisation of scattered internodes. Small onion bulb formations in younger patients gradually disappear with age. Active myelinated fibre degeneration is occasionally present in young patients. There is no evidence of regeneration of myelinated fibres, but the density of unmyelinated fibres is increased. Occasional demyelinated axons are packed with curvilinear profiles, similar to experimental vitamin E deficiency and dystorphic axons.

53. CJNS - Autosomal Recessive Motor And Sensory Neuropathy With Excessive Myelin Ou
    Two siblings, a 35year-old male and a 37-year-old female, offspring of first cousins,presented with a hereditary motor and sensory neuropathy with type I  
    http://www.canjneurolsci.org/21febtoc/autosoma.htm
    
    Extractions: Close Window Abstract: Two siblings, a 35-year-old male and a 37-year-old female, offspring of first cousins, presented with a hereditary motor and sensory neuropathy with type I clinical features which began to manifest at about age 10 years. Nerve biopsy in the proband showed it to be a type characterized by excessive myelin outfolding. Morphometric study revealed hypomyelination with focal thickenings due to outfoldings. Clinical, electrophysiological and morphological findings are virtually identical to those described by Ohnishi et al. The peculiarity of the neuropathological picture suggests a particular form of hereditary motor and senory neuropathy. Can. J. Neurol. Sci. 1994; 21: 29-33

54. The Association Of Hereditary Spastic Paraplegia And Hereditary Motor And Sensor
    In the third case (the mother of the siblings), the clinical diagnosis was consistentwith hereditary motor sensory neuropathy type 2, which was also confirmed  
    http://medicine.inonu.edu.tr/dergi/Contents/Volume2/Issue2/Abstract/193-195.html
    
    Extractions: The association of hereditary spastic paraplegia and hereditary motor and sensory neuropathy in the same family Münife Müftüoðlu , M.D., Ý. Özcan Ertürk , M.D., Cemal Özcan , M.D., Hakan Ekmekçi , M.D. The association of hereditary spastic paraplegia (HSP) and sensory neuropathies have been reported in a number of cases. But it is rare to detect both entities seperately in different members of the same family. In the present study, we report clinical and electrophysiological findings of three members of a family. In two of the siblings the clinical picture was indistinguishable from "pure" hereditary spastic paraplegia, but electrophysiological studies revealed a predominantly sensory polyneuropathy. In the third case (the mother of the siblings), the clinical diagnosis was consistent with hereditary motor sensory neuropathy type 2, which was also confirmed by electrophysiological studies. We believe that, with the further genetic reevaluations, the hereditary spastic paraplegia with sensory abnormalities may take a new place in the classification of hereditary motor and sensory polyneuropathies, as a distinct entity.[Journal of Turgut Özal Medical Center 2(2):193-195,1995] Key Words : Hereditary spastic paraplegia, hereditary motor and sensory neuropathy

55. AAPM&R - Case No. 43, Cont
    Predominantly sensory axonal polyneuropathy with some evidence of motor involvement,axonal and hereditary sensory Autonomic neuropathy IV (HSAN IV  
    http://www.aapmr.org/education/emgcases/emg5903e.htm
    
    Extractions: What is a Physiatrist? Legislative, Business and Clinical Practice Issues Annual Assembly Medical Education ... EMG EMG CASE No. 59, January 2003, continued Diagnostic Impression Nerve conduction studies showed absent sural sensory nerve potentials bilaterally, with borderline right ulnar sensory nerve evoked amplitude. Borderline low tibial compound motor action potential amplitude and delay in distal latencies bilaterally are also noted. Motor nerve conduction velocities were all borderline slow. Electromyography was essentially normal. Bibliography Hilz MJ. Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations. Clin Auton Res 2002 May;12 Suppl 1:I33-43. Nolano M, Crisci C, Santoro L et al. Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis. Clin Neurophysiol 2000 Sep;111(9):1596-601.

56. AAPM&R - EMG Case No. 59, Cont
    abetalipoproteinemia, idiopathic sensory neuropathy, autoimmune disorders includingHIV), hereditary sensory Autonomic Neuropathies child has any motor symptoms  
    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.

57. A GUIDE TO PERIPHERAL NEUROPATHY.
    Includes Charcot Marie Tooth Disease, an hereditary motor and sensory neuropathy(HMSN). May be as high as 1in 2500 people affected in some form.  
    http://www.pdn-info.co.uk/Page_7.html

58. Leucodistrofie/Parametri Genetici Delle Neuropatie Sensomotorie Ereditarie (HMSN
    hereditary neuralgic amyotrophy (HNA) Focal signs sensory loss at unusual sitesof compression Progressive generalized sensorymotor neuropathy May occur  
    http://www.peacelink.it/appeal/gianmarco/parametr.html
    
    Extractions: Andermann syndrome Cowchock Dejerine-Sottas Focally folded myelin sheaths HMSN: Complex HMSN: Demyelinating Dominant: IA; IB; HNPP; III Recessive: III; 4A; 4B; ?4C X-linked HMSN: Axonal Dominant: II; IIA; IIB; IIC; IID; 5; 6 X-linked HMSN: Types Liability to pressure palsies Other: Myelin disorders; Recessive Cockayne's Congenital hypomyelinating neuropathy Krabbe Metachromatic leukodystrophy Refsum's disease Other: Childhood onset Types IA, IB, III, HNPP, and neuropathy with focally folded myelin sheaths have demyelinationas a prominent component. Type II is predominantly axonal. X-linked forms may have demyelination or predominantly axonal loss. Other hereditary motor-sensory neuropathies are often associated with complex clinical syndromes or specific metabolic abnormalities. Among them also the hereditary distal motor neuropathies. < 6 y.o. Myelin sheaths thinner than normal Homozygotes PMP-22 duplication (4 copies); Chromosome 17p11.2-p12 Clinical features Most severe weakness Earlier onset < 20 yrs): Classic form Phytanic Acid Oxidase ; Recessive Retinitis Pigmentosa Demyelinating Neuropathy Course may be Progressive or Relapsing High CSF Protein Anosmia; deafness Cardiac Failure (may cause sudden death) Less common: Ataxia, Ichthyosis Biochemistry Elevated serum phytanic acid Reduced oxidation of phytanic acid in fibroblasts Treatment with low phytanic acid diet Infantile onset ?peroxisomal disorder; Autosomal recessive Mental retardation Demyelinationg neuropathy Deafness Retinitis pigmentosa Biochemistry Hepatomegaly; steatorrhea Hypocholesterolemia Accumulation of phytanic acid, pipecolic acid, very long chain fatty acids Adult onset with increased pipecolicacidemia ; ? peroxisomal disorder; Chromosome 10p; Recessive

59. OUP USA: ToC: Diagnosis And Management Of Peripheral Nerve Disorders
    Diabetic Neuropathies 20. Peripheral neuropathy Associated with HIV Infection 21.hereditary motor and sensory Neuropathies and Giant Axonal neuropathy 22.  
    http://www.oup-usa.org/toc/tc_0195133013.html

60. Neuromuscular Diseases - Internet Handbook Of Neurology
    Louis; hereditary motor sensory Neuropathies CharcotMarie-Tooth - Washington University,St. Louis; neuropathy of Friedreich Ataxia - eMedicine/Neurology. Nerve  
    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 EMG - CASA Engineering (with pictures) Conventional Needle EMG - Uppsala University, SE 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

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

41-60 of 94    Back | 1  | 2  | 3  | 4  | 5  | Next 20