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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. BioMed Central Abstract A Molecular Basis For Hereditary
    Report A Molecular Basis for hereditary motor and sensory neuropathy Disorders MichaelE Shy MD, Janne Balsamo PhD, Jack Lilien PhD and John Kamholz MD, PhD  
    http://www.biomedcentral.com/1528-4042/1/77/abstract

82. Indian Pediatrics - Editorial
    hereditary sensory and Autonomic Neuropathies (HSAN) are a group of rare disorderscharacterized by prominent sensory and autonomic neuropathy without motor  
    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

83. Hereditary Sensorimotor Neuropathy Type 2 Information Page Diseases Database
    hereditary sensorimotor neuropathy type 2 aka/or hereditary sensorymotor neuropathytype 2 aka/or HSMN type 2 aka/or Peroneal muscular atrophy type 2 aka/or  
    http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=2343

84. Diseases Database Disease, Symptom, Sign, Etc Alphabetical Index : H Diseases Da
    neuropathy type 4 see Refsum's disease hereditary sensorimotor neuropathy type6 see hereditary sensorymotor neuropathy type 6 hereditary sensorimotor  
    http://www.diseasesdatabase.com/sieve/disease_index_h.asp

85. Giant Axonal Neuropathy (codes) Hered. Motor And Sensory
    neuropathy of infancy, HMSN IV refers to Refsum disease, HMSN V refers to a conditionmarked by a hereditary motor and sensory neuropathy associated with  
    http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=247

86. THE MERCK MANUAL, Sec. 14, Ch. 183, Disorders Of The Peripheral Nervous System
    hereditary motor and sensory neuropathy types I and II (CharcotMarie-Tooth disease,peroneal muscular atrophy) is a relatively common, usually autosomal  
    http://www.merck.com/pubs/mmanual/section14/chapter183/183f.htm
    
    Extractions: This Publication Is Searchable The Merck Manual of Diagnosis and Therapy Section 14. Neurologic Disorders Chapter 183. Disorders Of The Peripheral Nervous System Topics [General] Lower And Upper Motor Neuron Disorders Nerve Root Disorders Plexus Disorders ... Disorders Of Neuromuscular Transmission Peripheral Neuropathy A syndrome of sensory loss, muscle weakness and atrophy, decreased deep tendon reflexes, and vasomotor symptoms, alone or in any combination. Etiology Trauma is the most common cause of a localized injury to a single nerve. Violent muscular activity or forcible overextension of a joint may produce a focal neuropathy, as may repeated small traumas (eg, tight gripping of small tools, excessive vibration from air hammers). Pressure or entrapment paralysis usually affects superficial nerves (ulnar, radial, peroneal) at bony prominences (eg, during sound sleep or during anesthesia in thin or cachectic persons and often in alcoholics) or at narrow canals (eg, in carpal tunnel syndrome). Pressure paralysis may also result from tumors, bony hyperostosis, casts, crutches, or prolonged cramped postures (eg, in gardening). Hemorrhage into a nerve and exposure to cold or radiation may cause neuropathy. Mononeuropathy may result from direct tumor invasion. Acute Viral Encephalitis and Aseptic Meningitis in Ch. 176).

87. Neuromuscular Disease Program
    Spinal muscular atrophies; motor Neuron Disease; Genetically determinedneuropathies hereditary sensory and motor neuropathy; Myotonic  
    http://www.hjd.org/hospitals/hjd/html/body_neuromuscular_disease_program.html
    
    Extractions: Center Neuromuscular Disease Program The Neuromuscular Disease Program at the Hospital for Joint Diseases provides comprehensive diagnosis and treatment services to adults with neuromuscular disorders. The following outlines some of the conditions treated within the program: Acquired polyneuropathies

88. Neurology - CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY
    In fact, the commonest chronic neuropathy seen in children is an hereditary motorand sensory neuropathy (HMSN) type I. Evidence of familial involvement is  
    http://www.mc.vanderbilt.edu/peds/pidl/neuro/cipd.htm
    
    Extractions: PIDL Home/ Contents Development Nutrition Acute Illness ... Psychosocial Neurology CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY Chronic inflammatory demyelinating polyneuropathy (CIDP) is a sporadic acquired disorder which may mimic an inherited neuropathy in childhood. In fact, the commonest chronic neuropathy seen in children is an hereditary motor and sensory neuropathy (HMSN) type I. Evidence of familial involvement is perhaps the single most important characteristic in distinguishing hereditary from acquired disorders in children. It is important to recognize the acquired CIDP since it is potentially a treatable disease and its diagnosis may be suggested by clinical, electrophysiologic and nerve biopsy features. Chronic inflammatory demyelinating polyneuropathy (CIDP) is distinguished from the more common acute demyelinating neuropathy, the Guillain-Barre syndrome (GBS), chiefly by clinical course and prognosis. On the one hand, both disorders have similar clinical features, and both share the CSF albuminocytological dissociation and the pathological abnormalities of multi- focal inflammatory segmental demyelination with associated nerve conduction features reflecting demyelination. An autoimmune basis is suspected for both CIDP and GBS. On the other hand, CIDP has a more protracted clinical course, is rarely associated with preceding infections in children and responds to corticosteroid therapy. In addition, CIDP has an association with HLA antigens as well as an association with the M-phenotype of alpha-one antitrypsin deficiency.

89. Hmsn2
    CMT is also known as Peroneal Muscular Atrophy and hereditary motor sensory Neuropathytypes 1 2 and X. The peroneal type of muscular atrophy was separated  
    http://www.btinternet.com/~david.g0tlt/cmt/hmsn.html
    
    Extractions: Charcot Marie Tooth I decided to put this information on my web page because my Wife and 2 Children suffer from H.M.S.N Type 1, along with another rare Genetic Disorder called Nail Patella Syndrome. Statistics indicate that both of these conditions are very rare, and the chance of finding one person with both conditions is practically impossible. There are 3 members of my family who have both of these conditions. I hope you find this information useful. Most of the information here has been extracted from various sites on the net. If you would like to know more, please. Is the most commonly inherited disorder of the peripheral nervous system, it affects the sensory and muscle control nerves of the lower arms and legs. Charcot-Marie-Tooth disorder or CMT is a disorder of the peripheral nervous system that affects the sensory and motor nerves of the lower arms and legs. For many years, it has been know that CMT is one of the few disorders, which show all the known patters of inheritance (dominant inheritance, recessive inheritance, and X-linked inheritance). CMT is also known as Peroneal Muscular Atrophy and Hereditary Motor Sensory Neuropathy types 1 2 and X. The peroneal type of muscular atrophy was separated from the other forms of progressive neuromuscular disorders in 1886 simultaneously by the doctors, Charcot and Marie in France, and Tooth in the UK. It was Tooth who first mentioned that out of the shin muscles of the leg, medically known as the peroneus muscle, which lifts the foot (without it there is foot drop and severe turning out) was affected by the disease. Therefore, Tooth called the disease Peroneal Muscular Atrophy, a term which means the same as CMT disease.

90. MDA Research Digest: Category By Disease Group
    CM et al. Immunological study of hereditary motor and sensory neuropathytype 1a (HMSN1a). J Neurol Neurosurg Psychiatry. 2002 Feb  
    http://www.mdausa.org/research/digest/periph.html

91. Surgical Treatment Of Tomaculous Neuropathy
    We present a case of hereditary neuropathy with liability amplitudes and reduced sensoryconduction velocities. a moderately severe, sensorimotor, right ulnar  
    http://www.rcsed.ac.uk/journal/vol46_4/4640012.htm
    
    Extractions: T.F. TAGGART and T.R. ALLEN Orthopaedic Department, Chesterfield and North Derbyshire Royal Infirmary, Chesterfield UK Case History Discussion References Key words: Neuropathy, pressure palsy, tomaculous J.R.Coll.Surg.Edinb., 46, August 2001, 240-241 CASE HISTORY A 28-year-old right-handed welder presented with an 8-month history of sensory changes, discomfort with prolonged grip and difficulty moving small objects (keys and coins) in his right hand. This was affecting his ability to undertake his job effectively. He had no history of injury to the right wrist or elbow in the past, and did not complain of any neck trouble. The family history revealed that one other sibling, and also his mother, suffered with bilateral carpal tunnel syndrome. At this point a diagnosis of right ulnar neuritis was made, and he was sent for nerve conduction studies. Sensory studies of both median and ulnar nerves and the right sural nerve revealed sensory action potentials with reduced amplitudes and reduced sensory conduction velocities. Motor studies of the right ulna nerve showed conduction block at the level of the elbow and reduction of motor conduction velocity across the elbow. A motor study of the left ulnar nerve revealed a reduction in the motor conduction velocity across the elbow. Distal motor latencies to the right and left abductor policis brevis were prolonged. The distal motor latency to the right extensor digitorum brevis was prolonged and the motor conduction velocity of the right peroneal nerve was slightly reduced.

92. Neuromuscular Large+Small Sensory
    Ulceromutilating Neuropathies Dominant. hereditary sensory MotorNeuropathy with Ulcero-mutilation 1 l Autosomal Dominant Genetics  
    http://www.neuro.wustl.edu/neuromuscular/sensory-large small.html

93. 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.

94. Wheeless' Textbook Of Orthopaedics
    Main Menu Home Page Charcot Marie Tooth (hereditary motor sensoryneuropathy). Discussion - type I, type II, and type III are  
    http://www.ortho-u.net/o16/94.htm
    
    Extractions: Main Menu Home Page - Discussion: type I type II , and type III are most common; - type IV: - is also referred to as Refsum disease; - associated w/ excess phytanic acid; - type V: - inherited spastic paraplegia with distal weakness in the limbs; - usually presents in the second decade of life or later; - patients develop awkward gait and equinus foot deformities; - type VI involves optic atrophy in association with peroneal muscular atrophy; - type VII is characterized by retinitis pigmentosa associated with distal muscle weakness in the limbs and atrophy; - Clinical Features: - patients may present w/ muscle cramps, difficulty with gait or w/ deformities of the feet; - upper extremity in CMT: - hip joint: look for proximal muscle weakness, and hip dysplasia; - pes cavus in CMT : - loss of proprioception and vibratory sensation is common in the lower extremities; - young patients should be checked for ataxia, as this might indicate Friedreich's Ataxia (rather than CMT);

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