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

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2002; 39:870-874 Four Siblings with Type II Hereditary Sensory and Autonomic Neuropathy Sriparna Basu Dilip Kumar Paul 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

Diseases Database [Previous page] [Search] [Index] [Feedback] Diseases Database disease, symptom, sign, etc alphabetical index : H H1 antagonists see Histamine H1 receptor antagonists H2 antagonists see Histamine H2 receptor antagonists Haas syndrome see Syndactyly type 4 Haber's syndrome Habitus abnormality Haem arginate Haemangioma see Hemangioma Haemangiopericytoma see Hemangiopericytoma Haemarthrosis Haematemesis see Hematemesis Haematocele Haematocoele see Haematocele Haematocolpos Haematological abnormality see Hematological abnormality Haematoma Haematometra Haematosalpinx see Hematosalpinx Haematuria Haemin see Haem arginate Haemochromatosis Haemodialysis see Renal dialysis Haemoglobin Bart's Haemoglobin C disease Haemoglobin D disease ... Haemoglobin E disease Haemoglobin F Disease see Hemoglobin F Disease Haemoglobin H disease see Hemoglobin H disease Haemoglobin hereditarily defective / deficient see Haemoglobinopathy Haemoglobin levels low (peripheral blood) see Anemia Haemoglobin levels raised (peripheral blood) Haemoglobin SC disease Haemoglobinopathy Haemoglobinuria see Haematuria Haemolysed blood sample Haemolytic anaemia Haemolytic disease of the newborn Haemolytic uraemic syndrome see Thrombotic thrombocytopenic purpura Haemophilia type A Haemophilia type B Haemophilia type C ... Haemophilus aegyptius Haemophilus ducreyi see Chancroid Haemophilus influenzae Haemoptysis Haemorrhage of pregnancy Haemorrhagic disease of newborn see Hemorrhagic disease of newborn (Vitamin K deficiency) Haemorrhoids Haemosiderin deposition see Hemosiderin deposition Haemosiderosis Haemostasis abnormality

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

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

-MS Care Center -NeuroRehabilitation -Clinical Neurophysiology -Neuromuscular Disease Program ... 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 Diabetic neuropathy Neuropathies associated with monoclonal gammopathies and paraproteinemias Sensory ganglioneuropathy Neuropathies associated with collagen vascular diseases Inflammatory polyradiculoneuropathy (CIDP, Guillain-Barre syndrome) Drug induced and toxic neuropathies Autonomic nervous system disorders Nerve entrapment and compression syndromes Myopathies Inflammatory myopathies (dermatomyositis, polymyositis, viral myositis) Inclusion body myositis Drug induced myopathies Myopathies associated with collagen vascular diseases Muscular dystrophies with adult onset Facioscapulohumeral dystrophy Limb-girdle muscular dystrophies Scapuloperoneal muscular dystrophy Distal myopathies Oculopharyngeal muscular dystrophy Spinal muscular atrophies Motor Neuron Disease Genetically determined neuropathies Hereditary sensory and motor neuropathy Myotonic syndromes Myotonic dystrophy Proximal myotonic myopathy Congenital myotonias Periodic paralysis Mitochondrial myopathies Endocrine myopathies Hereditary and acquired ataxias Brachial and lumbar plexopathies Familial spastic paraplegia

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

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

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. CMT 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. What is Charcot-Marie-Tooth 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). Medical name 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

Research Digest Diseases of Peripheral Nerve - MDA Resources - Charcot-Marie Tooth Disease Page Friedreich's Ataxia Disease Page Dejerine-Sottas Disease Page - Primary Scientific Literature - Mar. 02 "Stepwise" CMT might respond to immunosuppressants Gabriel CM et al. Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a). J Neurol Neurosurg Psychiatry. 2002 Feb;72(2):230-5. PubMed abstract MDA Technical Summary Mar. 02 Chimera: monster or savior? MDA Technical Summary Mack TGA et al. Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene. Nat Neurosci. 2001 Dec;4(12):1199-206. PubMed abstract Wang MS et al. The WldS protein protects against axonal degeneration: a model of gene therapy for peripheral neuropathy. Ann Neurol. 2001 Dec;50(6):773-9. PubMed abstract Nov. 01 Unraveling Friedreich's ataxia Patel PI and Isaya G et al. Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency. Am J Hum Genet. 2001 Jul;69(1):15-24. Review. PubMed abstract MDA Technical Summary Nov. 01

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

Surgical treatment of a tomaculous neuropathy 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

1999 Annual Scientific Meeting Abstracts 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. *Department of Orthopaedic Surgery, Hadassah Medical Centre, Hebrew University, Jerusalem, Israel. **Foot and Ankle Services, Union Memorial Hospital, Baltimore Maryland USA. 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

Main Menu Home Page Charcot Marie Tooth: (hereditary motor sensory neuropathy) - 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);

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

Page 5     81-94 of 94    Back | 1  | 2  | 3  | 4  | 5