Infobox Disease Name Neuromyotonia Image Caption DiseasesDB 31818 ICD10 ICD10 G 71 1 g 70 ICD9 ICD9 333.90 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D020386 Neuromyotonia NMT , also known as Isaacs syndrome , is a form of peripheral nerve hyperexcitability that causes spontaneous muscle muscular activity resulting from repetitive motor unit action potentials of peripheral origin. Causes The three causes of NMT are 1 Acquired 2 Paraneoplastic 3 Hereditary The acquired form is the most common accounting for up to 80 percent of all cases and is suspected to be autoimmune mediated, which is usually caused by antibody antibodies against neuromuscular junction. The exact cause is unknown. However, autoreactive antibodies can be detected in a variety of peripheral e.g. myasthenia gravis , Lambert Eaton myasthenic syndrome and central nervous system e.g. paraneoplastic cerebellar degeneration , paraneoplastic limbic encephalitis disorders. Their causative role has been established in some of these diseases but not all. Neuromyotonia is considered to be one of these with accumulating evidence for autoimmune disorder autoimmune origin over the last few years. Some neuromyotonia cases do not only improve after blood plasma plasma exchange but they may also have antibodies in their blood ... Maddison P title Neuromyotonia journal Clinical Neurophysiology volume 117 issue 10 pages 2118 27 year ... is made, which often exacerbates the symptoms of NMT. In some rare cases, acquired neuromyotonia has ... Neuromyotonia is a type of peripheral nerve hyperexcitability. Peripheral nerve hyperexcitability ... to most severe benign fasciculation syndrome, cramp fasciculation syndrome, and neuromyotonia. Some .... http brain.oxfordjournals.org cgi reprint 125 8 1887.pdf Treatments There is no known cure for neuromyotonia ... , usually provide significant relief from the stiffness, muscle spasms, and pain associated with neuromyotonia ... diseases ca Neuromiotonia de Neuromyotonie nl Neuromyotonie pl Zesp Isaacsa Mertensa fi Neuromyotonia ... more details
Orphan date February 2009 Ian K. Hart was a lecturer and consultant in neurology at The Walton Centre in Liverpool . He ran a clinic for neurological paraneoplastic syndrome s, myasthenia gravis , neuromyotonia , Lambert Eaton myasthenic syndrome , and autoimmune encephalitis . He was also the founder member of the Walton Centre Clinical Neuroimmunology Group researching on autoantibody associated neurological diseases. He died on November 10, 2008. Fact date February 2009 Published papers Dr. Hart published over 17 peer reviewed papers on these subjects, which, since 1976, have been cited over 475 times, according to Scopus . Two of them have been cited over 100 times Hart, I.K., Waters, C., Vincent, A., Newland, C., Beeson, D., Pongs, O., Morris, C., Newsom Davis, J. Autoantibodies detected to expressed K channels are implicated in neuromyotonia 1997 Annals of Neurology, 41 2 , pp. 238 246. Cited 135 times . ref http www.scopus.com scopus inward record.url?eid 2 s2.0 0031049188&partnerID 40 ref Hart, I.K., Maddison, P., Newsom Davis, J., Vincent, A., Mills, K.R. Phenotypic variants of autoimmune peripheral nerve hyperexcitability 2002 Brain , 125 8 , pp. 1887 1895. Cited 106 times . ref http www.scopus.com scopus inward record.url?eid 2 s2.0 0036348608&partnerID 40 ref External links http discover decouvrir.cisti icist.nrc cnrc.gc.ca dcvr ctrl?req 22Hart Ian C2 A0K 22&index author&action dsere National Research Council Canada References Reflist Persondata Metadata see Wikipedia Persondata . NAME Hart, Ian K. ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH 1932 PLACE OF BIRTH DATE OF DEATH 2008 PLACE OF DEATH DEFAULTSORT Hart, Ian K. Category British neurologists Category 1932 births Category 2008 deaths ... more details
Wikify date January 2011 Orphan date January 2011 Userspace draft source ArticleWizard date July 2010 Cramp Fasciculation Syndrome is a rare ref cite journal last1 Jansen first1 P. H. P. last2 Dijck first2 J. A. A. M. last3 Verbeek first3 A. L. M. last4 Durian first4 F. W. last5 Joosten first5 E. M. G. title Estimation of the frequency of the muscular pain fasciculation syndrome and the muscular cramp fasciculation syndrome in the adult population journal European Archives of Psychiatry and Clinical Neuroscience volume 241 issue 2 pages 102 4 year 1991 pmid 1834178 doi 10.1007 BF02191150 ref peripheral nerve hyperexcitability disorder. It is more severe than the related and common disorder known as benign fasciculation syndrome , causing fasciculations, cramps, pain, fatigue, and muscle stiffness similar to that seen in neuromyotonia , another related condition. ref cite book first1 Allan H. last1 Ropper first2 Robert H. last2 Brown year 2005 chapter Disorders of Muscle Characterized by Cramp, Spasm, Pain, and Localized Masses title Adams and Victor s Principles of Neurology edition 8th publisher McGraw Hill location New York pages 1277 8 isbn 978 0 07 141620 7 ref Patients with CFS, like those with neuromyotonia, may also experience paresthesias. ref cite journal first1 Ian K. last1 Hart first2 Paul last2 Maddison first3 John last3 Newsom Davis first4 Angela last4 Vincent first5 Kerry R. last5 Mills title Phenotypic variants of autoimmune peripheral nerve hyperexcitability journal Brain volume 125 issue 8 pages 1887 95 year 2002 pmid 12135978 doi 10.1093 brain awf178 ref Most cases of cramp fasciculation syndrome are idiopathic, but an autoimmune origin is suspected. ref cite journal last1 Lagueny first1 A title Cramp fasciculation syndrome journal Revue neurologique volume 161 issue 12 Pt 1 pages 1260 6 year 2005 pmid 16340924 ref Cramp fasciculation syndrome is diagnosed by clinical examination and electromyographic study EMG . ref Washington University in St. Lo ... more details
Angela Vincent born 1942 is a professor at Somerville College, Oxford Somerville College of University of Oxford Oxford University . She is the head of a research group, which is located in the Weatherall Institute of Molecular Medicine and working on a wide range of biology biological disciplines encompassing molecular biology , biochemistry , cellular immunology and intracellular neurophysiology . The group s research is focused on autoimmune and genetic disorder s of the neuromuscular junction and peripheral motor nerves. The principal autoimmune diseases studied are myasthenia gravis , the Lambert Eaton myasthenic syndrome and acquired neuromyotonia . Her contributions are mainly on the roles of antibodies directed against ion channel at the nerve muscle junction in the pathogenesis of above mentioned diseases. She has demonstrated that transfer of these antibody antibodies across the placenta from the pregnant woman to the fetus in utero can cause developmental abnormalities. She has also worked on the principal gene mutation s causing neuromuscular diseases. In 2009 she presented the Leslie Oliver Oration at Queen s Hospital . ref http www.bhrhospitals.nhs.uk neuro neuro4ha.php?id 1034 ref References Reflist 2 External links 1. http www.neuroscience.ox.ac.uk directory angela vincent 2. http www.imm.ox.ac.uk pages research neurosciences vincent.htm Persondata Metadata see Wikipedia Persondata . NAME Vincent, Angela ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH 1942 PLACE OF BIRTH DATE OF DEATH PLACE OF DEATH DEFAULTSORT Vincent, Angela Category 1942 births Category Living people Category British biologists Category English neuroscientists Category Fellows of Somerville College, Oxford ... more details
Infobox disease Name Myokymia Image Caption DiseasesDB 31530 ICD10 ICD9 ICDO OMIM MedlinePlus eMedicineSubj neuro eMedicineTopic 235 MeshID D020385 Myokymia , is an involuntary, spontaneous, localized quivering of a few muscles bundles within a muscle, but which are insufficient to move a joint . One type is superior oblique myokymia . Myokymia is commonly used to describe an involuntary eyelid muscle contraction, typically involving the lower eyelid or less often the upper eyelid. It occurs in normal individuals and typically starts and disappears spontaneously. However, it can sometimes last up to three weeks. Since the condition typically resolves itself, medical professionals do not consider it to be serious or a cause for concern. In contrast, Facial myokymia is a fine rippling of muscles on one side of the face and may reflect an underlying tumor in the brainstem typically a brainstem glioma , loss of myelin in the brainstem associated with multiple sclerosis or in the recovery stage of Guillain Barre syndrome, an inflammatory polyneuropathy that may affect the facial nerve. Citation needed date August 2010 Myokymia in otherwise unrelated body parts may occur in neuromyotonia . Causes Frequent contributing factors include too much caffeine, high levels of anxiety, fatigue, stress, overwork, overexposure to computer television monitors, and a lack of sleep. Usage of certain drugs or alcohol may also be factors. ref name ET cite web title EyeTwitching.net Myokymia Causes year 2010 url http eyetwitching.net eye twitching causes accessdate 2010 10 22 ref Treatment Many doctors commonly recommend a combined treatment of a warm compress applied to the eyes to relieve muscle tension, relax the muscles, and reduce swelling a small dosage of antihistamine to reduce any swelling that may be caused by an allergic reaction increase bed rest to allow muscles to rest decrease exposure to computer screens, televisions, or harsh lighting to allow muscles to rest and monitor c ... more details
structures regulating the sleep wake and autonomic functions. ref name cardiac NeuromyotoniaNeuromyotonia ... rippling and twitching movements of muscles, is a visible component of neuromyotonia ... activity of the laryngeal muscles . Laryngeal spasm possibly resulting from neuromyotonia has ... other, yet undefined humoral factors have been implicated in anti VGKC antibody negative neuromyotonia ... are the type of potassium channel most strongly associated with acquired neuromyotonia and Morvan s Syndrome. ref cite journal title Neuromyotonia and limbic encephalitis sera target mature Shaker ... more details
see also Twitch disambiguation Tremor SignSymptom infobox Name Fasciculation Image Caption DiseasesDB 18832 ICD10 ICD10 R 25 3 r 25 ICD9 ICD9 781.0 ICDO OMIM MedlinePlus 003296 eMedicineSubj eMedicineTopic MeshID D005207 A fasciculation IPA en f s kj le n , or muscle twitch , is a small, local, involuntary muscle contraction and relaxation visible under the skin arising from the spontaneous discharge of a bundle of skeletal muscle fibers muscle fascicle . Fasciculations have a variety of causes, the majority of which are benign , but can also be due to disease of the motor neurons. Causes and risk factors Conditions The origin of most cases is at present unknown and usually inconclusive, has therefore been given the title benign fasciculation syndrome . ref name pmid8215252 cite journal author Blexrud MD, Windebank AJ, Daube JR title Long term follow up of 121 patients with benign fasciculations journal Ann. Neurol. volume 34 issue 4 pages 622 5 year 1993 pmid 8215252 doi 10.1002 ana.410340419 ref Neuromyotonia Isaacs syndrome Lower motor neuron lesion Werdnig Hoffman disease Amyotrophic lateral sclerosis Kennedy disease Organophosphate poisoning Benzodiazepine withdrawal Magnesium deficiency medicine Magnesium deficiency which can be caused by stress Myalgic Encephalomyelitis Dehydration Fatigue medical Fatigue Lyme Disease Myasthenia Gravis Rabies Fibromyalgia Medications Other risk factors may include the use of anticholinergic drugs over long periods, in particular ethanolamine s such as diphenhydramine Benadryl , used as an antihistamine and sleep aid, and dimenhydrinate Dramamine for nausea and motion sickness. Persons with benign fasciculation syndrome BFS may experience paraesthesia shortly after taking such medication fasciculation episodes begin as the medication wears off. Stimulant s can cause fasciculations directly. These include caffeine , pseudoephedrine Sudafed , amphetamines , and the asthma bronchodilator s salbutamol e.g. Proventil, Combivent ... more details
Infobox Disease Name Myopathy Image Caption DiseasesDB 8723 ICD10 ICD10 G 71 g 70 ICD10 G 72 g 70 , ICD10 M 60 m 60 ICD10 M 63 m 60 ICD9 ICD9 359.4 ICD9 359.9 , ICD9 728 ICD9 728 ICDO MedlinePlus eMedicineSubj emerg eMedicineTopic 328 MeshID D009135 In medicine , a myopathy is a muscular disease ref name urlMyopathy Definition from the Merriam Webster Online Dictionary cite web url http www.merriam webster.com dictionary Myopathy title Myopathy Definition from the Merriam Webster Online Dictionary format work accessdate ref in which the muscle fiber s do not function for any one of many reasons, resulting in muscular weakness . Myopathy simply means muscle disease myo Greek language Greek muscle pathos pathos pathy Greek language Greek suffering . This meaning implies that the primary defect is within the muscle, as opposed to the nerves neuropathies or neurogenic disorders or elsewhere e.g., the brain etc. . Muscle cramp s, stiffness , and spasm can also be associated with myopathy. Muscular disease can be classified as Neuromuscular disease neuromuscular or Musculoskeletal disorders musculoskeletal in nature. Some conditions, such as myositis , can be considered both neuromuscular and musculoskeletal. Classes There are many types of myopathy. ICD ICD 10 codes are provided here where available. Congenital G71.0 muscular dystrophies Dystrophies or muscular dystrophies are a subgroup of myopathies characterized by muscle degeneration and regeneration. Clinically, muscular dystrophies are typically progressive, because the muscles ability to regenerate is eventually lost, leading to progressive weakness, often leading to use of a wheelchair , and eventually death, usually related to respiratory weakness. G71.1 Myotonia Neuromyotonia G71.2 The congenital myopathy congenital myopathies do not show evidence for either a progressive dystrophic process i.e., muscle death or inflammation, but instead characteristic microscopic changes are seen in association with reduce ... more details
Infobox Scientist name John Newsom Davis box width image image width caption birth date birth date 1932 10 18 df y birth place Harpenden , Hertfordshire death date death date and age 2007 8 24 1932 10 18 df y death place Adjud , Romania residence England citizenship United Kingdom British nationality United Kingdom British field Neurology work institutions National Hospital for Neurology and Neurosurgery National Hospital br Royal Free Hospital br Weill Cornell Medical College of Cornell University Cornell Medical Center 1969 70 br University of Oxford Oxford University 1987 98 alma mater Pembroke College, Cambridge doctoral advisor doctoral students known for influences Michael Kramer influenced Angela Vincent prizes Queen Square Prize in Neurology br Royal College of Physicians RCP Jean Hunter Prize br Ellison Cliffe Lecture & Medal br Royal College of Physicians RCP Moxon Medal br ABN Medal ref name ABN religion footnotes John Michael Newsom Davis Order of the British Empire CBE , Royal College of Physicians FRCP , Fellow of the Royal Society FRS , Academy of Medical Sciences FMedSci 18 October 1932 &ndash 24 August 2007 was a Neurology neurologist who played an important role in the discovery of the causes of, and treatments for, Myasthenia gravis , and of other diseases of the Neuromuscular junction nerve muscle junction , notably Lambert Eaton myasthenic syndrome and acquired neuromyotonia . ref name obit I cite news last Vincent first Angela authorlink Angela Vincent title Professor John Newsom Davis url http news.independent.co.uk people obituaries article2973568.ece publisher The Independent page 34 date 18 September 2007 accessdate 2007 09 18 obituary ref Regarded as one of the most distinguished clinical neurologists and medical scientists of his generation, ref name obit G cite news last Weatherall first David authorlink David Weatherall title John Newsom Davis Neurologist whose work had wide implications in biology and medicine url http www.guardian.co. ... more details
drugbox verifiedrevid 418431186 IUPAC name 5 H dibenzo b , f azepine 5 carboxamide image Carbamazepine Structural Formulae.png width 250 image2 Carbamazepine 3D.png width2 220 CASNo Ref cascite correct CAS UNII Ref fdacite correct FDA UNII 33CM23913M InChI 1 C15H12N2O c16 15 18 17 13 7 3 1 5 11 13 9 10 12 6 2 4 8 14 12 17 h1 10H, H2,16,18 smiles c1ccc2c c1 C Cc3ccccc3N2C O N InChIKey FFGPTBGBLSHEPO UHFFFAOYAM ChEMBL Ref ebicite correct EBI ChEMBL 108 StdInChI Ref stdinchicite correct chemspider StdInChI 1S C15H12N2O c16 15 18 17 13 7 3 1 5 11 13 9 10 12 6 2 4 8 14 12 17 h1 10H, H2,16,18 StdInChIKey Ref stdinchicite correct chemspider StdInChIKey FFGPTBGBLSHEPO UHFFFAOYSA N CAS number 298 46 4 ChemSpiderID Ref chemspidercite correct chemspider ChemSpiderID 2457 CAS supplemental CAS 85756 57 6 dihydrate ATC prefix N03 ATC suffix AF01 ATC supplemental PubChem 2554 DrugBank DB00564 KEGG Ref keggcite correct kegg KEGG D00252 C 15 H 12 N 2 O 1 molecular weight 236.269 g mol bioavailability 80 protein bound 76 metabolism Liver Hepatic by CYP3A4 , to active epoxide form carbamazepine 10,11 epoxide elimination half life 25 65 hours excretion 2 3 excreted unchanged in urine pregnancy US D legal AU legal UK POM legal US Rx only legal status routes of administration Oral Carbamazepine CBZ is an anticonvulsant and mood stabilizer mood stabilizing drug used primarily in the treatment of epilepsy and bipolar disorder , as well as trigeminal neuralgia . It is also used off label use off label for a variety of indications, including attention deficit hyperactivity disorder ADHD , schizophrenia , phantom limb syndrome, complex regional pain syndrome , paroxysmal extreme pain disorder , neuromyotonia , intermittent explosive disorder, and post traumatic stress disorder . It has been seen as safe for pregnant women to use carbamazepine as a mood stabilizer, ref Gelder, M., Mayou, R. and Geddes, J. 2005. Psychiatry. 3rd ed. New York Oxford. pp250. ref but, like other anticonvulsant ... more details
Infobox Disease Name Episodic ataxia Image Caption DiseasesDB 32380 ICDO OMIM 160120 OMIM mult OMIM2 108500 OMIM2 606554 OMIM2 606552 MedlinePlus eMedicineSubj neuro eMedicineTopic 556 MeshID Episodic ataxia EA is an autosomal dominant disorder characterized by sporadic bouts of ataxia severe discoordination with or without myokymia continuous muscle movement . Ataxia can be provoked by stress, startle, or heavy exertion such as exercise. Symptoms can first appear in infancy. There are at least 6 loci for EA, of which 4 are known genes. Some patients with EA also have migraine or progressive cerebellar degenerative disorders, symptomatic of either familial hemiplegic migraine or spinocerebellar ataxia . Some patients respond to acetazolamide though others do not. Signs Symptoms Typically, episodic ataxia presents as bouts of ataxia induced by startle, stress, or exertion. Some patients also have continuous tremors of various motor groups, known as myokymia . Other patients have pathologic nystagmus nystagmus , vertigo medical vertigo , tinnitus , diplopia or seizure s. Cause The various symptoms of EA are caused by dysfunction of differing areas. Ataxia, the most common symptom, is due to misfiring of Purkinje cell s in the cerebellum . This is either due to direct malfunction of these cells, such as in EA2, or improper regulation of these cells, such as in EA1. Seizures are likely due to altered firing of hippocampus hippocampal neurons KCNA1 null mice have seizures for this reason . Pathophysiology EA1 KCNA1 Image EA1.png thumb right Figure 1. Schematic structure of K sub V sub 1.1 with the episodic ataxia type 1 mutations noted in red. Type 1 episodic ataxia EA1 is characterized by attacks of generalized ataxia induced by emotion or stress, with myokymia both during and between attacks. This disorder is also known as episodic ataxia with myokymia EAM , hereditary paroxysmal ataxia with neuromyotonia and Isaacs Mertens syndrome. Onset of EA1 occurs during early ch ... more details
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