Infobox disease Name Myotonia Image Caption DiseasesDB 23079 ICD10 ICD10 G 71 1 g 70 ICD9 ICD9 359.2 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D009222 Myotonia is a symptom of a small handful of certain neuromuscular disorders characterized by the slow relaxation of the muscles after voluntary contraction or electrical stimulation. Generally, repeated effort is needed to relax the muscles, and the condition improves after the muscles have warmed up. However, prolonged, rigorous exercise may also trigger the condition. Individuals with the disorder may have trouble releasing their grip on objects or may have difficulty rising from a sitting position and a stiff, awkward gait. Myotonia can affect all muscle groups however, the pattern of affected muscles can vary depending on the specific disorder involved. People suffering from disorders involving myotonia can have a life threatening reaction to certain anaesthetics one of these conditions occurs when the patient is under anaesthetic and is termed Malignant hyperthermia . Causes It may be acquired and or inherited, and is caused by an abnormality in the muscle membrane specifically, the ion channels that controls the contraction of muscle fibers. Myosin is defective in myotonia. Myotonia is a symptom commonly seen in patients ... in the muscle membrane , such as Myotonia Congenita Congenital Myotonia of which two types called Becker .... Myotonia arises from channelopathies, and myotonic muscular dystrophy can be exacerbated by exposure ..., especially after long periods of inactivity sudden surprises and stressful situations. Symptoms of myotonia are more frequently experienced in women during pregnancy. Myotonia is not always a disease ... myotonia when placed in situations of extreme stress or fear a resultant increase in fight or flight ... also Myotonia congenita Potassium aggravated myotonia Myotonic dystrophy Fainting goat External links NINDS myotonia http www.myotonic.org Myotonic Dystrophy Foundation Diseases of myoneural junction ... more details
Cleanup date May 2009 Citations missing date May 2009 Infobox Disease Name Myotonia congenita Image Caption ... eMedicineTopic MeshID D009224 Congenital myotonia also myotonia congenita is a genetic, neuromuscular ... myotonia and muscular rigidity rigidity . The disorder is caused by mutations in the part of an ion ... include delayed relaxation of the muscles after voluntary contraction myotonia , and may also include ... up effect . The warm up effect often diminishes quickly with rest. The two major types of myotonia congenita are known as Thomsen disease and Becker type myotonia congenita , the latter sometimes being called generalized myotonia congenita . These diseases are distinguished by the severity ... than Thomsen disease and causes more severe myotonia, muscle stiffness and pain. People with Becker ..., as more and more of the individual mutations that cause myotonia congenita are identified, these limited ... cause the disorder, each with their own specifics, and also because myotonia congenita is an ion channel ... epinephrine is well known to make myotonia worse in most individuals with the disorder, and a person with myotonia congenita may experience a sudden increase in difficulty with mobility in a particularly ..., the fact that those with myotonia congenita often appear very fit and able bodied, general ... themselves, and the potential for inconsistency with the symptoms, many people with myotonia ... of their disorder. Some form of myotonia congenita is estimated to affect 1 in 100,000 people ... Abdominal muscle weakness Chronic joint problems Cause Myotonia congenita is most commonly caused by mutations .... In people with myotonia congenita, the chloride channel is defective and the open gate probability ... surface. The result is prolonged muscle contractions, which are the hallmark of myotonia. The two forms of myotonia congenita caused by CLCN1 mutations have different patterns of inheritance. Thomsen ... in each cell is sufficient to cause the disorder. In most cases of Thomsen Myotonia Congenita, an affected ... more details
Infobox disease Name Potassium aggravated myotonia Image Alt Caption DiseasesDB ICD10 ICD9 ICDO OMIM 608390 MedlinePlus eMedicineSubj eMedicineTopic MeshID Potassium aggravated myotonia is a rare genetic disorder that affects skeletal muscle . Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing myotonia that prevent muscles from relaxing normally. Myotonia causes muscle stiffness, often painful, that worsens after exercise and may be aggravated by eating potassium rich foods such as banana s and potato es. Stiffness occurs in skeletal muscles throughout the body. Potassium aggravated myotonia ranges in severity from mild episodes of muscle stiffness to severe, disabling disease with frequent attacks. Potassium aggravated myotonia may, in some cases, also cause paradoxical myotonia, in which myotonia becomes more severe at the time of movement instead of after movement has ceased. Unlike some other forms of myotonia , potassium aggravated myotonia is not associated with episodes of muscle weakness. Mutations in the SCN4A gene cause potassium aggravated myotonia. The SCN4A gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles contract and relax in a coordinated way. Muscle contractions are triggered by the flow of positively charged ions, including sodium , into skeletal muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells. Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels cannot properly regulate ion flow, increasing the movement of sodium ions into skeletal muscle cells. The influx of extra sodium ions triggers prolonged muscle contractions, which are the hallmark of myotonia. Potassium aggravated myotonia ... myotonia Channelopathy Category Channelopathy Category Musculoskeletal disorders ... more details
Summary I, User dpryan, am the author of this picture. It is based off of model created by Cannon et al. 1994 and meant to reproduce their results approximately . This version of the image incorporates T tubules. The top image is the wild type image and the bottom the myotonia example. The stimulation protocol was as follows hold at 12pA for 5ms, 45pA for 150ms, 12pA for the remainder. The portion of inactivating channels in the myotonia example is 0.02. This was coded in Fortran , feel free to drop me an email if you d like the code. Licensing self2 GFDL with disclaimers cc by 2.5 migration relicense Copy to Wikimedia Commons bot Fbot priority true ... more details
Merge Myotonia congenita date April 2009 Infobox Disease Name Thomsen disease Image Caption DiseasesDB 8736 ICD10 ICD10 G 71 1 g 70 ICD9 ICD9 359.2 ICDO OMIM 160800 MedlinePlus eMedicineSubj eMedicineTopic MeshID D009224 Thomsen disease , a form of Myotonia congenita , is a muscular genetic disorder characterized by muscle stiffness cramp and an inability of the muscle to relax after a voluntary contraction. The affected muscle functions normally after a few repetitions. Causes It is associated with mutations in the chloride channel gene CLCN1 . Presentation The disorder only affects Skeletal muscle voluntary muscles , so smooth muscle involuntary muscles such as the heart or muscles involved in the digestion process are not affected. Treatment and prognosis There is no known cure but some drugs may relieve symptoms. These include Dilantin , Procainamide , Phenytoin and Mexiletine . The disease is not fatal but when the muscles tighten up, the person with MC can fall. What they fall on will determine the outcome of the fall. History Julius Thomsen, a Danish physician, was the first to describe the disease, citing symptoms of his own family members. External links WhoNamedIt synd 3554 Diseases of myoneural junction and muscle Channelopathy Category Channelopathy Category Myoneural junction and neuromuscular diseases Genetic disorder stub de Myotonia congenita Thomsen it Malattia di Thomsen pl choroba Thomsena ... more details
Dystrophy is any condition of abnormal development, often denoting the degeneration of muscles. Types Muscular dystrophy Duchenne muscular dystrophy Becker s muscular dystrophy Reflex neurovascular dystrophy Retinopathy Retinal dystrophy Conal dystrophy Myotonic dystrophy Corneal dystrophy human Corneal dystrophies See also Muscle weakness Muscle atrophy Myotonia Disambig Category Diseases and disorders de Dystrophie fr Dystrophie it Distrofia pl Dystrofia ru sk Dystrofia ar ... more details
cause two forms of inherited human muscle disorders recessive generalized myotonia congenita Becker and dominant myotonia Thomsen . ref name entrez cite web title Entrez Gene CLCN1 chloride channel 1 ..., Jentsch TJ title The skeletal muscle chloride channel in dominant and recessive human myotonia journal ... ref Mutations in this protein cause congenital myotonia . CLCN1 is critical for the normal ... electrical charge, enabling muscles to contract normally. In people with congenital myotonia due ... ions causes prolonged muscle contractions, which are the hallmark of myotonia. See also Chloride ... myotonia c GeneReviews NCBI NIH UW entry on Myotonia Congenita MeshName CLCN1 protein, human References ... doi 10.1046 j.1523 1755.2000.00915.x cite journal author Pusch M title Myotonia caused by mutations ... in myotonia congenita. journal Muscle Nerve volume 32 issue 1 pages 19 34 year 2005 pmid .... cite journal author Lehmann Horn F, Mail nder V, Heine R, George AL title Myotonia levior is a chloride ... chloride channel gene in patients with myotonia congenita journal Hum. Mol. Genet. volume ... 1 and analysis of novel mutations leading to Becker type myotonia journal Hum. Mol. Genet. volume 3 ... myotonia congenita Becker by detection of a 4 base pair deletion journal Hum. Mol. Genet. volume ... autosomal dominant myotonia congenita journal Nat. Genet. volume 3 issue 4 pages 305 10 year 1995 ... K title Multimeric structure of ClC 1 chloride channel revealed by mutations in dominant myotonia ... recessive generalised myotonia Becker journal J. Med. Genet. volume 30 issue 11 pages 914 7 year 1994 ... human skeletal muscle chloride channel gene CLCN1 leading to myotonia journal Am. J. Hum ... MC, Jentsch TJ title Mutations in dominant human myotonia congenita drastically alter the voltage dependence ... in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel ... more details
, which is called myotonia congenita. This is a condition which occurs in many species, including ... because of their myotonia. They remain fully conscious. ref cite web url http goat link.com content ... as larger meat goat breeds. This is due in part to their smaller size and also because of the myotonia ... medication. Smaller specimens of fainting goats are frequently kept as pets. Besides the myotonia .... Molecular basis for myotonia in the goats Although extensive research has been done on these goats .... The idea that they have myotonia congenita has seemed to be accurate but all research has been deemed ... Sponenberg, an authority on myotonia congenita and Tennessee fainting goats, myotonia has been ... that is based mostly on head and body conformation. They also have a muscle condition called myotonia ... more details
by paradoxical myotonia . ref name Eulenburg 1886 Eulenburg A 1886 ber eine famili re durch 6 Generationen ... of myotonia has been termed paradoxical because it becomes worse with exercise whereas classical myotonia, as seen in myotonia congenita , is alleviated by exercise. PC is also distinguished as it can ... the first decade of life and has 100 penetrance. Patients with this disorder commonly present with myotonia .... This muscle stiffness cannot be walked off, in contrast to myotonia congenita . These symptoms ... induces symptoms of myotonia and or weakness. Typical presentations of this are during squating or repetitive ... and case history. Myotonia must increase with exercise movement and usually must worsen in cold temperatures .... Electromyography may be used to distinguish between paramyotonia congenita and myotonia congenita ... paramyotonia congenita and myotonia congenita by electromyography. journal Muscle Nerve volume 6 issue ... first9 Victor ref Clinicians may also attempt to provoke episodes or myotonia and weakness paralysis ... , or one of the potassium aggravated myotonia s. Genomic sequencing of the SCN4A gene is the definitive ... paralysis and the potassium aggravated myotonia s is caused by mutations in a sodium channel , SCN4A ... to a general increase in cellular excitability, as shown in figure 1. Image Myotonia figure.png ... Cannon S, Brown R, Corey D title Theoretical reconstruction of myotonia and paralysis caused by incomplete ... Mutation rowspan 2 Region colspan 3 Myotonia colspan 3 Weakness rowspan 2 References valign bottom Cold ... R, Santiago F title Sodium channel mutations in acetazolamide responsive myotonia congenita, paramyotonia ... M title Human sodium channel myotonia slowed channel inactivation due to substitutions for a glycine ... 1993 cite journal author Heine R, Pika U, Lehmann Horn F title A novel SCN4A mutation causing myotonia ... skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation journal ... br Also diagnosed as a Potassium aggravated myotonia br Original case reports unpublished. br When ... more details
periodic paralysis , paramyotonia congenita , and potassium aggravated myotonia . Function ... in this gene have been linked to several myotonia and periodic paralysis disorders. ref name ... Rott Myotonia The same types of mutations cause myotonia and paralysis, however the difference between ... normal myotonia but will relax and be able to contract again within a short period. If the conductance ... author Ptacek LJ title Linkage of atypical myotonia congenita to a sodium channel locus journal Neurology ... responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis journal ... R, Pika U, Lehmann Horn F title A novel SCN4A mutation causing myotonia aggravated by cold and potassium ... 2.9.1349 cite journal author Lerche H title Human sodium channel myotonia slowed channel inactivation ... more details
in the previous North American study. Myotonia congenita Myotonia congenita is a genetic muscle disorder. The two main types of myotonia congenita are Thomsen disease , which begins in infancy, and Becker disease sometimes called generalized myotonia , which usually begins between the ages four ... more details
SignSymptom infobox Name Facies medical Image Caption DiseasesDB 18724 ICD10 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID In medical contexts, facies are distinctive facial expressions associated with specific medical condition s. It comes from the Latin word for face . ref name urlDorlands Medical Dictionary facies cite web url http www.mercksource.com pp us cns cns hl dorlands split.jsp?pg ppdocs us common dorlands dorland three 000038177.htm title Dorlands Medical Dictionary facies work accessdate ref As a Latin declension Fifth declension .28e.29 fifth declension noun, ref name urlNOUNS OF THE FOURTH DECLENSION cite web url http webpages.ursinus.edu classics latin nouns fourthfifthdecl forms.htm title NOUNS OF THE FOURTH DECLENSION work accessdate ref facies can refer to the singular or plural. Types Examples include Hippocratic face also known as Hippocratic facies eyes are sunken, temples collapsed, nose is pinched with crusts on the lips and the forehead is clammy moon face also known as Cushingoid facies elfin facies Williams syndrome Potter facies oligohydramnios mask like facies parkinsonism Leonine facies lepromatous leprosy Mitral facies mitral stenosis Amiodarone facies deep blue discoloration around malar area and nose Acromegalic facies acromegaly mongoloid facies down s syndrome Marfanoid facies marfan s syndrome snarling facies myasthenia gravis Myotonic facies myotonic dystrophy torpid facies myxoedema mouse facies chronic renal failure plethoric facies cushing s syndrome and polycythemia vera bird like facies Pierre Robin syndrome pierre robin sequence ashen grey facies myocardial infarction gargoyle facies hurler s syndrome monkey facies marasmus hatchet facies myotonia atrophica gorilla like face acromegaly bovine facies or cow face craniofacial dysostosis or crouzons syndrome marshall halls facies hydrocephalus frog face intra nasal disease References reflist External links wikt facies Category Medical signs medicine stub ... more details
by form DM1 DM2 , severity and even unusual DM2 phenotypes. DM1 patients often present with myotonia ... that may relieve some of the symptoms such as myotonia , pain, and excessive sleepiness ... Reviews for symptoms such as hypersomnia excessive daytime sleepiness , myotonia, strength training ... channelopathy and myotonia in mouse models of myotonic dystrophy journal J. Clin. Invest. volume 117 ... more details
Wiktionarypar pam Pam or PAM may refer to TOC right Companies PAM Transport , trucking company in Arkansas Pittsburgh, Allegheny and McKees Rocks Railroad in Pennsylvania, U.S. Organisations Agrarian Party of Moldova , or Partidul Agrar din Moldova Authenticity and Modernity Party , or Parti Authenticit et Modernit , a political party in Morocco People s Action Movement , a political party in Saint Kitts and Nevis Pomeranian Medical University , or in Polish Pomorska Akademia Medyczna w Szczecinie Portland Art Museum in Portland, Oregon World Food Programme , also known as Programme alimentaire mondial Military Tyndall Air Force Base , Panama City, Florida, United States, or PAM by the International Air Transport Association airport code Permanent Active Militia Canada Policy Analysis Market , an aborted DARPA program Precision Attack Munition , an artillery missile currently under development People Pamela name , abbreviated form Henry John Temple, 3rd Viscount Palmerston , nicknamed Pam Avraham Yaakov Pam , rosh yeshiva Science and technology Pancreatic acinar metaplasia , in gastroenterology Partitioning Around Medoids , a data clustering algorithm Payload Assist Module , a small rocket engine, also referred to as a PAM D Peptidylglycine alpha amidating monooxygenase , a human gene Perpetual art machine Photoacoustic Microscopy, a type of Photoacoustic imaging in biomedicine Photoacoustic microscopy PAM Photoacoustic imaging in biomedicine Pneumatic artificial muscles Point accepted mutation , a type of similarity matrix in Computational Biology Positive allosteric modulator , in pharmacology Posterior auricular muscle Potassium aggravated myotonia , a genetic disorder Primary amoebic meningoencephalitis Pulse amplitude modulation , a characteristic of pulsed signals pralidoxime , or Pyridine aldoximine methiodide an acetylcholinesterase inhibitor Polyacrylamide Computing Pluggable Authentication Modules , Unix authentication framework also known as X Open Sing ... more details
File Max Bielschowsky.jpg right thumb Max Bielschowsky 1869 1940 Max Bielschowsky February 19, 1869 August 15, 1940 was a German neuropathologist born in Breslau . After receiving his medical doctorate from the University of Munich in 1893, he worked with Ludwig Edinger 1855 1918 at the Senckenberg Museum Senckenberg Pathology Institute in Frankfurt am Main . At Senckenberg he learned histology histological staining techniques from Carl Weigert 1845 1904 . From 1896 to 1904 he worked in Emanuel Mendel s 1839 1907 psychiatric laboratory in Berlin . In 1904 he joined Oskar Vogt 1870 1959 at the neurobiology neurobiological laboratory at the University of Berlin , where he remained until 1933. Later in his career he worked at the psychiatric clinic at the University of Utrecht , and at the Cajal Institute in Madrid . ref name Who cite web last Enersen first Ole Daniel authorlink Ole Daniel Enersen title Max Bielschowsky work Who Named It url http www.whonamedit.com doctor.cfm 907.html accessdate 2009 05 31 ref Bielschowsky made important contributions in his research of tuberous sclerosis , amaurosis amaurotic idiocy, paralysis agitans , Huntington s disease Huntington s chorea and myotonia congenita . He is remembered for his histopathology histopathological work with disseminated sclerosis , the use of an histological silver stain for impregnation of nerve fibers, and with Stanley Cobb , the development of intravital ref Cite journal last Cobb first Stanley author link Stanley Cobb last2 Bielschowsky first2 Max author2 link Max Bielschowsky title A method for intra vital staining with silver ammonium oxide solution. journal Journal f r Psychologie und Neurologie volume 31 pages 301 304 year 1925 ref silver staining. The eponymous Bielschowsky silver stain technique was an improvement on the method developed by Ramon y Cajal 1852 1934 . ref name Who Selected written works Die Silberimpr gnation der Achsencylinder Neurologisches Zentralblatt, Leipzig, 1902, 21 579 84. ... 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. Inherited Forms 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 r ... more details
Ponting CP title CBS domains in CIC chloride channels implicated in myotonia and nephrolithiasis .... Mutations in CLCN1 lead to Myotonia OMIM3 160800 , ref name pmid11933197 cite journal author Pusch M title Myotonia caused by mutations in the muscle chloride channel gene CLCN1 journal Hum. Mutat ... more details
experience degrees of muscle stiffness and spasms myotonia in the affected muscles. This can be caused by the same things that trigger the paralysis, dependent on the type of myotonia. See also paramyotonia ... more details
Multiple issues refimprove February 2008 original research September 2007 Drugbox verifiedrevid 447635449 IUPAC name 2RS 1 4 ethylphenyl 2 methyl 3 1 piperidyl propan 1 one image Eperisone.png Clinical data tradename Drugs.com drugs.com international eperisone pregnancy AU A B1 B2 B3 C D X pregnancy US A B C D X legal AU Unscheduled S2 S3 S4 S8 legal CA Schedule I, II, III, IV, V, VI, VII, VIII legal UK GSL P POM CD Class A, B, C legal US OTC Rx only Schedule I, II, III, IV, V legal status not licensed routes of administration O Identifiers CAS number Ref cascite correct ?? CAS number 56839 43 1 ATC prefix M03 ATC suffix BX09 ChemSpiderID Ref chemspidercite correct chemspider ChemSpiderID 3123 StdInChI Ref stdinchicite correct chemspider StdInChI 1S C17H25NO c1 3 15 7 9 16 10 8 15 17 19 14 2 13 18 11 5 4 6 12 18 h7 10,14H,3 6,11 13H2,1 2H3 StdInChIKey Ref stdinchicite correct chemspider StdInChIKey SQUNAWUMZGQQJD UHFFFAOYSA N PubChem 3236 DrugBank Ref drugbankcite correct drugbank UNII Ref fdacite correct FDA UNII 2M2P0551D3 KEGG Ref keggcite correct kegg KEGG D01671 Chemical data C 17 H 25 N 1 O 1 molecular weight 259.387 g mol Eperisone formulated as the eperisone hydrochloride salt is an antispasmodic drug. Eperisone acts by relaxing both skeletal muscle s and vascular smooth muscle s, and demonstrates a variety of effects such as reduction of myotonia , improvement of Circulatory system circulation , and suppression of the pain reflex. The drug inhibits the vicious cycle of myotonia by decreasing pain, ischaemia , and hypertonia in skeletal muscles, thus alleviating stiffness and spasticity , and facilitating muscle movement ref name Yang cite journal author Yang SI, Park HY, Lee SH, et al. title Transdermal eperisone elicits more potent and longer lasting muscle relaxation than oral eperisone journal Pharmacology volume 71 issue 3 pages 150 6 year 2004 month July pmid 15161997 doi 10.1159 000077449 url ref Eperisone also improves dizziness and tinnitus associat ... more details
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