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thomsen disease - rare muscle disease with inability to relax muscles Definition for Thomsen disease 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. more 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. less some common symptoms fatigue muscle cramps in leg(s) muscle weakness in leg(s) weakness some related diagnoses 1 - 7 of 81 diagnoses sciatica multiple sclerosis systemic lupus erythematosis diabetic neuropathy limb girdle muscular dystrophies peripheral neuropathy polymyalgia rheumatica   more do i have 'Thomsen disease'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'thomsen disease' 1 - 4 of 4 diagnostic tests Electromyogram (EMG) Thomsen disease and Electromyogram (EMG) Muscle biopsy Thomsen disease and Muscle biopsy Molecular Genetic Studies Thomsen disease and Molecular Genetic Studies Developmental testing Thomsen disease and Developmental testing therapeutic procedures for 'Thomsen disease'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Thomsen disease: therapeutic procedure search results for 'thomsen disease' rankings are computer generated. please consult your health care provider. medications search results for 'thomsen disease' 1 - 4 of 4 medications rankings are computer generated. please consult your health care provider.   Phenytoin Thomsen disease and Phenytoin   Mexiletine Thomsen disease and Mexiletine   quinine Thomsen disease and quinine   Procainamide Thomsen disease and Procainamide web search results for thomsen disease Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - Thomsen disease Thomsen disease - Wikipedia, the free encyclopedia Thomsen disease. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... Thomsen disease, a form of Myotonia congenita, is a muscular genetic disorder ... http://en.wikipedia.org/wiki/Thomsen_disease   en.wikipedia.org - summary CLCN1 - chloride channel 1, skeletal muscle (Thomsen disease, autosomal ... ... autosomal dominant form of myotonia congenita, which is known as Thomsen disease. ... the CLCN1 mutations responsible for Thomsen disease change one of the two ... http://ghr.nlm.nih.gov/gene=clcn1   ghr.nlm.nih.gov - summary THOMSEN'S DISEASE (MYOTONIA CONGENITA) - Pedbase.org 1. Autosomal Dominant (Thomsen's Disease) ... Thomsen's Disease is the less severe form with later age of onset and nonprogressive nature ... http://pedbase.org/t/thomsens-disease_myotonia-congenita/   pedbase.org - summary Talk:Thomsen disease - Wikipedia, the free encyclopedia Talk:Thomsen disease. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... edit · history · watch · refresh To-do list for Thomsen disease: ... http://en.wikipedia.org/wiki/Talk:Thomsen_disease   en.wikipedia.org - summary Myotonia Congenita -- GeneReviews -- NCBI Bookshelf ... manner (Thomsen disease); the same mutation may occur in families with both ... Autosomal dominant myotonia congenita is also known as Thomsen disease. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=myotonia-c   www.ncbi.nlm.nih.gov - summary Myotonia congenita - Genetics Home Reference This muscle weakness is not seen in people with Thomsen disease. ... Thomsen disease is inherited in an autosomal dominant pattern, which means one ... http://ghr.nlm.nih.gov/condition=myotoniacongenita   ghr.nlm.nih.gov - summary Myotonia congenita Thomsen's disease. Causes. Myotonia congenita is caused by a change (mutation) to a gene. ... close-up Peripheral artery disease Bloody or tarry stools Blood ... http://adam.about.com/encyclopedia/infectiousdiseases/Myotonia-congenita.htm   adam.about.com - summary Myotonia Congenita Information Page: National Institute of Neurological ... Myotonia congenita information sheet compiled by the National Institute of ... is the most common form; and Thomsen's disease, which is a rare and milder form. ... http://www.ninds.nih.gov/disorders/myotoniacongenita/myotoniacongenita.htm   www.ninds.nih.gov - summary Myotonia Congenita Autosomal dominant myotonia congenita is also known as Thomsen disease. ... autosomal dominant manner (Thomsen disease). A clear distinction can be difficult because ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary MedlinePlus Medical Encyclopedia: Myotonia congenita Thomsen's disease. Definition Return to top. Myotonia congenita is an inherited condition that affects muscle relaxation. ... http://www.nlm.nih.gov/medlineplus/ency/article/001424.htm   www.nlm.nih.gov - summary Myopathy - Wikipedia, the free encyclopedia ... of myoneural junction and muscle / neuromuscular disease (G70-G73, 358-359) ... · Myotonia congenita · Thomsen disease · Neuromyotonia · Paramyotonia congenita ... http://en.wikipedia.org/wiki/Muscular_disease   en.wikipedia.org - summary Statins Reduced Death Risk From Pneumonia - Infectious Diseases: Causes ... Get the facts on infectious disease types, causes, prevention, and treatment, ... Thomsen and his colleagues reviewed data on 29,900 adults hospitalized with ... http://www.medicinenet.com/script/main/art.asp?articlekey=93756   www.medicinenet.com - summary Myotonia Congenita The disease doesn't cause muscle wasting; in fact, it may cause muscle ... is the most common form; and Thomsen's disease, which is a rare and milder form. ... http://www.ninds.nih.gov/disorders/myotoniacongenita/xml_myotoniacongenita.xml   www.ninds.nih.gov - summary System process - Gene Category - Genetics Home Reference ... 1, skeletal muscle (Thomsen disease, autosomal dominant) ... disease ... 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) ... http://ghr.nlm.nih.gov/GenesByCategory/GO_0008150,GO_0032501,GO_0003008   ghr.nlm.nih.gov - summary Dejerine Sottas syndrome - Wikipedia, the free encyclopedia ... Tooth type 4F disease caused by S399fsx410 ... Cranial nerve disease ... · Myotonia congenita · Thomsen disease · Neuromyotonia · Paramyotonia congenita ... http://en.wikipedia.org/wiki/Dejerine-Sottas_disease   en.wikipedia.org - summary Myotonia levior is a chloride channel disorder. Dominant myotonia congenita (Thomsen's disease) is linked to CLCN1, the gene ... onset of myotonia than in Thomsen's disease, and absence of muscle hypertrophy. ... http://www.ncbi.nlm.nih.gov/pubmed/7581380   www.ncbi.nlm.nih.gov - summary Myotonia congenita - Related Gene(s) - Genetics Home Reference CLCN1: chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) ... Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/condition=myotoniacongenita/show/Related+Gene(s)   ghr.nlm.nih.gov - summary Neuromuscular disease - Wikipedia, the free encyclopedia Endocrine disease · Nutrition disorder · Inborn error of metabolism (F, 290-319) ... · Myotonia congenita · Thomsen disease · Neuromyotonia · Paramyotonia congenita ... http://en.wikipedia.org/wiki/Neuromuscular_disease   en.wikipedia.org - summary Disease Reference Thomsen's disease. Thoracic aortic aneurysm. Thoracic outlet syndrome. Threatened miscarriage ... I glycogen storage disease. Type I hyperlipoproteinemia. Type ... http://adam.about.com/HIE/diseidxt.htm   adam.about.com - summary Studies Seek Patients: Clinical Trials Across the U.S. and Canada ... Index page of NINDS Clinical Trials at Bethesda, Maryland. ... You are here: Home " Disorders A - Z " ... Select Disease or Condition of Interest. You can also ... http://www.ninds.nih.gov/disorders/clinicaltrials_us.htm   www.ninds.nih.gov - summary Index: TH: Merck Manual Home Edition Thomsen's disease (myotonia congenita) Other Forms of Muscular Dystrophy: Myotonic Myopathies ... Multiple Endocrine Neoplasia Syndromes: Type 2A Disease ... http://www.merck.com/mmhe/index/ind_th.html   www.merck.com - summary www.nextbio.com/b/sitemap/sitemap.nb?q=disease/a-z/t.nb Third degree burn of - Thomsen myotonia con. Thomsen's disease - Thoracic outlet synd ... Typhus group rickett - Tzaneen disease ... http://www.nextbio.com/b/sitemap/sitemap.nb?q=disease/a-z/t.nb   www.nextbio.com - summary Refsum's disease - Wikipedia, the free encyclopedia Cranial nerve disease ... junction disease. autoimmune (Myasthenia gravis, ... · Myotonia congenita · Thomsen disease · Neuromyotonia · Paramyotonia congenita ... http://en.wikipedia.org/wiki/Refsum's_disease   en.wikipedia.org - summary Mutations in the human skeletal muscle chloride channel gene (CLCN1 ... ... (Thomsen's disease) and autosomal recessive myotonia congenita ... transient weakness is seen in patients with Becker's, but not Thomsen's disease. ... http://www.ncbi.nlm.nih.gov/pubmed/8857733   www.ncbi.nlm.nih.gov - summary Myotonia congenita Myotonia congenita is an inheritable congenital (present from birth) disorder characterized by slow relaxation of voluntary ... Thomsen's disease. Prevention: ... http://adam.about.com/encyclopedia/001424prv.htm   adam.about.com - summary Chromosome 7 - Genes on chromosome 7 - Genetics Home Reference CLCN1: chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) ... NCF1: neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1) ... http://ghr.nlm.nih.gov/chromosome=7/show/Genes   ghr.nlm.nih.gov - summary Orphanet: Thomsen and Becker disease The portal for rare diseases and orphan drugs ... Thomsen and Becker disease. Orpha number. ORPHA614. Prevalence of rare diseases. 1-9 / 100 000 ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=614   www.orpha.net - summary Pedbase.org - The Pediatric Database Asthma , Anemia, ADHD, Allergic Disease, ASD, Achondroplasia. A ... Febrile Seizure, Graves' Disease,Galactosemias, Fanconi Anemia. F-G. F. G ... http://pedbase.org/index.html   pedbase.org - summary Disease Reference Thomsen's disease. Thoracic aortic aneurysm. Thoracic outlet syndrome. Threadworm ... Type I glycogen storage disease. Type I hyperlipoproteinemia. Type I RTA ... http://adam.about.com/encyclopedia/diseidxt.htm   adam.about.com - summary Myotonia Congenita Publications: National Institute of Neurological ... Myotonia congenita information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS) ... Sorry, there are no other publications ... http://www.ninds.nih.gov/disorders/myotoniacongenita/pubs_my...   www.ninds.nih.gov - summary Multimeric structure of ClC-1 chloride channel revealed by mutations in ... ... Thomsen's disease), including a newly identified mutation (P480L) in Thomsen's own family. ... expression assay, Thomsen's mutation dramatically inhibits ... http://www.ncbi.nlm.nih.gov/pubmed/8112288   www.ncbi.nlm.nih.gov - summary CLCN1 - Educational resources - Information pages - Genetics Home Reference ... in the ClC1 muscle Cl- channel produce human disease ... Neuromuscular Disease Center, Washington University: Thomsen Disease. Reviewed: April 2007 ... http://ghr.nlm.nih.gov/gene=clcn1/show/Educational+resources   ghr.nlm.nih.gov - summary Substrate-specific transporter activity - Gene Category - Genetics Home ... CLCN1: chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) ... NPC1: Niemann-Pick disease, type C1. OCA2: oculocutaneous albinism II ... http://ghr.nlm.nih.gov/ghr/genesByCategory/show/GO_0003674,GO_0005215,GO_0022892   ghr.nlm.nih.gov - summary MedlinePlus Medical Encyclopedia: Topics beginning with T-Tn Thomsen's disease see Myotonia congenita. Thoracentesis. Thoracic aortic aneurysm. Thoracic CT ... Tibia vara see Blount's disease. Tibial nerve dysfunction ... http://www.nlm.nih.gov/medlineplus/ency/encyclopedia_T-Tn.htm   www.nlm.nih.gov - summary Health Library - Avera Health Thomsen's disease. Thoracic aortic aneurysm. Thoracic outlet syndrome. Threadworm ... Type I glycogen storage disease. Type I hyperlipoproteinemia. Type I RTA ... http://averaorg.adam.com/content.aspx?productId=101&alpha=T&sub=Disease   averaorg.adam.com - summary Myotonia Congenita - Yahoo! Health In individuals with Thomsen disease, symptoms and findings such as myotonia, ... Thomsen disease is transmitted as an autosomal dominant trait. ... http://health.yahoo.com/other-other/myotonia-congenita/healthwise--nord372.html   health.yahoo.com - summary Intrinsic to membrane - Gene Category - Genetics Home Reference CLCN1: chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) ... prosaposin (variant Gaucher disease and variant metachromatic ... http://ghr.nlm.nih.gov/ghr/genesByCategory/show/GO_0005575,G...   ghr.nlm.nih.gov - summary List of eponymous diseases - Wikipedia, the free encyclopedia Albright-Butler-Bloomberg disease ? Fuller Albright, Allan Macy Butler, Esther Bloomberg ... Thomsen's disease. Tietze's syndrome ... http://en.wikipedia.org/wiki/List_of_eponymous_diseases   en.wikipedia.org - summary Myotonia Congenita Organizations: National Institute of Neurological ... Myotonia congenita information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS) ... Tel: 203-744-0100 Voice Mail 800-999 ... http://www.ninds.nih.gov/disorders/myotoniacongenita/org_myotoniacongenita.htm   www.ninds.nih.gov - summary The skeletal muscle chloride channel in dominant and recessive human ... ... (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease) (MC) are characterized by skeletal muscle stiffness that is a result of ... http://www.ncbi.nlm.nih.gov/pubmed/1379744   www.ncbi.nlm.nih.gov - summary Myotonia Congenita Press Releases: National Institute of Neurological ... Myotonia congenita information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS) ... Sorry, there are no press releases for ... http://www.ninds.nih.gov/disorders/myotoniacongenita/press_myotoniacongenita.htm   www.ninds.nih.gov - summary Other Forms of Muscular Dystrophy: Muscular Dystrophies and Related ... Steinert's disease ... Some people with the disease also develop a footdrop ... Myotonia congenita (Thomsen's disease) is a rare autosomal dominant disorder ... http://www.merck.com/mmhe/sec05/ch073/ch073c.html   www.merck.com - summary Plasma membrane part - Gene Category - Genetics Home Reference CLCN1: chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) ... PKD1: polycystic kidney disease 1 (autosomal dominant) ... http://ghr.nlm.nih.gov/GenesByCategory/GO_0005575,GO_0044464...   ghr.nlm.nih.gov - summary Novel muscle chloride channel mutations and their effects on ... Mailänder V, Heine R, Deymeer F, Lehmann-Horn F. ... muscle chloride channel, cause either dominant Thomsen disease or recessive ... http://www.ncbi.nlm.nih.gov/pubmed/8571958   www.ncbi.nlm.nih.gov - summary Search Results - Genetics Home Reference CLCN1: chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) Gene summary ... form of the disorder, which is known as Becker disease. ... http://ghr.nlm.nih.gov/ghr/search?query=Duchenne+Muscular+Dystrophy   ghr.nlm.nih.gov - summary Loyola University Health System myLoyola provides you a customized interaction with Loyola University Health System based on age group, ... Thomsen's disease. Thoracentesis. Thoracic ... http://loyolauniversity.adam.com/content.aspx?productId=101&gid=200000&alpha=T   loyolauniversity.adam.com - summary Sequence Retrieval System (SRS) insert the description to be displayed by the search engine. Also searched by ... Thomsen's disease), which are characterized by skeletal muscle stiffness as a ... http://www.ncbi.nlm.nih.gov/Class/NAWBIS/Modules/Protein/protein11.html   www.ncbi.nlm.nih.gov - summary Plasma membrane - Gene Category - Genetics Home Reference CLCN1: chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) ... PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive) ... http://ghr.nlm.nih.gov/ghr/genesByCategory/show/GO_0005575,G...   ghr.nlm.nih.gov - summary Chloride channel protein (CLC-1) mRNA, 3' end (CLCN1) Human protein-coding gene CLCN1. Represented by 2 ESTs from 2 cDNA libraries. ... PREDICTED: chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=121483   www.ncbi.nlm.nih.gov - summary Index: MY: Merck Manual Home Edition Coronary Artery Disease: Causes. dysfunction of ... Myotonia congenita (Thomsen's disease) Other Forms of Muscular Dystrophy: Myotonic Myopathies ... http://www.merck.com/mmhe/index/ind_my.html   www.merck.com - summary show more 1  2