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schwartz-jampel syndrome - rare inherited disorder with inability to relax muscles Definition for Schwartz-Jampel Syndrome http://health.yahoo.com/ency/healthwise/nord1058 some common symptoms face deformities limited arm movements limited leg movements muscle rigidity some related diagnoses 1 - 7 of 177 diagnoses neurofibromatosis type 1 overuse injury tenosynovitis alcoholism psoriasis Factor V Leiden thrombophilia spondylosis   more do i have 'Schwartz-Jampel Syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'schwartz-jampel syndrome' 1 - 5 of 10 diagnostic tests Electromyogram (EMG) Schwartz-Jampel Syndrome and Electromyogram (EMG) Muscle biopsy Schwartz-Jampel Syndrome and Muscle biopsy Serum Aldolase Schwartz-Jampel Syndrome and Serum Aldolase Serum Creatine Kinase (CK) Schwartz-Jampel Syndrome and Serum Creatine Kinase (CK) X-ray spine Schwartz-Jampel Syndrome and X-ray spine X-rays Schwartz-Jampel Syndrome and X-rays Nerve conduction studies (NCS) Schwartz-Jampel Syndrome and Nerve conduction studies (NCS) Molecular Genetic Studies Schwartz-Jampel Syndrome and Molecular Genetic Studies Polymerase Chain Reaction (PCR) Schwartz-Jampel Syndrome and Polymerase Chain Reaction (PCR) Developmental testing Schwartz-Jampel Syndrome and Developmental testing for more please login, login is free (click to login) therapeutic procedures for 'Schwartz-Jampel Syndrome'? 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 Schwartz-Jampel Syndrome: therapeutic procedure search results for 'schwartz-jampel syndrome' 1 - 5 of 7 therapeutic procedures rankings are computer generated. please consult your health care provider. Massage Schwartz-Jampel Syndrome and Massage Levator muscle resection Schwartz-Jampel Syndrome and Levator muscle resection orbicularis oculi myectomy Schwartz-Jampel Syndrome and orbicularis oculi myectomy Active external warming warming of body to maintain normal temperature Schwartz-Jampel Syndrome and Active external warming lateral canthopexy Schwartz-Jampel Syndrome and lateral canthopexy Stretching exercises Schwartz-Jampel Syndrome and Stretching exercises Myectomy Schwartz-Jampel Syndrome and Myectomy for more please login, login is free (click to login) medications search results for 'schwartz-jampel syndrome' 1 - 5 of 7 medications rankings are computer generated. please consult your health care provider.   botulinum toxin type A Schwartz-Jampel Syndrome and botulinum toxin type A   Carbamazepine Schwartz-Jampel Syndrome and Carbamazepine   Phenytoin Schwartz-Jampel Syndrome and Phenytoin   Mexiletine Schwartz-Jampel Syndrome and Mexiletine   Procainamide Schwartz-Jampel Syndrome and Procainamide   Quinidine Schwartz-Jampel Syndrome and Quinidine   Quinine sulfate Schwartz-Jampel Syndrome and Quinine sulfate for more please login, login is free (click to login) web search results for schwartz-jampel syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - Schwartz-Jampel Syndrome The Schwartz-Jampel syndrome. ... Dysmorphol. 1993 Jan;2(1):47-54. The Schwartz-Jampel syndrome. al Gazali LI. ... Three sibs with severe manifestation of Schwartz-Jampel syndrome are described. ... http://www.ncbi.nlm.nih.gov/pubmed/8298738?dopt=Abstract   www.ncbi.nlm.nih.gov - summary Orphanet: Schwartz Jampel syndrome Schwartz-Jampel syndrome. Orpha number. ORPHA800. Prevalence ... Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities. ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=800   www.orpha.net - summary Waardenburg syndrome Waardenburg syndrome is a group of hereditary conditions ... Alport syndrome. Albinism. Schwartz-Jampel Syndrome. Explore Health Topics A-Z. Must Reads ... http://adam.about.com/encyclopedia/001428sym.htm   adam.about.com - summary DVL1 - NextBio DVL1: DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that ... The Schwartz-Jampel syndrome and ... http://www.nextbio.com/b/home/home.nb?q=DVL1   www.nextbio.com - summary medical terms, dictionary and encyclopedia Schwartz-Jampel syndrome. Sciatic nerve. Sciatica. SCID. Science (journal) Science, cognitive ... acute respiratory syndrome. Severe combined immunodeficiency ... http://www.medicinenet.com/htmlalphaidx/dict_S.htm   www.medicinenet.com - summary 18647752 2008 10 02 2008 11 12 1460-2083 17 20 2008 Oct 15 Hum. Mol ... ... in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. 3166-79 Schwartz-Jampel syndrome (SJS) is a recessive neuromyotonia with ... http://www.ncbi.nlm.nih.gov/pubmed/18647752?ordinalpos=1&ito...   www.ncbi.nlm.nih.gov - summary Schwartz Jampel Syndrome - Yahoo! Health Important It is possible that the main title of the report Schwartz Jampel Syndrome is not the name you expected. Please check the synonyms listing to find the ... http://health.yahoo.com/ency/healthwise/nord1058   health.yahoo.com - summary WebMD Health A-Z - Find reliable health and medical information on ... Find a comprehensive index of trusted health and medical information. It is ... Schwartz Jampel Syndrome. Schwartz-Jampel-Aberfeld Syndrome. Sciatica. SCID ... http://www.webmd.com/a-to-z-guides/health-topics/sa-se.htm   www.webmd.com - summary ZC101.2 - NextBio hide studies that are not seeking new volunteers ... Schwartz-Jampel syndrome. Benzthiazide. Placenta. Thanatophoric dysplasia, ... Methylscopolamine ... http://www.nextbio.com/b/home/home.nb?id=886870&type=feature   www.nextbio.com - summary NLM Classification Index S ... Severe Acute Respiratory Syndrome. SARS-Associated Coronavirus ... Schwartz-Jampel Syndrome see Osteochondrodysplasias. Sciatic Nerve WL 400. See also Sciatica ... http://www.nlm.nih.gov/class/index_s.html   www.nlm.nih.gov - summary OMIM Update List for November, 2000 210900 BLOOM SYNDROME; BLM. 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 ... ATAXIA-OCULOMOTOR APRAXIA SYNDROME. 210370 BIETTI CRYSTALLINE CORNEORETINAL ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.2000   www.ncbi.nlm.nih.gov - summary Microcornea-Cataract syndrome ... Thompson syndrome, Warburgs Micro syndrome, Schwartz-Jampel syndrome, WAGR ... Microcornea-cataract syndrome is an anterior eye dystrophy characterized by the ... http://www.orpha.net/data/patho/GB/uk-MC.html   www.orpha.net - summary HSPG2 - NextBio HSPG2: Heparan sulfate proteoglycan is a major component of basement membranes, where the molecule may be ... Schwartz-Jampel syndrome. Benzthiazide ... http://www.nextbio.com/b/home/home.nb?q=HSPG2   www.nextbio.com - summary MIM Gene map Schwartz-Jampel syndrome, type 1, 255800 (3); Dyssegmental dysplasia,Silverman ... fused with ETV6 in myelodysplastic syndrome. A. 1p36.1. NR0B2, SHP ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l255800   www.ncbi.nlm.nih.gov - summary Encyclopedia S-Sz on Yahoo! Health Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, incidence, ... Schwartz Jampel Syndrome. Sciatica ... http://health.yahoo.com/ency/s/   health.yahoo.com - summary HSPG2(PLC) - NextBio PLC: Heparan sulfate proteoglycan is a major component of basement membranes, where the molecule may be ... Schwartz-Jampel syndrome. Benzthiazide ... http://www.nextbio.com/b/home/home.nb?q=PLC   www.nextbio.com - summary The human CDC42 gene: genomic organization, evidence for the existence ... Schwartz-Jampel syndrome (SJS) is an autosomal recessive human disorder ... Syndrome. cdc42 GTP-Binding Protein, Saccharomyces cerevisiae. Substances: Cell ... http://www.ncbi.nlm.nih.gov/pubmed/10480361   www.ncbi.nlm.nih.gov - summary Acetylcholinesterase in abnormal human muscle. Fifty human muscle biopsies were examined for histochemical localization of ... peripheral nerve injury, Schwartz-Jampel syndrome and myasthenic syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/1259547   www.ncbi.nlm.nih.gov - summary AceView: gene:DVL1, a comprehensive annotation of human, mouse and worm ... AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering ... The Schwartz-Jampel syndrome and ... http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=DVL1   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2006 ... ... 0.51% nanismo 216 0.50% brugada syndrome 175 0.41% síndrome de klinefelter 154 ... danlos 13 0.03% syndrome de gougerot sjogren 13 0.03% xantinuria 12 0.03 ... http://orphanet.orpha.net/stat/orphanet/search_200606.html   orphanet.orpha.net - summary AceView: gene:unc-52A, a comprehensive annotation of human, mouse and ... AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering ... to Schwartz-Jampel syndrome or ... http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=worm&q=unc-52A   www.ncbi.nlm.nih.gov - summary OMIM Update List for October, 2006 249600 MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE ... 606693 KUFOR-RAKEB SYNDROME; KRS ... Clinical Synopsis for 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.2006   www.ncbi.nlm.nih.gov - summary Orphanet: Syndrome de Schwartz Jampel Syndrome de Schwartz-Jampel. Numéro Orphanet. ORPHA800. Prévalence des maladies rares ... Le syndrome de Schwartz-Jampel (SJS) est caractérisé par une myotonie et des ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=800   www.orpha.net - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ... ... klinefelter 39 0.13% sapho syndrome 38 0.12% acondroplasia 38 0.12% cutis laxa ... de cohen 20 0.06% syndrome de marshall 20 0.06% trisomie 18 19 0.06 ... http://orphanet.orpha.net/stat/orphanet/search_200607.html   orphanet.orpha.net - summary Corps Syndrome de Schwartz-Jampel ... SYNDROME DE SCHWARTZ-JAMPEL ... Le syndrome de Schwartz-Jampel est caractérisé par l'association d'un faciès ... http://asso.orpha.net/AFM/PPFETM.html   asso.orpha.net - summary Schwartz-Jampel Syndrome http://author.emedicine.com/neuro/topic337.htm   author.emedicine.com - summary Schwartz-Jampel Syndrome excerpt http://www.emedicine.com/neuro/byname/Schwartz-Jampel-Syndrome.htm   www.emedicine.com - summary OMIM Update List for December, 2006 164280 FEINGOLD SYNDROME ... 178110 PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT ... 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1. 256710 ELEJALDE DISEASE ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.2006   www.ncbi.nlm.nih.gov - summary List of diseases (S) - Wikipedia, the free encyclopedia Sackey Sakati Aur syndrome. Sacral agenesis. Sacral defect anterior sacral meningocele ... Schwartz Newark syndrome. Schwartz-Jampel syndrome. Schwartz-lelek syndrome ... http://en.wikipedia.org/wiki/List_of_diseases_(S)   en.wikipedia.org - summary OMIM Update List for December, 2008 223370 DUBOWITZ SYNDROME ... 611961 STEVENSON-CAREY SYNDROME ... Clinical Synopsis for 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.2008   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Novembre ... ... 0.20% meningioma 116 0.20% brugada syndrome 116 0.20% xeroderma pigmentosum 115 ... 32 0.05% syndrome de lyell 31 0.05% artrite psoriatica 31 0.05% atresia de ... http://orphanet.orpha.net/stat/orphanet/search_200611.html   orphanet.orpha.net - summary OMIM Update List for March, 2005 ... LYMPHOPROLIFERATIVE SYNDROME, X-LINKED. 550000 ... 601224 POTOCKI-SHAFFER SYNDROME ... Clinical Synopsis for 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2005   www.ncbi.nlm.nih.gov - summary OMIM Update List for June, 2007 400042 SERTOLI CELL-ONLY SYNDROME, Y-LINKED ... 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1. 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.2007   www.ncbi.nlm.nih.gov - summary OMIM Update List for September, 1998 598500 WOLFRAM SYNDROME, MITOCHONDRIAL FORM ... Synopsis for 136300 FLYNN-AIRD SYNDROME ... 255800 SCHWARTZ-JAMPEL SYNDROME; SJS. 272800 TAY-SACHS DISEASE; TSD ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?9.1998   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mars 2007 ... ... moya 140 0.18% microcefalia 133 0.18% teratoma 127 0.17% capillary leak syndrome ... sindrome de marfan 48 0.06% syndrome sec 47 0.06% agenesia do corpo ... http://orphanet.orpha.net/stat/orphanet/search_200703.html   orphanet.orpha.net - summary OMIM Update List for September, 1999 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 ... 601559 SCHWARTZ-JAMPEL SYNDROME, TYPE 2. 601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?9.1999   www.ncbi.nlm.nih.gov - summary Hyperkalemic Periodic Paralysis Type 1 -- GeneReviews -- NCBI Bookshelf ... there has been confusion with Schwartz-Jampel syndrome [Lehmann-Horn et al 2004] ... Congenital myasthenic syndrome is associated with fatigable ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hyper-pp   www.ncbi.nlm.nih.gov - summary Stuve-Wiedemann Syndrome - Yahoo! Health ... that the main title of the report Stuve-Wiedemann Syndrome is not the name you expected. Please check the ... syndrome and Schwartz-Jampel syndrome (SJS) ... http://health.yahoo.com/children-conditions/stuve-wiedemann-...   health.yahoo.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2007 ... ... klinefelter 125 0.09% capillary leak syndrome 124 0.09% microftalmia 121 0.09 ... hiperoxaluria 24 0.02% lewis sumner syndrome 24 0.02% linfedema congenito 24 ... http://orphanet.orpha.net/stat/orphanet/search_200708.html   orphanet.orpha.net - summary 255800 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255800   www.ncbi.nlm.nih.gov - summary 601559 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601559   www.ncbi.nlm.nih.gov - summary DVL1 - Wikipedia, the free encyclopedia The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been ... segment-polarity gene are deleted in the DiGeorge syndrome.". Am. J. Hum. ... http://en.wikipedia.org/wiki/DVL1   en.wikipedia.org - summary Index to Diseases (FY08) Schwartz-Jampel 359.23. sexually transmitted - see Disease, venereal ... Schwartz (-Jampel) syndrome 359.23. Scratchy throat 784.99. Bold. Underline. Italic. Revise ... http://www.cdc.gov/nchs/datawh/ftpserv/ftpicd9/icdidx_addenda08.pdf   www.cdc.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Avril 2006 ... ... 78 0.18% drépanocytose 78 0.18% tay-sachs 77 0.18% sapho syndrome ... 72 0.17% marielle goitschel 68 0.16% syndrome de rett 67 0.15% acondroplasia 67 ... http://www.orpha.net/stat/orphanet/search_200604.html   www.orpha.net - summary Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve ... ... receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. ... Clinical overlap with Schwartz-Jampel type 2 syndrome (SJS2) has suggested that ... http://www.ncbi.nlm.nih.gov/pubmed/14740318   www.ncbi.nlm.nih.gov - summary Schwartz-Jampel syndrome (search) http://www.nextbio.com/b/home/generalSearch.nb?q=Schwartz-Jampel+syndrome   www.nextbio.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2006 ... ... transpeptidase 38 0.09% capillary leak syndrome 38 0.09% cornelia de lange 38 ... phace syndrome 9 0.02% pseudoacondroplasia 9 0.02% retinite pigmentosa 9 0.02 ... http://www.orpha.net/stat/orphanet/search_200608.html   www.orpha.net - summary OMIM Update List for October, 1998 210900 BLOOM SYNDROME; BLM. 236200 HOMOCYSTINURIA. 255800 SCHWARTZ-JAMPEL SYNDROME; SJS. 305100 ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.1998   www.ncbi.nlm.nih.gov - summary OMIM Update List for March, 2001 270200 SJOGREN-LARSSON SYNDROME ... 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1. 600179 GUANYLATE CYCLASE 2D, MEMBRANE; GUCY2D ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2001   www.ncbi.nlm.nih.gov - summary OMIM Update List for March, 2002 218800 CRIGLER-NAJJAR SYNDROME ... 161200 NAIL-PATELLA SYNDROME; NPS ... Clinical Synopsis for 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2002   www.ncbi.nlm.nih.gov - summary show more 1  2