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806 Possible Causes for 97 BP, DEL, Myoclonus Dystonia, SYNDROME

  • Myoclonus-Dystonia Syndrome 11

    Capillary (Sanger) CGC Genetics - Porto, Portugal TAT : contact lab price : contact lab Myoclonic dystonia (DYT11, deletion/duplication analysis of SGCE gene) method(s): Del[genetests.org] A plethora of articles on myoclonus-dystonia syndrome (MDS) are published in current literature.[pediatricneurologybriefs.com] Other genes associated with myoclonus-dystonia are not imprinted, and mutations that cause the condition can be inherited from either parent. dystonia 11 DYT11 myoclonus-dystonia[ghr.nlm.nih.gov] Keywords Myoclonus-Dystonia Syndrome; Treatment; Medication; Surgery Introduction Myoclonus-Dystonia Syndrome (MDS) is a genetically heterogeneous movement disorder.[omicsonline.org]

    Missing: 97 BP
  • Woodhouse Sakati Syndrome

    El síndrome de Woodhouse-Sakati (WSS) es un proceso que afecta principalmente al sistema endocrino y al sistema nervioso del organismo.[ivami.com] Etiology Woodhouse-Sakati syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function.[orpha.net] Captured DNA is sequenced on the NovaSeq 6000 using 2x150 bp paired-end reads (Illumina, San Diego, CA, USA).[preventiongenetics.com] The phenomenology of these disorders is quite variable encompassing chorea, tremor, dystonia, myoclonus, tics, other dyskinesias, jerks and shakes.[books.google.com]

  • Werner Syndrome

    Universidad Científica del Sur, Lima, Perú. ONCOSALUD, Lima, Perú.[oncologypro.esmo.org] Adult premature aging syndrome Adult Progeria Werner's Syndrome Werners Syndrome WS Huang S, Lee L, Hanson NB, Lenaerts C, Hoehn H, Poot M, Rubin CD, Chen DF, Yang CC, Juch[ghr.nlm.nih.gov] Alter BP (2003) Cancer in Fanconi anemia, 1927–2001. Cancer 97: 425–440. View Article Google Scholar 29.[journals.plos.org] Myoclonus-Dystonia Deborah Raymond and Laurie Ozelius. Initial Posting: May 21, 2003; Last Update: January 26, 2012.[ncbi.nlm.nih.gov]

  • Tourette Syndrome

    […] s/n, 33011 Oviedo, Spain 2 Technical Department, Hospital Universitario Central de Asturias (HUCA), Avda. de Roma s/n, 33011 Oviedo, Spain 3 Neurology Service, Hospital del[dx.doi.org] Gilles de la Tourette Syndrome, now most commonly referred to simply as Tourette Syndrome (TS), is a nervous system disorder that is characterized by repeated involuntary[web.archive.org] Nat Rev Genet. 2006; 7 (2):85–97. [ PubMed ] [ Google Scholar ] 69. Shelley BP, Robertson MM, Turk J.[ncbi.nlm.nih.gov] ., substance use and medical conditions such as Huntington's disease) Differential Transient motor and phonic tics which lasts 1 year Myoclonus Dystonia Chorea Stereotypies[step2.medbullets.com]

  • MERRF Syndrome

    METABOLISMO DEL METABOLISMO E DEL TRASPORTO DELLA COBALAMINA E DEL FOLATO DEFICIT CONGENITO DI COBALAMINA C RCG094 DIFETTI CONGENITI DEL METABOLISMO E DEL TRASPORTO DELLA[www1.unipa.it] […] ragged red fibers (disorder) Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome) myoclonic epilepsy with ragged red fibers Fukuhara syndrome Myoclonus with[wikidata.org] Sci. 928:97–112. PubMed Google Scholar 99. Porteous, W. K., James, A. M., Sheard, P. W., Porteous, C. M., Packer, M. A., Hyslop, S. J., Melton, J. V., Pang, C.[doi.org] Nervous system: ataxia, dystonia, chorea, athetosis, myoclonus, leukodystrophy, seizur es, infantile spasms, cerebral atrophy, myopathy, neuropathy, st roke, deafness, headache[slideshare.net]

  • MELAS Syndrome

    ARNtLeu(UUR) del ADN mitocondrial.[oatext.com] Melas syndrome consists of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke.[pediatricneurologybriefs.com] Hae III restriction site and the 169 bp fragment is cleaved into two fragments of 97 and 72 bp.[scielo.br] Additional features on the neurologic examination may include ataxia, tremor, myoclonus, dystonia, visual disturbances, and cortical blindness.[markalewis.com]

  • Myoclonic Jerking

    Riassunto Il mioclono costituisce un particolare disordine del movimento che può derivare da diversi generatori del sistema nervoso, avere modalità di comparsa variabile ed[link.springer.com] syndrome: a syndrome to recognise.[books.google.com] The myoclonus in myoclonus-dystonia syndrome is often improved with alcohol.[bcm.edu] Hoffman) Charcot Marie Tooth Corea de Huntington Displasia Tanatofórica Distonía de Torsión Temprana Distrofia Miotónica de Steiner Distrofia Oculofaríngea Duchenne Fragilidad del[genda.com.ar]

    Missing: 97 BP
  • Dementia

    Factores de riesgo de mortalidad de los pacientes ancianos en cuidados intensivos sin limitación del esfuerzo de tratamiento .[doi.org] They can then diagnose the causal subtypes of these syndromes using standard criteria for each of them.[ncbi.nlm.nih.gov] Less frequently reported MD include chorea, palatal tremor, dystonia, parkinsonism, opsoclonus-myoclonus, propriospinal myoclonus, paroxysmal dyskinesia, myorhythmia, and[doi.org] Ana Olivia Cortés‐Flores, Andrea del Socorro Álvarez‐Villaseñor, Clotilde Fuentes‐Orozco, Kenia Militzi Ramírez‐Campos, Anais del Roció Ramírez‐Arce, Michel Dassaejv Macías‐Amezcua[doi.org]

    Missing: 97 BP
  • Hypertrichotic Osteochondrodysplasia

    División de Genética, Subjefatura de Investigación Científica, Unidad de Investigación Biomédica y Hospital de Especialidades, Centro Médico de Occidente Instituto Mexicano del[springerlink.com] Cantú syndrome results from mutations in the ABCC9 gene.[ghr.nlm.nih.gov] ( 19,000 genes and 198,000 exons) and flanking intronic regions ( 5 bp).[dovepress.com] , see myoclonus-dystonia hereditary essential tremor , see essential tremor hereditary familial congenital hemorrhagic nephritis , see Alport syndrome hereditary ferritinopathy[herenciageneticayenfermedad.blogspot.com]

  • Myoclonic Dystonia Type 15

    Riassunto Il mioclono costituisce un particolare disordine del movimento che può derivare da diversi generatori del sistema nervoso, avere modalità di comparsa variabile ed[link.springer.com] Pseudoneurologic Syndromes The major pseudoneurologic syndromes are summarized in Table 1 .[aafp.org] Other genes associated with myoclonus-dystonia are not imprinted, and mutations that cause the condition can be inherited from either parent. dystonia 11 DYT11 myoclonus-dystonia[ghr.nlm.nih.gov] Lohmann K , Schmidt A, Schillert A, Winkler S, Albanese A, Baas F, Bentivoglio AR, Borngräber F, Brüggemann N, Defazio G, Del Sorbo F, Deuschl G, Edwards MJ, Gasser T, Gómez-Garre[neurogenetics-luebeck.de]

    Missing: 97 BP