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5,032 Possible Causes for 1 BP, 2,, 4073C, ATAXIA,, DEL,, Episodic, TYPE

  • Episodic Ataxia

    […] in an EA–2 clinical phenotype.[doi.org] […] ataxia edit English episodic ataxia hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement Isaacs syndrome episodic ataxia[wikidata.org] Author information 1 Istituto di Neurobiologia e Medicina Molecolare, CNR, Via Fosso del Cavaliere, Rome, Italy. [email protected] Abstract The CACNA1A gene[ncbi.nlm.nih.gov] Synonyms are familial periodic ataxia or hereditary paroxysmal cerebellar ataxia.[ncbi.nlm.nih.gov] […] ataxia type 2 (EA2).[ncbi.nlm.nih.gov] Three sets of oligonucleotide primers were designed to amplify all 1448 base pairs (bp) of the single-exon Kv1.1 gene located on chromosome 12p13 (Table 1 ).[doi.org] Clinical spectrum of episodic ataxia type 2.[ncbi.nlm.nih.gov]

    Missing: 4073C
  • Spinocerebellar Ataxia Type 6

    Abstract Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine (FHM) have been known as allelic disorders, which are caused by[ncbi.nlm.nih.gov] The three allelic disorders, episodic ataxia type 2, familial hemiplegic migraine, and SCA6, have overlapping clinical features.[ncbi.nlm.nih.gov] Loeb C, Gandolfo C, Caponnetto C, Del Sette M. Pseudobulbar palsy: a clinical computed tomography study. Eur Neurol. 1990;30:42–6. CrossRef PubMed Google Scholar 15.[link.springer.com] Conflicts of interest There are no conflicts of interest. 1. van Gaalen J, Giunti P, van de Warrenburg BP. Movement disorders in spinocerebellar ataxias.[ruralneuropractice.com] Patients and families with spinocerebellar ataxia type 6 and familial hemiplegic migraine and cerebellar ataxia identified through the Portuguese survey of hereditary ataxias[ncbi.nlm.nih.gov] Molecular epidemiology of spinocerebellar ataxia type 6.[ncbi.nlm.nih.gov] […] is associated with small expansions of a CAG repeat at the 3' end of the gene, while point mutations are responsible for its two allelic disorders (Episodic Ataxia type 2[ncbi.nlm.nih.gov]

    Missing: 4073C
  • Multiple Sclerosis

    CONCLUSIONS: In a phase 2 trial involving patients with progressive multiple sclerosis, ibudilast was associated with slower progression of brain atrophy than placebo but[ncbi.nlm.nih.gov] OBJECTIVE: A 4.5-year follow-up study was conducted to characterize baseline verbal episodic memory (VEM) and its behavior and to assess the effects of relapsing-remitting[ncbi.nlm.nih.gov] Sacro Cuore, Negrar, Verona, Italy. 3 Unit of Neurology B, Azienda Ospedaliera Universitaria Integrata, Verona, Italy. 4 Unit of Neurology, Casa di Cura Pederzoli, Peschiera del[ncbi.nlm.nih.gov] ) by BRRF2- (61 bp) and EBNA-1–specific (107 bp) RT-PCR.[ncbi.nlm.nih.gov] ‘Medusa head ataxia’: The expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia.[journals.sagepub.com] Food and Drug Administration (FDA) to treat all types of MS. Each drug has an indication from the FDA for the type of MS it can be used to treat.[nationalmssociety.org] […] than one episode.[nationalmssociety.org]

    Missing: 4073C
  • Angioedema

    AAE type 2 is often associated with dysglobulinemia of unknown origin.[orpha.net] During the episode, her white blood cell count increased to 47.7 109/L with 89.9% eosinophils, followed by elevated serum level of IL-5, IgE, IgM, and LDH.[ncbi.nlm.nih.gov] KEYWORDS: Hereditary angioedema; abdominal pain; angioedema hereditario; autosomal dominant; autosómico dominante; complement C1 inhibitor; dolor abdominal; inhibidor C1 del[ncbi.nlm.nih.gov] . .0017 ANGIOEDEMA, HEREDITARY, TYPE I, AUTOSOMAL RECESSIVE SERPING1, 11-BP INS/1-BP DEL, NT646 rs1554995271 In a 21-year-old woman with clinical and laboratory findings typical[ncbi.nlm.nih.gov] To evaluate the time to onset of angioedema and the subsequent episodes of angioedema in patients initially experiencing ACE-I- or ARB-induced angioedema.[ncbi.nlm.nih.gov] Algoritmo de diagnóstico y tratamiento del angioedema hereditario como herramienta para su manejo. Farm Hosp. 2013;37(6):521-529.[scielo.org.mx] HAE 2 is the less common form of HAE, accounting for 15% of HAE cases and is seen equally in men and women.[orpha.net]

    Missing: 4073C
  • Otitis Media

    Of these children, 188 had experienced 3 attacks of AOM, 76 had had 1-2 attacks and 207 no otitis attacks ( control group).[doi.org] Two-thirds of all children experience at least one episode of otitis media before the age of 7 years.[ncbi.nlm.nih.gov] Español: Infecciones del oído Overview of Ear Infections There are three main kinds of ear infections, which are called acute otitis (oh-TIE-tus) media (AOM), otitis media[web.archive.org] Pediatrics. 2003, 112 (3 Pt 1): 514-520.[bmcpediatr.biomedcentral.com] The following signs or symptoms are suggestive of intracranial complications: Fever associated with a chronic perforation Lethargy Focal neurologic signs (eg, ataxia, oculomotor[emedicine.com] This article explains the symptoms and causes of ear infections, the treatment options available, as well as the different types and testing methods.[medicalnewstoday.com] Del Mar C. Childhood otitis media. Australian Prescriber. 1994; 17(4): 82-4. Smith JA, Danner CJ. Complications of chronic otitis media and cholesteatoma.[myvmc.com]

    Missing: 4073C
  • Spinocerebellar Ataxia Type 1

    [Table 1] , [Table 2][doi.org] Aemk paroxysmal ataxia with neuromyotonia, hereditary myokymia with periodic ataxia EA Episodic ataxia with myokymia Eam ataxia, episodic, with myokymia AEM Episodic ataxia[diseaseinfosearch.org] […] site (pLasBDei) of the ataxin-1 message.[ncbi.nlm.nih.gov] Abstract We describe the unusual case of a 51-year-old woman with spinocerebellar ataxia type 1 (SCA1) who showed choreiform movements in addition to cerebellar ataxia.[ncbi.nlm.nih.gov] Each type arises due to a specific genetic mutation and in the case of spinocerebellar ataxia type 1 (SCA1), the ataxin-1 gene (located on chromosome 6) is expanded by trinucleotide[symptoma.com] Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. Eur J Med Genet. 2005;48(1):21–8.[doi.org] ., Del Bigio, M.R., Ho, D.H., and Pulst, S.M. (1999).[doi.org]

    Missing: 4073C
  • Hereditary Angioedema Type 3

    Critical Essential Core Tested Community Questions (2) Sorry, this question is for PEAK Premium Subscribers only Sorry, this question is for PEAK Premium Subscribers only[medbullets.com] For example some family members with an identical mutation have very rare episodes of angioedema, whereas other family members have frequent attacks.[immunology.org] Algoritmo de diagnóstico y tratamiento del angioedema hereditario como herramienta para su manejo. Farm Hosp. 2013;37(6):521-529.[scielo.org.mx] Unlike HAE types 1 and 2, in which genetic mutations cause either insufficient production (type 1) or synthesis of a dysfunctional C1-INH (type 2), type 3 is most likely caused[symptoma.com] Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting.[ghr.nlm.nih.gov] Diagnosis Hereditary angioedema type III. There is unfortunately no test for "type III" angioedema (source: AAAAI Ask the Expert ).[allergycases.blogspot.com] His previous angioedema (AE) episodes involved his hands, feet, and genitalia; episodes generally occurred after physical trauma.[the-hospitalist.org]

    Missing: 1 BP 4073C
  • GLUT1 Deficiency Syndrome

    In 2/15 patients seizures recurred after 2(1/2) years despite adequate ketosis, but were controlled by add-on ethosuximide.[ncbi.nlm.nih.gov] 18 eye movement episodes from 10 patients.[ncbi.nlm.nih.gov] Cita del ítem REVISTA MEDICA DE CHILE Vol. 135 MAY 2007 5 631-635[repositorio.uchile.cl] This 57 bp fragment could not be observed in I:1 and in an unrelated control (Fig. 2 B).[hmg.oxfordjournals.org] Myoclonic seizures developed at 4 months of age in Patient #1 (7 years old), and at 2 months of age in Patient #2 (11 years old), followed by cerebellar ataxia, spastic diplegia[ncbi.nlm.nih.gov] Where to Start Genetics Home Reference (GHR) contains information on Glucose transporter type 1 deficiency syndrome.[rarediseases.info.nih.gov] 斉藤訓永、宇野かおる、 小川富雄 第22回日本小児栄養消化器病学会、京都、10、1995 思春期早発症を来した急性リンパ性白血病の1女児例 森庸祐、岡野周子、窪田和興、中里豊、服部拓哉、児玉浩子、伊藤尹敦、阿部敏明 第29回小児内分泌学会、岡山、11、1995 脊髄髄膜瘤・水頭症・鎖肛を呈した1番染色体長腕介在型欠失[46,XY.ish del[mori-kodomo.jp]

    Missing: 4073C
  • Influenza

    Single-dose treatments (5 to 40 mg/kg of body weight given intraperitoneally) of ferrets with 2'-deoxy-2'-fluoroguanosine or its prodrug, 2,6-diamino-purine-2'-fluororiboside[ncbi.nlm.nih.gov] Of the remainder, 196 episodes were excluded because they recurred within 6 months of a previous episode, which left 775 episodes for analysis.[doi.org] CrossRef Google Scholar Miraglia del Giudice, Michele Indolfi, Cristiana and Strisciuglio, Caterina 2018. Vitamin D .[doi.org] Analysis was based on nucleotides 1–1012 (1,012 bp) of the HA gene and 90–945 (856 bp) of the M gene.[doi.org] […] cerebrospinal fluid (CSF), magnetic resonance imaging (MRI), and electroencephalographic (EEG) findings. [30] Clinical features included altered mental status, coma, seizures, and ataxia[emedicine.medscape.com] Influenza type C infections generally cause a mild respiratory illness and are not thought to cause epidemics.[cdc.gov] DOI: 10.1128/AAC.38.8.1864 ABSTRACT Single-dose treatments (5 to 40 mg/kg of body weight given intraperitoneally) of ferrets with 2'-deoxy-2'-fluoroguanosine or its prodrug[doi.org]

    Missing: 4073C
  • Mucolipidosis

    Background information for Mucolipidosis, Type IV ( MCOLN1), 2 Variants: Characteristics: Mucolipidosis type IV is characterized by early onset of severe psychomotor delay[ltd.aruplab.com] A 5-year-old boy with mucolipidosis IV experienced recurrent episodes of severe ocular pain, tearing, and ipsilateral facial flushing.[ncbi.nlm.nih.gov] 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] The serum lysosomal enzymes were strikingly elevated and GlcNAc-1-phosphotransferase activity in the patient's fibroblasts was 3% of normal.[ncbi.nlm.nih.gov] , followed by myoclonus, mental decline mild skeletal features Salla disease mental retardation, ataxia, progressive psychomotor decline ISSD (infantile sialic storage disease[emilytam.com] The severe form of the disorder is called typical mucolipidosis type IV , and the mild form is called atypical mucolipidosis type IV .[ghr.nlm.nih.gov] Abstract Evolution of the early bone lesions in two children with mucolipidosis 2 was followed from birth.[ncbi.nlm.nih.gov]

    Missing: 4073C

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