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9,918 Possible Causes for 1,, ATAXIA,, Episodic, ILE176ARG, TYPE

  • Episodic Ataxia

    Table 1.[ncbi.nlm.nih.gov] […] 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] Synonyms are familial periodic ataxia or hereditary paroxysmal cerebellar ataxia.[ncbi.nlm.nih.gov] […] ataxia type 2 (EA2).[ncbi.nlm.nih.gov] Clinical spectrum of episodic ataxia type 2.[ncbi.nlm.nih.gov]

    Missing: ILE176ARG
  • Hereditary Angioedema Type 3

    10,000 to 50,000 [ 1 ].[omicsonline.org] For example some family members with an identical mutation have very rare episodes of angioedema, whereas other family members have frequent attacks.[immunology.org] 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] Gueye Serigne 1, Kane Yaya 2 *, Dahri Souad 1, Kounde Clement 1, Soumeila Illiassou 1, Dridat Meryem 1, Ged Etienne 1, Asma Allal 1, Delas Audrey 3, 4, Sidi Aly (Ould Mohamed[clinical-experimental-nephrology.imedpub.com]

    Missing: ILE176ARG
  • Spinocerebellar Ataxia Type 1

    […] type 1.[symptoma.com] 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] 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] Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum Genet. 2000;107(2):132–7. PubMed CrossRef Google Scholar 35.[doi.org] Spinocerebellar ataxia type 1 is one of nine polyglutamine expansion diseases and is characterized by cerebellar ataxia and neuronal degeneration in the cerebellum and brainstem[ncbi.nlm.nih.gov]

    Missing: ILE176ARG
  • Spinocerebellar Ataxia Type 6

    Additional studies identify the co-chaperone DnaJ-1 as a potential therapeutic target for SCA6.[ncbi.nlm.nih.gov] 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] The three allelic disorders, episodic ataxia type 2, familial hemiplegic migraine, and SCA6, have overlapping clinical features.[ncbi.nlm.nih.gov] Molecular epidemiology of spinocerebellar ataxia type 6.[ncbi.nlm.nih.gov] We examined the frequency of mutations for SCA types 1, 2, 3, 6, and 7 in southeastern Australia.[doi.org]

    Missing: ILE176ARG
  • GLUT1 Deficiency Syndrome

    Where to Start Genetics Home Reference (GHR) contains information on Glucose transporter type 1 deficiency syndrome.[rarediseases.info.nih.gov] 18 eye movement episodes from 10 patients.[ncbi.nlm.nih.gov] 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] The KDs were effective on seizures (80%), aggravation after fasting (80%) and ataxia (79%). Thus, ataxia was as responsive as seizures.[ncbi.nlm.nih.gov] Patients with (i) carbohydrate-responsive symptoms, with (ii) predominant ataxia or dystonia, but without seizures, and with (iii) paroxysmal exertion-induced dyskinesia and[ncbi.nlm.nih.gov]

    Missing: ILE176ARG
  • Hereditary Angioedema

    J Korean Med Sci. 2012 Jan;27(1):104-6. doi: 10.3346/jkms.2012.27.1.104. Epub 2011 Dec 19.[ncbi.nlm.nih.gov] Episodes of severe headaches, visual disturbances (eg, blurred vision, diplopia), and ataxia have been reported.[emedicine.medscape.com] Types of Hereditary Angioedema Type I and Type II HAE are due to a genetic mutation and there is a 50% chance that children will inherit the condition from an affected parent[web.archive.org] Author information 1 Department of Dermatology, Osaka University Graduate School of Medicine, Osaka, Japan.[ncbi.nlm.nih.gov] Even though there are three types, the most frequent is type I, which is a result from a deficiency of the complement C1 inhibitor.[ncbi.nlm.nih.gov]

    Missing: ILE176ARG
  • Mollaret's Meningitis

    (Oct. 10 issue) 1 seemed to have recurrent lymphocytic meningitis rather than Mollaret's meningitis.[nejm.org] ( Friedreich's ataxia, Ataxia telangiectasia, Hereditary spastic paraplegia ) Spinal muscular atrophy : Werdnig-Hoffman - Kugelberg-Welander - Fazio Londe - MND ( ALS, PMA[wikidoc.org] We report the case of a 27-year-old woman who experienced three episodes of lymphocytic meningitis.[ncbi.nlm.nih.gov] The available literature indicates that the causative agent is herpes simplex virus type 2 (HSV-2) in the majority of cases and much less frequently herpes simplex virus type[ncbi.nlm.nih.gov] Marie Larsson 1 , Tina Falkeborn 1 , Jakob Paues 2 , Urban Forsum 1 , Magnus Lindh 3 , Liselotte Ydrenius 1 , Britt Åkerlind 1 and Lena Serrander 1 Email author BMC Infectious[doi.org]

    Missing: ILE176ARG
  • Multiple Sclerosis

    McKenzie BA 1 , Mamik MK 2 , Saito LB 1 , Boghozian R 2, 3 , Monaco MC 4 , Major EO 4 , Lu JQ 5, 6 , Branton WG 2 , Power C 7, 2, 6 .[ncbi.nlm.nih.gov] ‘Medusa head ataxia’: The expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia.[journals.sagepub.com] 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] 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: ILE176ARG
  • Hemiplegic Migraine

    Abstract Familial hemiplegic migraine type 1 (FHM-1), a rare hereditary form of migraine with aura and hemiparesis, serves as a good model for exploring migraine pathophysiology[ncbi.nlm.nih.gov] 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] Previously, such episodes led to hospitalization and extended clinical examinations, which further worsened the psychoses.[ncbi.nlm.nih.gov] METHODS: Here, we explored the effects of the FHM-1 K1336E mutation on G protein-dependent modulation of the recombinant P/Q-type channel.[ncbi.nlm.nih.gov] To investigate further the frequency, spectrum, and phenotype of PRRT2 mutations, we analyzed this gene in 3 large series of episodic neurologic disorders with PKD/IC, episodic[ncbi.nlm.nih.gov]

    Missing: ILE176ARG
  • Hereditary Angioedema Type 1

    Hereditary angioedema (HAE) is a rare genetic disease that affects approximately 1 in 50,000 individuals and is classified into three types.[symptoma.com] Self-administered acute care can often be given more quickly and therefore reduce episodes of potentially disabling swelling more rapidly.[health.ucsd.edu] episodes are known clinically as angioedema attacks.[raredr.com] 10,000 to 50,000 [ 1 ].[omicsonline.org] Type I HAE is caused by low levels of C1 inhibitor protein. Type II HAE is characterized by normal or elevated levels of dysfunctional C1 inhibitor protein.[medicinenet.com]

    Missing: ILE176ARG

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