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Rare disorder with dystonia and other neurologic or systemic manifestation

MedGen UID:
1843157
Concept ID:
C5680969
Disease or Syndrome
Orphanet: ORPHA370106

Term Hierarchy

Professional guidelines

PubMed

Cush JJ
Rheum Dis Clin North Am 2022 May;48(2):537-547. doi: 10.1016/j.rdc.2022.02.010. PMID: 35400377
Radu AF, Bungau SG
Cells 2021 Oct 23;10(11) doi: 10.3390/cells10112857. PMID: 34831081Free PMC Article
Rogler G, Singh A, Kavanaugh A, Rubin DT
Gastroenterology 2021 Oct;161(4):1118-1132. Epub 2021 Aug 3 doi: 10.1053/j.gastro.2021.07.042. PMID: 34358489Free PMC Article

Recent clinical studies

Etiology

Oosterloo M, Touze A, Byrne LM, Achenbach J, Aksoy H, Coleman A, Lammert D, Nance M, Nopoulos P, Reilmann R, Saft C, Santini H, Squitieri F, Tabrizi S, Burgunder JM, Quarrell O; Pediatric Huntington Disease Working Group of the European Huntington Disease Network
J Huntingtons Dis 2024;13(2):149-161. doi: 10.3233/JHD-231523. PMID: 38669553Free PMC Article
Laurikka P, Kivelä L, Kurppa K, Kaukinen K
Aliment Pharmacol Ther 2022 Jul;56 Suppl 1(Suppl 1):S64-S72. doi: 10.1111/apt.16912. PMID: 35815828Free PMC Article
Szejko N, Robinson S, Hartmann A, Ganos C, Debes NM, Skov L, Haas M, Rizzo R, Stern J, Münchau A, Czernecki V, Dietrich A, Murphy TL, Martino D, Tarnok Z, Hedderly T, Müller-Vahl KR, Cath DC
Eur Child Adolesc Psychiatry 2022 Mar;31(3):383-402. Epub 2021 Oct 18 doi: 10.1007/s00787-021-01842-2. PMID: 34661764Free PMC Article
Jepsen S, Caton JG, Albandar JM, Bissada NF, Bouchard P, Cortellini P, Demirel K, de Sanctis M, Ercoli C, Fan J, Geurs NC, Hughes FJ, Jin L, Kantarci A, Lalla E, Madianos PN, Matthews D, McGuire MK, Mills MP, Preshaw PM, Reynolds MA, Sculean A, Susin C, West NX, Yamazaki K
J Periodontol 2018 Jun;89 Suppl 1:S237-S248. doi: 10.1002/JPER.17-0733. PMID: 29926943
Ferreli C, Gasparini G, Parodi A, Cozzani E, Rongioletti F, Atzori L
Clin Rev Allergy Immunol 2017 Dec;53(3):306-336. doi: 10.1007/s12016-017-8625-4. PMID: 28712039

Diagnosis

Laurikka P, Kivelä L, Kurppa K, Kaukinen K
Aliment Pharmacol Ther 2022 Jul;56 Suppl 1(Suppl 1):S64-S72. doi: 10.1111/apt.16912. PMID: 35815828Free PMC Article
Kadura S, Raghu G
Eur Respir Rev 2021 Jun 30;30(160) Epub 2021 Jun 23 doi: 10.1183/16000617.0011-2021. PMID: 34168062Free PMC Article
Dilalla V, Chaput G, Williams T, Sultanem K
Curr Oncol 2020 Apr;27(2):107-112. Epub 2020 May 1 doi: 10.3747/co.27.6233. PMID: 32489253Free PMC Article
Jepsen S, Caton JG, Albandar JM, Bissada NF, Bouchard P, Cortellini P, Demirel K, de Sanctis M, Ercoli C, Fan J, Geurs NC, Hughes FJ, Jin L, Kantarci A, Lalla E, Madianos PN, Matthews D, McGuire MK, Mills MP, Preshaw PM, Reynolds MA, Sculean A, Susin C, West NX, Yamazaki K
J Periodontol 2018 Jun;89 Suppl 1:S237-S248. doi: 10.1002/JPER.17-0733. PMID: 29926943
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Therapy

Dilalla V, Chaput G, Williams T, Sultanem K
Curr Oncol 2020 Apr;27(2):107-112. Epub 2020 May 1 doi: 10.3747/co.27.6233. PMID: 32489253Free PMC Article
Cornec-Le Gall E, Alam A, Perrone RD
Lancet 2019 Mar 2;393(10174):919-935. Epub 2019 Feb 25 doi: 10.1016/S0140-6736(18)32782-X. PMID: 30819518
Scher HI, Morris MJ, Stadler WM, Higano C, Basch E, Fizazi K, Antonarakis ES, Beer TM, Carducci MA, Chi KN, Corn PG, de Bono JS, Dreicer R, George DJ, Heath EI, Hussain M, Kelly WK, Liu G, Logothetis C, Nanus D, Stein MN, Rathkopf DE, Slovin SF, Ryan CJ, Sartor O, Small EJ, Smith MR, Sternberg CN, Taplin ME, Wilding G, Nelson PS, Schwartz LH, Halabi S, Kantoff PW, Armstrong AJ; Prostate Cancer Clinical Trials Working Group 3
J Clin Oncol 2016 Apr 20;34(12):1402-18. Epub 2016 Feb 22 doi: 10.1200/JCO.2015.64.2702. PMID: 26903579Free PMC Article
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
Judge DP, Dietz HC
Lancet 2005 Dec 3;366(9501):1965-76. doi: 10.1016/S0140-6736(05)67789-6. PMID: 16325700Free PMC Article

Prognosis

Yan F, Chen X, Quan X, Wang L, Wei X, Zhu J
Cardiovasc Diabetol 2024 May 9;23(1):163. doi: 10.1186/s12933-024-02265-4. PMID: 38725059Free PMC Article
Vossen M, Mitteregger D, Steininger C
Vaccine 2016 Aug 17;34(37):4364-70. Epub 2016 Jul 18 doi: 10.1016/j.vaccine.2016.07.013. PMID: 27443594
Flowers ME, Martin PJ
Blood 2015 Jan 22;125(4):606-15. Epub 2014 Nov 14 doi: 10.1182/blood-2014-08-551994. PMID: 25398933Free PMC Article
Biancardi AL, Curi AL
Ocul Immunol Inflamm 2014 Apr;22(2):148-54. Epub 2013 Oct 9 doi: 10.3109/09273948.2013.833631. PMID: 24107122
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Clinical prediction guides

Jacobi J
Am J Health Syst Pharm 2022 Mar 7;79(6):424-436. doi: 10.1093/ajhp/zxab393. PMID: 34651652
Rogler G, Singh A, Kavanaugh A, Rubin DT
Gastroenterology 2021 Oct;161(4):1118-1132. Epub 2021 Aug 3 doi: 10.1053/j.gastro.2021.07.042. PMID: 34358489Free PMC Article
Siddall E, Khatri M, Radhakrishnan J
Kidney Int 2017 Jul;92(1):37-46. Epub 2017 Mar 17 doi: 10.1016/j.kint.2016.11.029. PMID: 28318633
Birnie DH, Nery PB, Ha AC, Beanlands RS
J Am Coll Cardiol 2016 Jul 26;68(4):411-21. doi: 10.1016/j.jacc.2016.03.605. PMID: 27443438
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Recent systematic reviews

Khan MB, Yang ZS, Lin CY, Hsu MC, Urbina AN, Assavalapsakul W, Wang WH, Chen YH, Wang SF
J Infect Public Health 2023 Oct;16(10):1625-1642. Epub 2023 Aug 3 doi: 10.1016/j.jiph.2023.08.001. PMID: 37595484
Joy GM, Arbiv OA, Wong CK, Lok SD, Adderley NA, Dobosz KM, Johannson KA, Ryerson CJ
Eur Respir Rev 2023 Mar 31;32(167) Epub 2023 Mar 8 doi: 10.1183/16000617.0210-2022. PMID: 36889782Free PMC Article
Liampas A, Parperis K, Erotocritou MF, Nteveros A, Papadopoulou M, Moschovos C, Akil M, Coaccioli S, Hadjigeorgiou GM, Hadjivassiliou M, Zis P
Eur J Neurol 2023 Jan;30(1):255-265. Epub 2022 Sep 23 doi: 10.1111/ene.15555. PMID: 36086910Free PMC Article
Nair AR, Pillai AJ, Nair N
Curr Cardiol Rev 2021;17(4):e230421187681. doi: 10.2174/1573403X16666201106141811. PMID: 33155924Free PMC Article
Tunnicliffe DJ, Singh-Grewal D, Kim S, Craig JC, Tong A
Arthritis Care Res (Hoboken) 2015 Oct;67(10):1440-52. doi: 10.1002/acr.22591. PMID: 25778500

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