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Focal, segmental or multifocal dystonia

MedGen UID:
1842644
•Concept ID:
C5680914
•
Disease or Syndrome
Synonym: focal, segmental or multifocal dystonia
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015990
Orphanet: ORPHA1866

Definition

A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal, segmental or multifocal dystonia

Professional guidelines

PubMed

Executive summary of the KDIGO 2021 Guideline for the Management of Glomerular Diseases.
Rovin BH, Adler SG, Barratt J, Bridoux F, Burdge KA, Chan TM, Cook HT, Fervenza FC, Gibson KL, Glassock RJ, Jayne DRW, Jha V, Liew A, Liu ZH, Mejía-Vilet JM, Nester CM, Radhakrishnan J, Rave EM, Reich HN, Ronco P, Sanders JF, Sethi S, Suzuki Y, Tang SCW, Tesar V, Vivarelli M, Wetzels JFM, Lytvyn L, Craig JC, Tunnicliffe DJ, Howell M, Tonelli MA, Cheung M, Earley A, Floege J
Kidney Int 2021 Oct;100(4):753-779. doi: 10.1016/j.kint.2021.05.015. PMID: 34556300
Nephrotic syndrome in infants and children: pathophysiology and management.
Downie ML, Gallibois C, Parekh RS, Noone DG
Paediatr Int Child Health 2017 Nov;37(4):248-258. Epub 2017 Sep 15 doi: 10.1080/20469047.2017.1374003. PMID: 28914167
Diagnosis and Management of Nephrotic Syndrome in Adults.
Kodner C
Am Fam Physician 2016 Mar 15;93(6):479-85. PMID: 26977832

Recent clinical studies

Etiology

Approach to fever in children.
Jayashree M, Parameswaran N, Nallasamy K, Chidambaram AC, Rajasegar R, Dhodapkar R, Chhabra M, Gupta N, Kaur H, Velayudhan A, Deol S, Lodha R, Vasanthapuram R, Verghese VP, Rose W
Indian J Med Microbiol 2024 Jul-Aug;50:100650. Epub 2024 Jun 24 doi: 10.1016/j.ijmmb.2024.100650. PMID: 38897571
Dystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort.
Shaikh AG, Beylergil SB, Scorr L, Kilic-Berkmen G, Freeman A, Klein C, Junker J, Loens S, Brüggemann N, Münchau A, Bäumer T, Vidailhet M, Roze E, Bonnet C, Jankovic J, Jimenez-Shahed J, Patel N, Marsh L, Comella C, Barbano RL, Berman BD, Malaty I, Wagle Shukla A, Reich SG, Ledoux MS, Berardelli A, Ferrazzano G, Stover N, Ondo W, Pirio Richardson S, Saunders-Pullman R, Mari Z, Agarwal P, Adler C, Chouinard S, Fox SH, Brashear A, Truong D, Suchowersky O, Frank S, Factor S, Perlmutter J, Jinnah HA
Neurology 2021 Jan 26;96(4):e563-e574. Epub 2020 Oct 12 doi: 10.1212/WNL.0000000000011049. PMID: 33046615Free PMC Article
Eosinophilic Gastrointestinal Diseases in Childhood.
Koutri E, Papadopoulou A
Ann Nutr Metab 2018;73 Suppl 4:18-28. Epub 2019 Feb 19 doi: 10.1159/000493668. PMID: 30783041
Localizing factors in atherosclerosis.
Pescetelli I, Zimarino M, Ghirarduzzi A, De Caterina R
J Cardiovasc Med (Hagerstown) 2015 Dec;16(12):824-30. doi: 10.2459/JCM.0000000000000224. PMID: 25575274
Voxel-based morphometry--the methods.
Ashburner J, Friston KJ
Neuroimage 2000 Jun;11(6 Pt 1):805-21. doi: 10.1006/nimg.2000.0582. PMID: 10860804

Diagnosis

The Dystonias.
Stephen CD
Continuum (Minneap Minn) 2022 Oct 1;28(5):1435-1475. doi: 10.1212/CON.0000000000001159. PMID: 36222773Free PMC Article
Rest tremor in dystonia: epidemiology, differential diagnosis, and pathophysiology.
Gupta N, Pandey S
Neurol Sci 2020 Sep;41(9):2377-2388. Epub 2020 Apr 23 doi: 10.1007/s10072-020-04402-9. PMID: 32328831
Tumor Malignancy Detection Using Histopathology Imaging.
Kurmi Y, Chaurasia V, Ganesh N
J Med Imaging Radiat Sci 2019 Dec;50(4):514-528. Epub 2019 Sep 6 doi: 10.1016/j.jmir.2019.07.004. PMID: 31501064
Eosinophilic Gastrointestinal Diseases in Childhood.
Koutri E, Papadopoulou A
Ann Nutr Metab 2018;73 Suppl 4:18-28. Epub 2019 Feb 19 doi: 10.1159/000493668. PMID: 30783041
Left ventricle Hermite-based segmentation.
Olveres J, Nava R, Escalante-Ramírez B, Vallejo E, Kybic J
Comput Biol Med 2017 Aug 1;87:236-249. Epub 2017 May 31 doi: 10.1016/j.compbiomed.2017.05.025. PMID: 28618336

Therapy

The Dystonias.
Stephen CD
Continuum (Minneap Minn) 2022 Oct 1;28(5):1435-1475. doi: 10.1212/CON.0000000000001159. PMID: 36222773Free PMC Article
Proteinuria Reduction and Kidney Survival in Focal Segmental Glomerulosclerosis.
Troost JP, Trachtman H, Spino C, Kaskel FJ, Friedman A, Moxey-Mims MM, Fine RN, Gassman JJ, Kopp JB, Walsh L, Wang R, Gipson DS
Am J Kidney Dis 2021 Feb;77(2):216-225. Epub 2020 Aug 10 doi: 10.1053/j.ajkd.2020.04.014. PMID: 32791086Free PMC Article
Endothelin: 30 Years From Discovery to Therapy.
Barton M, Yanagisawa M
Hypertension 2019 Dec;74(6):1232-1265. Epub 2019 Nov 4 doi: 10.1161/HYPERTENSIONAHA.119.12105. PMID: 31679425
Long-term outcomes for neoadjuvant versus adjuvant chemotherapy in early breast cancer: meta-analysis of individual patient data from ten randomised trials.
Early Breast Cancer Trialists' Collaborative Group (EBCTCG)
Lancet Oncol 2018 Jan;19(1):27-39. Epub 2017 Dec 11 doi: 10.1016/S1470-2045(17)30777-5. PMID: 29242041Free PMC Article
Effect of radiotherapy after breast-conserving surgery on 10-year recurrence and 15-year breast cancer death: meta-analysis of individual patient data for 10,801 women in 17 randomised trials.
Early Breast Cancer Trialists' Collaborative Group (EBCTCG), Darby S, McGale P, Correa C, Taylor C, Arriagada R, Clarke M, Cutter D, Davies C, Ewertz M, Godwin J, Gray R, Pierce L, Whelan T, Wang Y, Peto R
Lancet 2011 Nov 12;378(9804):1707-16. Epub 2011 Oct 19 doi: 10.1016/S0140-6736(11)61629-2. PMID: 22019144Free PMC Article

Prognosis

Incidence and risk factors for recurrent focal segmental glomerulosclerosis after kidney transplantation: a meta-analysis.
Bai J, Zhang T, Wang Y, Cao J, Duan Z, Ji L, Zhou Y, Hao C, Guo Q
Ren Fail 2023 Dec;45(1):2201341. doi: 10.1080/0886022X.2023.2201341. PMID: 37070350Free PMC Article
The UK Standardisation of Breast Radiotherapy (START) trials of radiotherapy hypofractionation for treatment of early breast cancer: 10-year follow-up results of two randomised controlled trials.
Haviland JS, Owen JR, Dewar JA, Agrawal RK, Barrett J, Barrett-Lee PJ, Dobbs HJ, Hopwood P, Lawton PA, Magee BJ, Mills J, Simmons S, Sydenham MA, Venables K, Bliss JM, Yarnold JR; START Trialists' Group
Lancet Oncol 2013 Oct;14(11):1086-1094. Epub 2013 Sep 19 doi: 10.1016/S1470-2045(13)70386-3. PMID: 24055415
The incidence of primary glomerulonephritis worldwide: a systematic review of the literature.
McGrogan A, Franssen CF, de Vries CS
Nephrol Dial Transplant 2011 Feb;26(2):414-30. Epub 2010 Nov 10 doi: 10.1093/ndt/gfq665. PMID: 21068142
Twenty-year follow-up of a randomized trial comparing total mastectomy, lumpectomy, and lumpectomy plus irradiation for the treatment of invasive breast cancer.
Fisher B, Anderson S, Bryant J, Margolese RG, Deutsch M, Fisher ER, Jeong JH, Wolmark N
N Engl J Med 2002 Oct 17;347(16):1233-41. doi: 10.1056/NEJMoa022152. PMID: 12393820
Randomized trial of lobectomy versus limited resection for T1 N0 non-small cell lung cancer. Lung Cancer Study Group.
Ginsberg RJ, Rubinstein LV
Ann Thorac Surg 1995 Sep;60(3):615-22; discussion 622-3. doi: 10.1016/0003-4975(95)00537-u. PMID: 7677489

Clinical prediction guides

Spread of segmental/multifocal idiopathic adult-onset dystonia to a third body site.
Ercoli T, Erro R, Fabbrini G, Pellicciari R, Girlanda P, Terranova C, Avanzino L, Di Biasio F, Barone P, Esposito M, De Joanna G, Eleopra R, Bono F, Manzo L, Bentivoglio AR, Petracca M, Mascia MM, Albanese A, Castagna A, Ceravolo R, Altavista MC, Scaglione C, Magistrelli L, Zibetti M, Bertolasi L, Coletti Moja M, Cotelli MS, Cossu G, Minafra B, Pisani A, Misceo S, Modugno N, Romano M, Cassano D, Berardelli A, Defazio G; Italian Dystonia Registry Participants
Parkinsonism Relat Disord 2021 Jun;87:70-74. Epub 2021 May 12 doi: 10.1016/j.parkreldis.2021.04.022. PMID: 33991781
Dystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort.
Shaikh AG, Beylergil SB, Scorr L, Kilic-Berkmen G, Freeman A, Klein C, Junker J, Loens S, Brüggemann N, Münchau A, Bäumer T, Vidailhet M, Roze E, Bonnet C, Jankovic J, Jimenez-Shahed J, Patel N, Marsh L, Comella C, Barbano RL, Berman BD, Malaty I, Wagle Shukla A, Reich SG, Ledoux MS, Berardelli A, Ferrazzano G, Stover N, Ondo W, Pirio Richardson S, Saunders-Pullman R, Mari Z, Agarwal P, Adler C, Chouinard S, Fox SH, Brashear A, Truong D, Suchowersky O, Frank S, Factor S, Perlmutter J, Jinnah HA
Neurology 2021 Jan 26;96(4):e563-e574. Epub 2020 Oct 12 doi: 10.1212/WNL.0000000000011049. PMID: 33046615Free PMC Article
Automated Quantitative Nuclear Cardiology Methods.
Motwani M, Berman DS, Germano G, Slomka P
Cardiol Clin 2016 Feb;34(1):47-57. Epub 2015 Oct 20 doi: 10.1016/j.ccl.2015.08.003. PMID: 26590779Free PMC Article
Glomerular diseases: FSGS.
Bose B, Cattran D; Toronto Glomerulonephritis Registry
Clin J Am Soc Nephrol 2014 Mar;9(3):626-32. Epub 2013 Aug 29 doi: 10.2215/CJN.05810513. PMID: 23990165Free PMC Article
P-wave morphology in focal atrial tachycardia: development of an algorithm to predict the anatomic site of origin.
Kistler PM, Roberts-Thomson KC, Haqqani HM, Fynn SP, Singarayar S, Vohra JK, Morton JB, Sparks PB, Kalman JM
J Am Coll Cardiol 2006 Sep 5;48(5):1010-7. Epub 2006 Aug 17 doi: 10.1016/j.jacc.2006.03.058. PMID: 16949495

Recent systematic reviews

Complete Percutaneous Coronary Revascularization in Acute Coronary Syndromes With Multivessel Coronary Disease: A Systematic Review.
Faro DC, Laudani C, Agnello FG, Ammirabile N, Finocchiaro S, Legnazzi M, Mauro MS, Mazzone PM, Occhipinti G, Rochira C, Scalia L, Spagnolo M, Greco A, Capodanno D
JACC Cardiovasc Interv 2023 Oct 9;16(19):2347-2364. doi: 10.1016/j.jcin.2023.07.043. PMID: 37821180
Margin status and survival outcomes after breast cancer conservation surgery: prospectively registered systematic review and meta-analysis.
Bundred JR, Michael S, Stuart B, Cutress RI, Beckmann K, Holleczek B, Dahlstrom JE, Gath J, Dodwell D, Bundred NJ
BMJ 2022 Sep 21;378:e070346. doi: 10.1136/bmj-2022-070346. PMID: 36130770Free PMC Article
Interventions for focal segmental glomerulosclerosis in adults.
Hodson EM, Sinha A, Cooper TE
Cochrane Database Syst Rev 2022 Feb 28;2(2):CD003233. doi: 10.1002/14651858.CD003233.pub3. PMID: 35224732Free PMC Article
A systematic review: characteristics, complications and treatment of spondylodiscitis.
Gentile L, Benazzo F, De Rosa F, Boriani S, Dallagiacoma G, Franceschetti G, Gaeta M, Cuzzocrea F
Eur Rev Med Pharmacol Sci 2019 Apr;23(2 Suppl):117-128. doi: 10.26355/eurrev_201904_17481. PMID: 30977878
Ocular ischemic syndrome - a systematic review.
Terelak-Borys B, Skonieczna K, Grabska-Liberek I
Med Sci Monit 2012 Aug;18(8):RA138-144. doi: 10.12659/msm.883260. PMID: 22847215Free PMC Article

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