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Tremor-nystagmus-duodenal ulcer syndrome

MedGen UID:
349908
•Concept ID:
C1860860
•
Disease or Syndrome
Synonym: Tremor, nystagmus, and duodenal ulcer
SNOMED CT: Tremor, nystagmus, duodenal ulcer syndrome (782935003); Neuhauser Daly Magnelli syndrome (782935003)
 
Monarch Initiative: MONDO:0008591
OMIM®: 190310
Orphanet: ORPHA3350

Definition

A rare hyperkinetic movement disorder with characteristics of mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs such as gait ataxia and adiadochokinesia may be associated. There have been no further descriptions in the literature since 1976. [from SNOMEDCT_US]

Clinical features

From HPO
Duodenal ulcer
MedGen UID:
41670
•Concept ID:
C0013295
•
Disease or Syndrome
An erosion of the mucous membrane in a portion of the duodenum.
See: Feature record | Search on this feature
Tremor
MedGen UID:
21635
•Concept ID:
C0040822
•
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
See: Feature record | Search on this feature
Abnormal cerebellum morphology
MedGen UID:
400925
•Concept ID:
C1866129
•
Anatomical Abnormality
Any structural abnormality of the cerebellum.
See: Feature record | Search on this feature
Kinetic tremor
MedGen UID:
1638576
•Concept ID:
C4551521
•
Sign or Symptom
Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.
See: Feature record | Search on this feature
Nystagmus
MedGen UID:
45166
•Concept ID:
C0028738
•
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Gyang Ross E, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ; Peer Review Committee Members
Circulation 2022 Dec 13;146(24):e334-e482. Epub 2022 Nov 2 doi: 10.1161/CIR.0000000000001106. PMID: 36322642Free PMC Article
Acute Respiratory Distress Syndrome: Diagnosis and Management.
Saguil A, Fargo MV
Am Fam Physician 2020 Jun 15;101(12):730-738. PMID: 32538594
Upper Gastrointestinal Bleeding in Adults: Evaluation and Management.
Wilkins T, Wheeler B, Carpenter M
Am Fam Physician 2020 Mar 1;101(5):294-300. PMID: 32109037

Recent clinical studies

Etiology

Acute aortic syndrome.
Vilacosta I, Ferrera C, San Román A
Med Clin (Barc) 2024 Jan 12;162(1):22-28. Epub 2023 Aug 26 doi: 10.1016/j.medcli.2023.07.027. PMID: 37640592
Thoracic Aortic Syndromes.
Strayer RJ
Emerg Med Clin North Am 2017 Nov;35(4):713-725. doi: 10.1016/j.emc.2017.06.002. PMID: 28987425
Nasal septal ulceration.
Sardana K, Goel K
Clin Dermatol 2014 Nov-Dec;32(6):817-26. Epub 2014 Oct 29 doi: 10.1016/j.clindermatol.2014.02.022. PMID: 25441476
Acute aortic syndromes.
Booher AM, Eagle KA, Bossone E
Herz 2011 Sep;36(6):480-7. doi: 10.1007/s00059-011-3504-x. PMID: 21912914
Criteria for diagnosis of Behçet's disease. International Study Group for Behçet's Disease.
Lancet 1990 May 5;335(8697):1078-80. PMID: 1970380

Diagnosis

Acute aortic syndrome.
Vilacosta I, Ferrera C, San Román A
Med Clin (Barc) 2024 Jan 12;162(1):22-28. Epub 2023 Aug 26 doi: 10.1016/j.medcli.2023.07.027. PMID: 37640592
Solitary rectal ulcer syndrome.
Felt-Bersma RJF
Curr Opin Gastroenterol 2021 Jan;37(1):59-65. doi: 10.1097/MOG.0000000000000689. PMID: 33060396
Penetrating Aortic Ulcer and Intramural Hematoma.
Oderich GS, Kärkkäinen JM, Reed NR, Tenorio ER, Sandri GA
Cardiovasc Intervent Radiol 2019 Mar;42(3):321-334. Epub 2018 Nov 9 doi: 10.1007/s00270-018-2114-x. PMID: 30413917
Noninfectious genital ulcers.
Kirshen C, Edwards L
Semin Cutan Med Surg 2015 Dec;34(4):187-91. doi: 10.12788/j.sder.2015.0168. PMID: 26650697
Nasal septal ulceration.
Sardana K, Goel K
Clin Dermatol 2014 Nov-Dec;32(6):817-26. Epub 2014 Oct 29 doi: 10.1016/j.clindermatol.2014.02.022. PMID: 25441476

Therapy

Acute Aortic Syndromes.
Rogers RK, Reece TB, Bonaca MP, Hess CN
Cardiol Clin 2021 Nov;39(4):495-503. doi: 10.1016/j.ccl.2021.06.002. PMID: 34686262
Immunological therapeutics in acute aortic syndrome.
Rimmer LJ, Moughal S, Bashir M
Asian Cardiovasc Thorac Ann 2020 Oct;28(8):512-519. Epub 2020 Jul 16 doi: 10.1177/0218492320943350. PMID: 32674584
Fecal microbiota transplantation for gastrointestinal diseases.
Matsuoka K, Mizuno S, Hayashi A, Hisamatsu T, Naganuma M, Kanai T
Keio J Med 2014;63(4):69-74. Epub 2014 Dec 15 doi: 10.2302/kjm.2014-0006-RE. PMID: 25500625
Acute aortic syndromes.
Booher AM, Eagle KA, Bossone E
Herz 2011 Sep;36(6):480-7. doi: 10.1007/s00059-011-3504-x. PMID: 21912914
Criteria for diagnosis of Behçet's disease. International Study Group for Behçet's Disease.
Lancet 1990 May 5;335(8697):1078-80. PMID: 1970380

Prognosis

Pediatric Skin Failure.
Cohen KE, Scanlon MC, Bemanian A, Schindler CA
Am J Crit Care 2017 Jul;26(4):320-328. doi: 10.4037/ajcc2017806. PMID: 28668918
Nasal septal ulceration.
Sardana K, Goel K
Clin Dermatol 2014 Nov-Dec;32(6):817-26. Epub 2014 Oct 29 doi: 10.1016/j.clindermatol.2014.02.022. PMID: 25441476
Acute aortic syndromes.
Booher AM, Eagle KA, Bossone E
Herz 2011 Sep;36(6):480-7. doi: 10.1007/s00059-011-3504-x. PMID: 21912914
Trigeminal trophic syndrome.
Rashid RM, Khachemoune A
J Eur Acad Dermatol Venereol 2007 Jul;21(6):725-31. doi: 10.1111/j.1468-3083.2007.02250.x. PMID: 17567297
Criteria for diagnosis of Behçet's disease. International Study Group for Behçet's Disease.
Lancet 1990 May 5;335(8697):1078-80. PMID: 1970380

Clinical prediction guides

Global vascular guidelines on the management of chronic limb-threatening ischemia.
Conte MS, Bradbury AW, Kolh P, White JV, Dick F, Fitridge R, Mills JL, Ricco JB, Suresh KR, Murad MH; GVG Writing Group
J Vasc Surg 2019 Jun;69(6S):3S-125S.e40. Epub 2019 May 28 doi: 10.1016/j.jvs.2019.02.016. PMID: 31159978Free PMC Article
Acute Coronary and Acute Aortic Syndromes.
Gulhane A, Litt H
Radiol Clin North Am 2019 Jan;57(1):25-44. doi: 10.1016/j.rcl.2018.08.004. PMID: 30454815
Osteoporosis in Gastrointestinal Diseases.
Krela-Kaźmierczak I, Szymczak A, Łykowska-Szuber L, Eder P, Linke K
Adv Clin Exp Med 2016 Jan-Feb;25(1):185-90. doi: 10.17219/acem/33746. PMID: 26935513
Gastrointestinal Behçet's disease: a review.
Skef W, Hamilton MJ, Arayssi T
World J Gastroenterol 2015 Apr 7;21(13):3801-12. doi: 10.3748/wjg.v21.i13.3801. PMID: 25852265Free PMC Article
Criteria for diagnosis of Behçet's disease. International Study Group for Behçet's Disease.
Lancet 1990 May 5;335(8697):1078-80. PMID: 1970380

Recent systematic reviews

Risk Factors for Early-Onset Colorectal Cancer: A Systematic Review and Meta-analysis.
O'Sullivan DE, Sutherland RL, Town S, Chow K, Fan J, Forbes N, Heitman SJ, Hilsden RJ, Brenner DR
Clin Gastroenterol Hepatol 2022 Jun;20(6):1229-1240.e5. Epub 2021 Jan 29 doi: 10.1016/j.cgh.2021.01.037. PMID: 33524598
Systematic Review of Safety and Efficacy of Rituximab in Treating Immune-Mediated Disorders.
Kaegi C, Wuest B, Schreiner J, Steiner UC, Vultaggio A, Matucci A, Crowley C, Boyman O
Front Immunol 2019;10:1990. Epub 2019 Sep 6 doi: 10.3389/fimmu.2019.01990. PMID: 31555262Free PMC Article
Global vascular guidelines on the management of chronic limb-threatening ischemia.
Conte MS, Bradbury AW, Kolh P, White JV, Dick F, Fitridge R, Mills JL, Ricco JB, Suresh KR, Murad MH; GVG Writing Group
J Vasc Surg 2019 Jun;69(6S):3S-125S.e40. Epub 2019 May 28 doi: 10.1016/j.jvs.2019.02.016. PMID: 31159978Free PMC Article
Prone Position for Acute Respiratory Distress Syndrome. A Systematic Review and Meta-Analysis.
Munshi L, Del Sorbo L, Adhikari NKJ, Hodgson CL, Wunsch H, Meade MO, Uleryk E, Mancebo J, Pesenti A, Ranieri VM, Fan E
Ann Am Thorac Soc 2017 Oct;14(Supplement_4):S280-S288. doi: 10.1513/AnnalsATS.201704-343OT. PMID: 29068269
Urban legends: recurrent aphthous stomatitis.
Baccaglini L, Lalla RV, Bruce AJ, Sartori-Valinotti JC, Latortue MC, Carrozzo M, Rogers RS 3rd
Oral Dis 2011 Nov;17(8):755-70. Epub 2011 Aug 4 doi: 10.1111/j.1601-0825.2011.01840.x. PMID: 21812866Free PMC Article

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