U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Juvenile or adult CACH syndrome

MedGen UID:
1826173
Concept ID:
C5680649
Disease or Syndrome
Synonym: juvenile or adult CACH syndrome
 
Monarch Initiative: MONDO:0015521
Orphanet: ORPHA157719

Professional guidelines

PubMed

Battelino T, Alexander CM, Amiel SA, Arreaza-Rubin G, Beck RW, Bergenstal RM, Buckingham BA, Carroll J, Ceriello A, Chow E, Choudhary P, Close K, Danne T, Dutta S, Gabbay R, Garg S, Heverly J, Hirsch IB, Kader T, Kenney J, Kovatchev B, Laffel L, Maahs D, Mathieu C, Mauricio D, Nimri R, Nishimura R, Scharf M, Del Prato S, Renard E, Rosenstock J, Saboo B, Ueki K, Umpierrez GE, Weinzimer SA, Phillip M
Lancet Diabetes Endocrinol 2023 Jan;11(1):42-57. Epub 2022 Dec 6 doi: 10.1016/S2213-8587(22)00319-9. PMID: 36493795
Waldman R, DeWane ME, Lu J
J Am Acad Dermatol 2020 Feb;82(2):283-296. Epub 2019 Jul 4 doi: 10.1016/j.jaad.2019.05.105. PMID: 31279813
Riddell MC, Gallen IW, Smart CE, Taplin CE, Adolfsson P, Lumb AN, Kowalski A, Rabasa-Lhoret R, McCrimmon RJ, Hume C, Annan F, Fournier PA, Graham C, Bode B, Galassetti P, Jones TW, Millán IS, Heise T, Peters AL, Petz A, Laffel LM
Lancet Diabetes Endocrinol 2017 May;5(5):377-390. Epub 2017 Jan 24 doi: 10.1016/S2213-8587(17)30014-1. PMID: 28126459

Recent clinical studies

Etiology

Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818
Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J
J Neurol Neurosurg Psychiatry 2019 May;90(5):543-554. Epub 2018 Nov 22 doi: 10.1136/jnnp-2018-319481. PMID: 30467211Free PMC Article
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065
Barañano KW
Semin Neurol 2016 Aug;36(4):362-6. Epub 2016 Sep 19 doi: 10.1055/s-0036-1585455. PMID: 27643905

Diagnosis

Wu C, Wang M, Wang X, Li W, Li S, Chen B, Niu S, Tai H, Pan H, Zhang Z
Brain 2023 Jun 1;146(6):2364-2376. doi: 10.1093/brain/awac426. PMID: 36380532Free PMC Article
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818
Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J
J Neurol Neurosurg Psychiatry 2019 May;90(5):543-554. Epub 2018 Nov 22 doi: 10.1136/jnnp-2018-319481. PMID: 30467211Free PMC Article
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065

Therapy

Bosnjak Kuharic D, Markovic D, Brkovic T, Jeric Kegalj M, Rubic Z, Vuica Vukasovic A, Jeroncic A, Puljak L
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD012820. doi: 10.1002/14651858.CD012820.pub2. PMID: 34532852Free PMC Article
Rost NS, Meschia JF, Gottesman R, Wruck L, Helmer K, Greenberg SM; DISCOVERY Investigators
Stroke 2021 Aug;52(8):e499-e516. Epub 2021 May 27 doi: 10.1161/STROKEAHA.120.031611. PMID: 34039035Free PMC Article
McShane R, Westby MJ, Roberts E, Minakaran N, Schneider L, Farrimond LE, Maayan N, Ware J, Debarros J
Cochrane Database Syst Rev 2019 Mar 20;3(3):CD003154. doi: 10.1002/14651858.CD003154.pub6. PMID: 30891742Free PMC Article
Debette S, Schilling S, Duperron MG, Larsson SC, Markus HS
JAMA Neurol 2019 Jan 1;76(1):81-94. doi: 10.1001/jamaneurol.2018.3122. PMID: 30422209Free PMC Article
Creavin ST, Wisniewski S, Noel-Storr AH, Trevelyan CM, Hampton T, Rayment D, Thom VM, Nash KJ, Elhamoui H, Milligan R, Patel AS, Tsivos DV, Wing T, Phillips E, Kellman SM, Shackleton HL, Singleton GF, Neale BE, Watton ME, Cullum S
Cochrane Database Syst Rev 2016 Jan 13;2016(1):CD011145. doi: 10.1002/14651858.CD011145.pub2. PMID: 26760674Free PMC Article

Prognosis

Macchi ZA, Carlisle TC, Filley CM
J Neurol Sci 2022 Nov 15;442:120420. Epub 2022 Sep 13 doi: 10.1016/j.jns.2022.120420. PMID: 36156344Free PMC Article
van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818
Zambrano MD, Miller EC
Curr Atheroscler Rep 2019 Jun 22;21(9):33. doi: 10.1007/s11883-019-0798-2. PMID: 31230137Free PMC Article
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065
Rodriguez D
Handb Clin Neurol 2013;113:1619-28. doi: 10.1016/B978-0-444-59565-2.00030-7. PMID: 23622383

Clinical prediction guides

Liu M, Wang Y, Shi C, Yuan Y, Li L, Zhang X, Xu Y, Yang J
Ann Clin Transl Neurol 2023 Jul;10(7):1119-1135. Epub 2023 May 26 doi: 10.1002/acn3.51794. PMID: 37237429Free PMC Article
Yang W, Jung KH, Kang DW, Lee EJ, Jeong HY, Chung M, Kim Y, Ha J, Kim JM, Lee SH
Neurology 2023 May 2;100(18):e1912-e1921. Epub 2023 Mar 6 doi: 10.1212/WNL.0000000000207130. PMID: 36878709Free PMC Article
Ren Y, Yu X, Chen B, Tang H, Niu S, Wang X, Pan H, Zhang Z
Neurol Sci 2022 Aug;43(8):4961-4977. Epub 2022 Apr 7 doi: 10.1007/s10072-022-06011-0. PMID: 35389136
Debette S, Schilling S, Duperron MG, Larsson SC, Markus HS
JAMA Neurol 2019 Jan 1;76(1):81-94. doi: 10.1001/jamaneurol.2018.3122. PMID: 30422209Free PMC Article
Ayrignac X, Nicolas G, Carra-Dallière C, Hannequin D, Labauge P
JAMA Neurol 2017 Aug 1;74(8):1000-1008. doi: 10.1001/jamaneurol.2017.1062. PMID: 28628708

Recent systematic reviews

Zeng L, Yang T, Yang K, Yu G, Li J, Xiang W, Chen H
Front Immunol 2022;13:891822. Epub 2022 Jul 22 doi: 10.3389/fimmu.2022.891822. PMID: 35935936Free PMC Article
Iso-Markku P, Kujala UM, Knittle K, Polet J, Vuoksimaa E, Waller K
Br J Sports Med 2022 Jun;56(12):701-709. Epub 2022 Mar 17 doi: 10.1136/bjsports-2021-104981. PMID: 35301183Free PMC Article
Onel KB, Horton DB, Lovell DJ, Shenoi S, Cuello CA, Angeles-Han ST, Becker ML, Cron RQ, Feldman BM, Ferguson PJ, Gewanter H, Guzman J, Kimura Y, Lee T, Murphy K, Nigrovic PA, Ombrello MJ, Rabinovich CE, Tesher M, Twilt M, Klein-Gitelman M, Barbar-Smiley F, Cooper AM, Edelheit B, Gillispie-Taylor M, Hays K, Mannion ML, Peterson R, Flanagan E, Saad N, Sullivan N, Szymanski AM, Trachtman R, Turgunbaev M, Veiga K, Turner AS, Reston JT
Arthritis Rheumatol 2022 Apr;74(4):553-569. Epub 2022 Mar 1 doi: 10.1002/art.42037. PMID: 35233993Free PMC Article
Bosnjak Kuharic D, Markovic D, Brkovic T, Jeric Kegalj M, Rubic Z, Vuica Vukasovic A, Jeroncic A, Puljak L
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD012820. doi: 10.1002/14651858.CD012820.pub2. PMID: 34532852Free PMC Article
Kuntze G, Nesbitt C, Whittaker JL, Nettel-Aguirre A, Toomey C, Esau S, Doyle-Baker PK, Shank J, Brooks J, Benseler S, Emery CA
Arch Phys Med Rehabil 2018 Jan;99(1):178-193.e1. Epub 2017 Jul 18 doi: 10.1016/j.apmr.2017.05.030. PMID: 28729171

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...