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Progressive encephalomyelitis with rigidity and myoclonus(PER; PERM)

MedGen UID:
349287
Concept ID:
C1861457
Disease or Syndrome
Synonym: Progressive encephalomyelitis with rigidity
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018581
OMIM®: 184850
Orphanet: ORPHA438266

Definition

A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive encephalomyelitis with rigidity and myoclonus

Professional guidelines

PubMed

Grativvol RS, Cavalcante WCP, Castro LHM, Nitrini R, Simabukuro MM
Curr Oncol Rep 2018 Nov 10;20(11):92. doi: 10.1007/s11912-018-0721-y. PMID: 30415318

Recent clinical studies

Etiology

Gaig C, Graus F
Handb Clin Neurol 2023;196:277-294. doi: 10.1016/B978-0-323-98817-9.00004-1. PMID: 37620074
Chang A, Lin KY, Chuang KJ, Waters P, Irani S, Mgbachi V, Yeh HL, Lien LM, Chiu HC, Chen WH
Clin Neurol Neurosurg 2021 Sep;208:106807. Epub 2021 Jul 13 doi: 10.1016/j.clineuro.2021.106807. PMID: 34325335
Grativvol RS, Cavalcante WCP, Castro LHM, Nitrini R, Simabukuro MM
Curr Oncol Rep 2018 Nov 10;20(11):92. doi: 10.1007/s11912-018-0721-y. PMID: 30415318
Mckeon A, Vincent A
Handb Clin Neurol 2016;133:301-15. doi: 10.1016/B978-0-444-63432-0.00017-7. PMID: 27112684
Clardy SL, Lennon VA, Dalmau J, Pittock SJ, Jones HR Jr, Renaud DL, Harper CM Jr, Matsumoto JY, McKeon A
JAMA Neurol 2013 Dec;70(12):1531-6. doi: 10.1001/jamaneurol.2013.4442. PMID: 24100349Free PMC Article

Diagnosis

Cullinane PW, Carr AS, Irani SR, Warner TT
Handb Clin Neurol 2024;203:211-233. doi: 10.1016/B978-0-323-90820-7.00003-3. PMID: 39174250
El-Abassi R, Soliman MY, Villemarette-Pittman N, England JD
J Neurol Sci 2019 Sep 15;404:137-149. Epub 2019 Jul 17 doi: 10.1016/j.jns.2019.06.021. PMID: 31377632
Crisp SJ, Balint B, Vincent A
Curr Opin Neurol 2017 Jun;30(3):310-316. doi: 10.1097/WCO.0000000000000450. PMID: 28306573
Mohammad SS, Ramanathan S, Brilot F, Dale RC
Neuropediatrics 2013 Dec;44(6):336-45. Epub 2013 Nov 7 doi: 10.1055/s-0033-1358603. PMID: 24203856
Duddy ME, Baker MR
Front Neurol Neurosci 2009;26:147-165. Epub 2009 Apr 6 doi: 10.1159/000212375. PMID: 19349711

Therapy

Jazebi N, Rodrigo S, Gogia B, Shawagfeh A
J Neuroimmunol 2019 Jul 15;332:135-137. Epub 2019 Apr 6 doi: 10.1016/j.jneuroim.2019.04.003. PMID: 31015081
Ozaki K, Ohkubo T, Yamada T, Yoshioka K, Ichijo M, Majima T, Kudo S, Akashi T, Honda K, Ito E, Watanabe M, Sekine M, Hamagaki M, Eishi Y, Sanjo N, Ishibashi S, Mizusawa H, Yokota T
Intern Med 2018 Dec 1;57(23):3451-3458. Epub 2018 Jul 6 doi: 10.2169/internalmedicine.1238-18. PMID: 29984771Free PMC Article
Ueno S, Miyamoto N, Shimura H, Ueno Y, Watanabe M, Hayashi A, Hattori N, Urabe T
Intern Med 2015;54(2):219-21. Epub 2015 Jan 15 doi: 10.2169/internalmedicine.54.3760. PMID: 25743016
Balint B, Jarius S, Nagel S, Haberkorn U, Probst C, Blöcker IM, Bahtz R, Komorowski L, Stöcker W, Kastrup A, Kuthe M, Meinck HM
Neurology 2014 Apr 29;82(17):1521-8. Epub 2014 Apr 2 doi: 10.1212/WNL.0000000000000372. PMID: 24696508
Damásio J, Leite MI, Coutinho E, Waters P, Woodhall M, Santos MA, Carrilho I, Vincent A
JAMA Neurol 2013 Apr;70(4):498-501. doi: 10.1001/jamaneurol.2013.1872. PMID: 23380884

Prognosis

El-Abassi R, Soliman MY, Villemarette-Pittman N, England JD
J Neurol Sci 2019 Sep 15;404:137-149. Epub 2019 Jul 17 doi: 10.1016/j.jns.2019.06.021. PMID: 31377632
McKeon A, Tracy JA
Muscle Nerve 2017 Jul;56(1):15-27. Epub 2017 Apr 11 doi: 10.1002/mus.25565. PMID: 28063151
Venkatesan A
Curr Opin Neurol 2015 Jun;28(3):277-82. doi: 10.1097/WCO.0000000000000199. PMID: 25887770
Baizabal-Carvallo JF, Jankovic J
J Neurol Neurosurg Psychiatry 2015 Aug;86(8):840-8. Epub 2014 Dec 15 doi: 10.1136/jnnp-2014-309201. PMID: 25511790
Duddy ME, Baker MR
Front Neurol Neurosci 2009;26:147-165. Epub 2009 Apr 6 doi: 10.1159/000212375. PMID: 19349711

Clinical prediction guides

Wang Y, Hu C, Aljarallah S, Reyes Mantilla M, Mukharesh L, Simpson A, Roy S, Harrison K, Shoemaker T, Comisac M, Balshi A, Obando D, Maldonado DAP, Koshorek J, Snoops S, Fitzgerald KC, Newsome SD
J Neurol 2024 Apr;271(4):1861-1872. Epub 2023 Dec 11 doi: 10.1007/s00415-023-12123-0. PMID: 38078976Free PMC Article
Kitazaki Y, Ikawa M, Kishitani T, Kamisawa T, Nakane S, Nakamoto Y, Hamano T
Intern Med 2021 Jul 15;60(14):2307-2313. Epub 2021 Feb 15 doi: 10.2169/internalmedicine.6419-20. PMID: 33583893Free PMC Article
Crisp SJ, Dixon CL, Jacobson L, Chabrol E, Irani SR, Leite MI, Leschziner G, Slaght SJ, Vincent A, Kullmann DM
Brain 2019 Nov 1;142(11):3398-3410. doi: 10.1093/brain/awz297. PMID: 31591639Free PMC Article
McKeon A, Tracy JA
Muscle Nerve 2017 Jul;56(1):15-27. Epub 2017 Apr 11 doi: 10.1002/mus.25565. PMID: 28063151
Baizabal-Carvallo JF, Jankovic J
J Neurol Neurosurg Psychiatry 2015 Aug;86(8):840-8. Epub 2014 Dec 15 doi: 10.1136/jnnp-2014-309201. PMID: 25511790

Recent systematic reviews

Nasri A, Gharbi A, Ouali U, Mrabet S, Souissi A, Jomli R, Gargouri A, Bendjebara M, Kacem I, Gouider R
J Acad Consult Liaison Psychiatry 2023 Mar-Apr;64(2):183-191. Epub 2022 Aug 5 doi: 10.1016/j.jaclp.2022.07.005. PMID: 35940576
Clardy SL, Lennon VA, Dalmau J, Pittock SJ, Jones HR Jr, Renaud DL, Harper CM Jr, Matsumoto JY, McKeon A
JAMA Neurol 2013 Dec;70(12):1531-6. doi: 10.1001/jamaneurol.2013.4442. PMID: 24100349Free PMC Article

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