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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.
See: This record
Not genetically inherited (Orphanet)
 
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

Updates in the Diagnosis and Treatment of Paraneoplastic Neurologic Syndromes.
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

Motor symptoms in nonparaneoplastic CNS disorders associated with neural antibodies.
Gaig C, Graus F
Handb Clin Neurol 2023;196:277-294. doi: 10.1016/B978-0-323-98817-9.00004-1. PMID: 37620074
Updates in the Diagnosis and Treatment of Paraneoplastic Neurologic Syndromes.
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
Autoimmune movement disorders.
Mckeon A, Vincent A
Handb Clin Neurol 2016;133:301-15. doi: 10.1016/B978-0-444-63432-0.00017-7. PMID: 27112684
Childhood onset of stiff-man syndrome.
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
Stiff-man syndrome and variants: clinical course, treatments, and outcomes.
McKeon A, Robinson MT, McEvoy KM, Matsumoto JY, Lennon VA, Ahlskog JE, Pittock SJ
Arch Neurol 2012 Feb;69(2):230-8. doi: 10.1001/archneurol.2011.991. PMID: 22332190

Diagnosis

SPS: Understanding the complexity.
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
Epidemiology and outcomes of acute encephalitis.
Venkatesan A
Curr Opin Neurol 2015 Jun;28(3):277-82. doi: 10.1097/WCO.0000000000000199. PMID: 25887770
Autoantibody-associated movement disorders.
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
Childhood onset of stiff-man syndrome.
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
Stiff person syndrome.
Duddy ME, Baker MR
Front Neurol Neurosci 2009;26:147-165. Epub 2009 Apr 6 doi: 10.1159/000212375. PMID: 19349711

Therapy

Progressive Encephalomyelitis with Rigidity and Myoclonus Resolving after Thymectomy with Subsequent Anasarca: An Autopsy Case.
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
Successful immune moderation treatment for progressive encephalomyelitis with rigidity and myoclonus.
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
Progressive encephalomyelitis with rigidity and myoclonus: a new variant with DPPX antibodies.
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
Progressive encephalomyelitis with rigidity and myoclonus: the first pediatric case with glycine receptor antibodies.
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
Stiff-man syndrome and variants: clinical course, treatments, and outcomes.
McKeon A, Robinson MT, McEvoy KM, Matsumoto JY, Lennon VA, Ahlskog JE, Pittock SJ
Arch Neurol 2012 Feb;69(2):230-8. doi: 10.1001/archneurol.2011.991. PMID: 22332190

Prognosis

Expanding clinical profiles and prognostic markers in stiff person syndrome spectrum disorders.
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
SPS: Understanding the complexity.
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
GAD65 neurological autoimmunity.
McKeon A, Tracy JA
Muscle Nerve 2017 Jul;56(1):15-27. Epub 2017 Apr 11 doi: 10.1002/mus.25565. PMID: 28063151
Epidemiology and outcomes of acute encephalitis.
Venkatesan A
Curr Opin Neurol 2015 Jun;28(3):277-82. doi: 10.1097/WCO.0000000000000199. PMID: 25887770
Stiff person syndrome.
Duddy ME, Baker MR
Front Neurol Neurosci 2009;26:147-165. Epub 2009 Apr 6 doi: 10.1159/000212375. PMID: 19349711

Clinical prediction guides

Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM)-like Symptoms Associated with Anti-ganglionic Acetylcholine Receptor Antibodies.
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
Glycine receptor autoantibodies disrupt inhibitory neurotransmission.
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
GAD65 neurological autoimmunity.
McKeon A, Tracy JA
Muscle Nerve 2017 Jul;56(1):15-27. Epub 2017 Apr 11 doi: 10.1002/mus.25565. PMID: 28063151
Stiff-person syndrome: insights into a complex autoimmune disorder.
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
Stiff-man syndrome and variants: clinical course, treatments, and outcomes.
McKeon A, Robinson MT, McEvoy KM, Matsumoto JY, Lennon VA, Ahlskog JE, Pittock SJ
Arch Neurol 2012 Feb;69(2):230-8. doi: 10.1001/archneurol.2011.991. PMID: 22332190

Recent systematic reviews

Psychiatric Symptoms in Stiff-Person Syndrome: A Systematic Review and a Report of Two Cases.
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
Childhood onset of stiff-man syndrome.
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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