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Akinetic mutism

MedGen UID:
7942
Concept ID:
C0001889
Disease or Syndrome; Finding
Synonyms: Akinetic Autism; Akinetic Mutism; Akinetic Mutisms; Autism, Akinetic; Coma Vigil; Coma Vigilans; Mutism, Akinetic; Vigil, Coma; Vigils, Coma
SNOMED CT: Akinetic autism (53333005); Coma vigilans (53333005); Akinetic mutism (53333005)
 
HPO: HP:0012672
Monarch Initiative: MONDO:0005640

Definition

The combined absence of spontaneous movement (akinesia) and speech (mutism). There may be eye movements consistent with visual tracking and the person may remember the events occurring at the time of the experience of stupor. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAkinetic mutism

Conditions with this feature

Mast syndrome
MedGen UID:
343325
Concept ID:
C1855346
Disease or Syndrome
Mast syndrome (MASTS) is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish (summary by Simpson et al., 2003). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).

Professional guidelines

PubMed

Arnts H, van Erp WS, Lavrijsen JCM, van Gaal S, Groenewegen HJ, van den Munckhof P
Neurosci Biobehav Rev 2020 May;112:270-278. Epub 2020 Feb 7 doi: 10.1016/j.neubiorev.2020.02.006. PMID: 32044373
Hodelín-Tablada R
MEDICC Rev 2016 Oct;18(4):43-46. doi: 10.37757/MR2016.V18.N4.9. PMID: 27829654
Poser S, Zerr I, Schroeter A, Otto M, Giese A, Steinhoff BJ, Kretzschmar HA
Arch Virol Suppl 2000;(16):153-9. doi: 10.1007/978-3-7091-6308-5_14. PMID: 11214918

Recent clinical studies

Etiology

Chen S, He S, Xu YY, Teng HY, Zhang JW
Alzheimer Dis Assoc Disord 2020 Apr-Jun;34(2):188-190. doi: 10.1097/WAD.0000000000000350. PMID: 31651418
Wang X, Li Z, Berglass J, He W, Zhao J, Zhang M, Gao C, Zhang C, Zhang H, Yi X
Pak J Pharm Sci 2016 Nov;29(6 Suppl):2317-2320. PMID: 28167472
Hattori T, Takeuchi T, Kabeya R, Ando K, Tosaki F
Neurol Med Chir (Tokyo) 2013;53(4):224-7. doi: 10.2176/nmc.53.224. PMID: 23615412
Iwasaki Y, Mimuro M, Yoshida M, Kitamoto T, Hashizume Y
Eur J Neurol 2011 Jul;18(7):999-1002. Epub 2010 Aug 16 doi: 10.1111/j.1468-1331.2010.03185.x. PMID: 20722706
Onofrj M, Thomas A
Neurology 2005 Apr 12;64(7):1162-9. doi: 10.1212/01.WNL.0000157058.17871.7B. PMID: 15824341

Diagnosis

Rajalingam P, de Souza A, Lee-Archer M, Dhakal M
J R Coll Physicians Edinb 2023 Mar;53(1):35-39. Epub 2023 Jan 20 doi: 10.1177/14782715221150580. PMID: 36680361
Ghoshal S, Gokhale S, Rebovich G, Caplan LR
Rev Neurol Dis 2011;8(3-4):e55-67. PMID: 22249571
Niedermeyer E
Clin EEG Neurosci 2008 Jan;39(1):39-42. doi: 10.1177/155005940803900112. PMID: 18318418
Marin RS, Wilkosz PA
J Head Trauma Rehabil 2005 Jul-Aug;20(4):377-88. doi: 10.1097/00001199-200507000-00009. PMID: 16030444
Walker RW, Rosenblum MK
Neurology 1992 Oct;42(10):2005-10. doi: 10.1212/wnl.42.10.2005. PMID: 1407584

Therapy

Pilotto A, Odolini S, Masciocchi S, Comelli A, Volonghi I, Gazzina S, Nocivelli S, Pezzini A, Focà E, Caruso A, Leonardi M, Pasolini MP, Gasparotti R, Castelli F, Ashton NJ, Blennow K, Zetterberg H, Padovani A
Ann Neurol 2020 Aug;88(2):423-427. Epub 2020 Jun 9 doi: 10.1002/ana.25783. PMID: 32418288Free PMC Article
Arnts H, van Erp WS, Lavrijsen JCM, van Gaal S, Groenewegen HJ, van den Munckhof P
Neurosci Biobehav Rev 2020 May;112:270-278. Epub 2020 Feb 7 doi: 10.1016/j.neubiorev.2020.02.006. PMID: 32044373
Gutierrez J, Issacson RS, Koppel BS
Dev Med Child Neurol 2010 Oct;52(10):901-7. Epub 2010 Jun 15 doi: 10.1111/j.1469-8749.2010.03717.x. PMID: 20561004
Marin RS, Wilkosz PA
J Head Trauma Rehabil 2005 Jul-Aug;20(4):377-88. doi: 10.1097/00001199-200507000-00009. PMID: 16030444
Walker RW, Rosenblum MK
Neurology 1992 Oct;42(10):2005-10. doi: 10.1212/wnl.42.10.2005. PMID: 1407584

Prognosis

Okamoto K, Abe T, Itoh Y
J Stroke Cerebrovasc Dis 2020 Jun;29(6):104788. Epub 2020 Mar 28 doi: 10.1016/j.jstrokecerebrovasdis.2020.104788. PMID: 32234269
Hattori T, Takeuchi T, Kabeya R, Ando K, Tosaki F
Neurol Med Chir (Tokyo) 2013;53(4):224-7. doi: 10.2176/nmc.53.224. PMID: 23615412
Kotchoubey B, Lotze M
Restor Neurol Neurosci 2013;31(1):25-40. doi: 10.3233/RNN-120249. PMID: 23168499
Onofrj M, Thomas A
Neurology 2005 Apr 12;64(7):1162-9. doi: 10.1212/01.WNL.0000157058.17871.7B. PMID: 15824341
Messert B, Kurlanzik AE, Thorning DR
J Nerv Ment Dis 1976 Jun;162(6):401-9. doi: 10.1097/00005053-197606000-00006. PMID: 1271046

Clinical prediction guides

Pilotto A, Odolini S, Masciocchi S, Comelli A, Volonghi I, Gazzina S, Nocivelli S, Pezzini A, Focà E, Caruso A, Leonardi M, Pasolini MP, Gasparotti R, Castelli F, Ashton NJ, Blennow K, Zetterberg H, Padovani A
Ann Neurol 2020 Aug;88(2):423-427. Epub 2020 Jun 9 doi: 10.1002/ana.25783. PMID: 32418288Free PMC Article
Okamoto K, Abe T, Itoh Y
J Stroke Cerebrovasc Dis 2020 Jun;29(6):104788. Epub 2020 Mar 28 doi: 10.1016/j.jstrokecerebrovasdis.2020.104788. PMID: 32234269
Iwasaki Y
Neuropathology 2017 Apr;37(2):174-188. Epub 2016 Dec 28 doi: 10.1111/neup.12355. PMID: 28028861
Pluchon C, Jaafari N, Loiseau-Corvez MN, Parizel A, Vandermarcq P, Hankard R, Gil R
J Clin Neurosci 2011 Dec;18(12):1738-40. Epub 2011 Oct 15 doi: 10.1016/j.jocn.2011.04.015. PMID: 22001246
Messert B, Kurlanzik AE, Thorning DR
J Nerv Ment Dis 1976 Jun;162(6):401-9. doi: 10.1097/00005053-197606000-00006. PMID: 1271046

Recent systematic reviews

Turkistani AN, Alsharif TH, Aldhafeeri WF, Aljohani S, Alomar S
Clin Neurol Neurosurg 2024 Jul;242:108352. Epub 2024 May 23 doi: 10.1016/j.clineuro.2024.108352. PMID: 38823197
Heckmann JG, Lang CJ, Kindler K, Huk W, Erbguth FJ, Neundörfer B
Crit Care Med 2000 May;28(5):1621-5. doi: 10.1097/00003246-200005000-00061. PMID: 10834723

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