U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Foix chavany Marie syndrome

MedGen UID:
419406
Concept ID:
C2931412
Disease or Syndrome
Synonyms: Congenital Foix-Chavany-Marie syndrome (subtype); Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation
SNOMED CT: Foix Chavany Marie syndrome (720956003); Bilateral anterior opercular syndrome (720956003); Facio-pharyngo-glosso-masticatory diplegia (720956003)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0023171
Orphanet: ORPHA2048

Definition

Acortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, with characteristics of severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved. Less than 150 cases have been described in the literature so far. Can occur at any age. Patients have severe speech disturbances and most are mute.Chewing and swallowing are severely impaired. Caused by developmental or acquired bilateral lesions of the anterior opercula. In children, it presents congenitally (bilateral opercular polymicrogyria) or as an acquired disorder due to encephalitis, epilepsy and neurodegenerative disorders. The syndrome is generally sporadic but some familial cases have been described. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFoix chavany Marie syndrome

Recent clinical studies

Etiology

Theys T, Van Cauter S, Kho KH, Vijverman AC, Peeters RR, Sunaert S, van Loon J
J Neurol 2013 Feb;260(2):415-20. Epub 2012 Aug 15 doi: 10.1007/s00415-012-6641-0. PMID: 22893305
Suresh PA, Deepa C
Dev Med Child Neurol 2004 Sep;46(9):617-25. doi: 10.1017/s0012162204001045. PMID: 15344522
Duffau H, Karachi C, Gatignol P, Capelle L
Neurosurgery 2003 Aug;53(2):426-31; discussion 431. doi: 10.1227/01.neu.0000073990.94180.54. PMID: 12925262
Hevner RF, Horoupian DS
Pediatr Neurol 1996 Nov;15(4):348-51. doi: 10.1016/s0887-8994(96)00225-1. PMID: 8972538
Lang C, Reichwein J, Iro H, Treig T
Eur Arch Psychiatry Neurol Sci 1989;239(3):188-93. doi: 10.1007/BF01739653. PMID: 2598964

Diagnosis

Mantyh WG, Chandregowda A, Fulgham JR, Flemming KD, Laughlin RS, Jones DT
Neurology 2019 May 28;92(22):e2620-e2621. doi: 10.1212/WNL.0000000000007569. PMID: 31133571Free PMC Article
Sequeira R, Kamble S, Bhore A, Ronghe A
J Assoc Physicians India 2017 Feb;65(2):85-86. PMID: 28457042
Ann MY, Liu OK, Wu YL
Zhonghua Yi Xue Za Zhi (Taipei) 2001 Sep;64(9):540-4. PMID: 11768286
Christen HJ, Hanefeld F, Kruse E, Imhäuser S, Ernst JP, Finkenstaedt M
Dev Med Child Neurol 2000 Feb;42(2):122-32. doi: 10.1017/s0012162200000232. PMID: 10698330
Weller M
J Neurol 1993;240(4):199-208. doi: 10.1007/BF00818705. PMID: 7684439

Therapy

Demaerel R, Klein S, Van Calenbergh F
Clin Neurol Neurosurg 2020 Sep;196:106058. Epub 2020 Jun 30 doi: 10.1016/j.clineuro.2020.106058. PMID: 32634701
Karli A, Şensoy G, Tekin E, Sofuoğlu AI, Bilgici MC, Özyürek H
J Infect Public Health 2017 Mar-Apr;10(2):232-234. Epub 2016 Jul 21 doi: 10.1016/j.jiph.2016.06.010. PMID: 27452287
Duffau H, Karachi C, Gatignol P, Capelle L
Neurosurgery 2003 Aug;53(2):426-31; discussion 431. doi: 10.1227/01.neu.0000073990.94180.54. PMID: 12925262
Broussolle E, Bakchine S, Tommasi M, Laurent B, Bazin B, Cinotti L, Cohen L, Chazot G
J Neurol Sci 1996 Dec;144(1-2):44-58. doi: 10.1016/s0022-510x(96)00096-2. PMID: 8994103

Prognosis

Nakamura K, Kuroha Y, Hatakeyama M, Kimura AM, Nakamura Y, Murakami Y, Watanabe M, Igarashi H, Takahashi T, Shimada H
BMC Geriatr 2023 Dec 12;23(1):838. doi: 10.1186/s12877-023-04564-z. PMID: 38087192Free PMC Article
Theys T, Van Cauter S, Kho KH, Vijverman AC, Peeters RR, Sunaert S, van Loon J
J Neurol 2013 Feb;260(2):415-20. Epub 2012 Aug 15 doi: 10.1007/s00415-012-6641-0. PMID: 22893305
Martino J, de Lucas EM, Ibáñez-Plágaro FJ, Valle-Folgueral JM, Vázquez-Barquero A
J Neurosurg 2012 Nov;117(5):844-50. Epub 2012 Sep 7 doi: 10.3171/2012.7.JNS12404. PMID: 22957529
Duffau H, Taillandier L, Gatignol P, Capelle L
Clin Neurol Neurosurg 2006 Sep;108(6):543-8. Epub 2005 Oct 6 doi: 10.1016/j.clineuro.2005.09.004. PMID: 16213653
Lang C, Reichwein J, Iro H, Treig T
Eur Arch Psychiatry Neurol Sci 1989;239(3):188-93. doi: 10.1007/BF01739653. PMID: 2598964

Clinical prediction guides

Digby R, Wells A, Menon D, Helmy A
Acta Neurochir (Wien) 2018 Dec;160(12):2303-2305. Epub 2018 Oct 17 doi: 10.1007/s00701-018-3702-x. PMID: 30328523Free PMC Article
Duffau H, Taillandier L, Gatignol P, Capelle L
Clin Neurol Neurosurg 2006 Sep;108(6):543-8. Epub 2005 Oct 6 doi: 10.1016/j.clineuro.2005.09.004. PMID: 16213653
Iannetti P, Raucci U, Basile LA, Spalice A, Parisi P, Fariello G, Imperato C
Childs Nerv Syst 1994 May;10(4):264-9. doi: 10.1007/BF00301166. PMID: 7923239
Colamaria V, Sgrò V, Caraballo R, Simeone M, Zullini E, Fontana E, Zanetti R, Grimau-Merino R, Dalla Bernardina B
Epilepsia 1991 May-Jun;32(3):329-34. doi: 10.1111/j.1528-1157.1991.tb04659.x. PMID: 1904343

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...