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Lingual dystonia

MedGen UID:
1377034
Concept ID:
C2242579
Sign or Symptom
Synonym: Tongue dystonia
 
HPO: HP:0031008

Definition

Involuntary protrusions, movements, spams and contortions of the tongue. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLingual dystonia

Conditions with this feature

Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
MedGen UID:
490089
Concept ID:
C0796203
Disease or Syndrome
This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).
Torsion dystonia 6
MedGen UID:
236274
Concept ID:
C1414216
Disease or Syndrome
Torsion dystonia-6 (DYT6) is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by Djarmati et al., 2009). Blanchard et al. (2011) provided a review of dystonia-6 and the THAP1 gene.
Striatonigral degeneration, infantile, mitochondrial
MedGen UID:
374113
Concept ID:
C1839022
Disease or Syndrome
Dystonia 25
MedGen UID:
930339
Concept ID:
C4304670
Disease or Syndrome
DYT-GNAL caused by a heterozygous GNAL pathogenic variant has been reported in more than 60 individuals to date. It is characterized by adult-onset isolated dystonia (i.e., no neurologic abnormalities other than tremor are evident on neurologic examination). The dystonia is most commonly focal and segmental, and rarely generalized. Dystonia is typically cervical in onset and commonly progresses to the cranial region (oromandibular/jaw, larynx, eyelids) and/or to one arm. Tremor reported in DYT-GNAL may be dystonic (i.e., occurring in a body part that shows at least minimal signs of dystonia) and may precede or follow the onset of dystonia. Intra- and interfamilial variability is considerable. DYT-GNAL caused by biallelic GNAL pathogenic variants, reported to date in two sibs from a consanguineous family, is characterized by mild intellectual disability and childhood-onset hypertonia that progresses to generalized dystonia.

Professional guidelines

PubMed

Comella CL
Toxicon 2018 Jun 1;147:96-99. Epub 2018 Feb 14 doi: 10.1016/j.toxicon.2018.02.006. PMID: 29453996

Recent clinical studies

Etiology

Wadia PM, Mathur V, Kukkle PL, Khanna JN
Parkinsonism Relat Disord 2023 Sep;114:105806. Epub 2023 Aug 16 doi: 10.1016/j.parkreldis.2023.105806. PMID: 37619301
Dadgardoust PD, Rosales RL, Asuncion RM, Dressler D
J Neural Transm (Vienna) 2019 Feb;126(2):141-148. Epub 2019 Jan 2 doi: 10.1007/s00702-018-1960-7. PMID: 30604200
Pandey S, Sharma S
Neurol India 2018 Jan-Feb;66(1):71-76. doi: 10.4103/0028-3886.222872. PMID: 29322963
Yoshida K
J Prosthodont Res 2018 Apr;62(2):239-244. Epub 2017 Nov 7 doi: 10.1016/j.jpor.2017.09.004. PMID: 29126810
Evatt ML, Freeman A, Factor S
Handb Clin Neurol 2011;100:481-511. doi: 10.1016/B978-0-444-52014-2.00037-9. PMID: 21496604

Diagnosis

Ancora C, Ortigoza-Escobar JD, Valletti MA, Furia F, Nielsen JEK, Møller RS, Gardella E
Epileptic Disord 2024 Apr;26(2):219-224. Epub 2024 Mar 4 doi: 10.1002/epd2.20203. PMID: 38436508
Yoshida K
Toxins (Basel) 2022 Sep 22;14(10) doi: 10.3390/toxins14100656. PMID: 36287925Free PMC Article
Yousafzai ZA, Qayyum W, Khan S, Iftikhar M, Amin QK
F1000Res 2020;9:314. Epub 2020 Apr 30 doi: 10.12688/f1000research.23237.2. PMID: 33145008Free PMC Article
Saeedi Y, Kazemi F, Habibi SAH, Tafakhori A, Chitsaz A, Fasano A, Lang AE, Rohani M
Pediatr Neurol 2020 Feb;103:76-78. Epub 2019 Jun 13 doi: 10.1016/j.pediatrneurol.2019.06.004. PMID: 31371123
Evatt ML, Freeman A, Factor S
Handb Clin Neurol 2011;100:481-511. doi: 10.1016/B978-0-444-52014-2.00037-9. PMID: 21496604

Therapy

Wadia PM, Mathur V, Kukkle PL, Khanna JN
Parkinsonism Relat Disord 2023 Sep;114:105806. Epub 2023 Aug 16 doi: 10.1016/j.parkreldis.2023.105806. PMID: 37619301
Yoshida K
Toxins (Basel) 2022 Sep 22;14(10) doi: 10.3390/toxins14100656. PMID: 36287925Free PMC Article
Jin JW, Chapa A, Kockara N, Helminiak A
BMJ Case Rep 2021 Oct 5;14(10) doi: 10.1136/bcr-2021-242272. PMID: 34610953Free PMC Article
Comella CL
Toxicon 2018 Jun 1;147:96-99. Epub 2018 Feb 14 doi: 10.1016/j.toxicon.2018.02.006. PMID: 29453996
Baskerville JR, McAninch SA
Emerg Med J 2002 Jul;19(4):368-71. doi: 10.1136/emj.19.4.368. PMID: 12101168Free PMC Article

Prognosis

Pandey S, Sharma S
Neurol India 2018 Jan-Feb;66(1):71-76. doi: 10.4103/0028-3886.222872. PMID: 29322963
Nastasi L, Mostile G, Nicoletti A, Zappia M, Reggio E, Catania S
J Neurol 2016 Sep;263(9):1702-8. Epub 2016 Jun 8 doi: 10.1007/s00415-016-8185-1. PMID: 27278063
Baskerville JR, McAninch SA
Emerg Med J 2002 Jul;19(4):368-71. doi: 10.1136/emj.19.4.368. PMID: 12101168Free PMC Article
Factor SA, Barron KD
Mov Disord 1997 Sep;12(5):783-9. doi: 10.1002/mds.870120528. PMID: 9380067
Brin MF, Fahn S, Moskowitz C, Friedman A, Shale HM, Greene PE, Blitzer A, List T, Lange D, Lovelace RE
Mov Disord 1987;2(4):237-54. doi: 10.1002/mds.870020402. PMID: 3504553

Clinical prediction guides

Yoshida K
Toxins (Basel) 2022 Sep 22;14(10) doi: 10.3390/toxins14100656. PMID: 36287925Free PMC Article
Yoshida K
Toxins (Basel) 2019 Jan 17;11(1) doi: 10.3390/toxins11010051. PMID: 30658420Free PMC Article
Pandey S, Tater P
Tremor Other Hyperkinet Mov (N Y) 2018;8:610. Epub 2019 Jan 8 doi: 10.7916/D8RB8NJC. PMID: 30643669Free PMC Article
Comella CL
Toxicon 2018 Jun 1;147:96-99. Epub 2018 Feb 14 doi: 10.1016/j.toxicon.2018.02.006. PMID: 29453996
Pandey S, Sharma S
Neurol India 2018 Jan-Feb;66(1):71-76. doi: 10.4103/0028-3886.222872. PMID: 29322963

Recent systematic reviews

Dadgardoust PD, Rosales RL, Asuncion RM, Dressler D
J Neural Transm (Vienna) 2019 Feb;126(2):141-148. Epub 2019 Jan 2 doi: 10.1007/s00702-018-1960-7. PMID: 30604200
Comella CL
Toxicon 2018 Jun 1;147:96-99. Epub 2018 Feb 14 doi: 10.1016/j.toxicon.2018.02.006. PMID: 29453996

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