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Dystonia 25(DYT25)

MedGen UID:
930339
•Concept ID:
C4304670
•
Disease or Syndrome
Synonym: DYT25
SNOMED CT: Autosomal dominant focal dystonia DYT25 type (719516000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): GNAL (18p11.21)
 
Monarch Initiative: MONDO:0014033
OMIM®: 615073
Orphanet: ORPHA329466

Definition

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. [from GeneReviews]

Additional description

From OMIM
Dystonia-25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs (summary by Fuchs et al., 2013).  http://www.omim.org/entry/615073

Clinical features

From HPO
Torticollis
MedGen UID:
11859
•Concept ID:
C0040485
•
Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
See: Feature record | Search on this feature
Limb dystonia
MedGen UID:
152944
•Concept ID:
C0751093
•
Sign or Symptom
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
See: Feature record | Search on this feature
Laryngeal dystonia
MedGen UID:
409603
•Concept ID:
C1963946
•
Disease or Syndrome
A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.
See: Feature record | Search on this feature
Lingual dystonia
MedGen UID:
1377034
•Concept ID:
C2242579
•
Sign or Symptom
Involuntary protrusions, movements, spams and contortions of the tongue.
See: Feature record | Search on this feature
Dysphonia
MedGen UID:
282893
•Concept ID:
C1527344
•
Mental or Behavioral Dysfunction
Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Genetic Update and Treatment for Dystonia.
Koptielow J, Szyłak E, Szewczyk-Roszczenko O, Roszczenko P, Kochanowicz J, Kułakowska A, Chorąży M
Int J Mol Sci 2024 Mar 22;25(7) doi: 10.3390/ijms25073571. PMID: 38612382Free PMC Article
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Thiel M, Bamborschke D, Janzarik WG, Assmann B, Zittel S, Patzer S, Auhuber A, Opp J, Matzker E, Bevot A, Seeger J, van Baalen A, Stüve B, Brockmann K, Cirak S, Koy A
J Neurol Neurosurg Psychiatry 2023 Oct;94(10):806-815. Epub 2023 May 24 doi: 10.1136/jnnp-2022-330261. PMID: 37225406
Clinical practice guidelines.
Van Sant AF
Pediatr Phys Ther 2013 Winter;25(4):347. doi: 10.1097/01.pep.0000434374.92441.97. PMID: 24076626

Recent clinical studies

Etiology

Regional structural abnormalities in thalamus in idiopathic cervical dystonia.
Luo Y, Liu H, Zhong L, Weng A, Yang Z, Zhang Y, Zhang J, He X, Ou Z, Yan Z, Cheng Q, Fan X, Zhang X, Zhang W, Hu Q, Peng K, Liu G, Xu J
BMC Neurol 2024 May 24;24(1):174. doi: 10.1186/s12883-024-03680-6. PMID: 38789945Free PMC Article
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study, Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium, Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource, Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network, Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusmão CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA
Brain 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. PMID: 33150406Free PMC Article
Dystonia.
Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP
Nat Rev Dis Primers 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. PMID: 30237473
Dystonia-plus syndromes.
Asmus F, Gasser T
Eur J Neurol 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. PMID: 20590807
Botulinum toxin in clinical practice.
Jankovic J
J Neurol Neurosurg Psychiatry 2004 Jul;75(7):951-7. doi: 10.1136/jnnp.2003.034702. PMID: 15201348Free PMC Article

Diagnosis

Genetic Update and Treatment for Dystonia.
Koptielow J, Szyłak E, Szewczyk-Roszczenko O, Roszczenko P, Kochanowicz J, Kułakowska A, Chorąży M
Int J Mol Sci 2024 Mar 22;25(7) doi: 10.3390/ijms25073571. PMID: 38612382Free PMC Article
Intravenous Haloperidol Versus Ondansetron for Cannabis Hyperemesis Syndrome (HaVOC): A Randomized, Controlled Trial.
Ruberto AJ, Sivilotti MLA, Forrester S, Hall AK, Crawford FM, Day AG
Ann Emerg Med 2021 Jun;77(6):613-619. Epub 2020 Nov 5 doi: 10.1016/j.annemergmed.2020.08.021. PMID: 33160719
Tremor.
Louis ED
Continuum (Minneap Minn) 2019 Aug;25(4):959-975. doi: 10.1212/CON.0000000000000748. PMID: 31356289
Dystonia.
Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP
Nat Rev Dis Primers 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. PMID: 30237473
Pain in Parkinson's disease.
Ford B
Mov Disord 2010;25 Suppl 1:S98-103. doi: 10.1002/mds.22716. PMID: 20187254

Therapy

Medical cannabinoids: a pharmacology-based systematic review and meta-analysis for all relevant medical indications.
Bilbao A, Spanagel R
BMC Med 2022 Aug 19;20(1):259. doi: 10.1186/s12916-022-02459-1. PMID: 35982439Free PMC Article
Tremor.
Louis ED
Continuum (Minneap Minn) 2019 Aug;25(4):959-975. doi: 10.1212/CON.0000000000000748. PMID: 31356289
Dystonia.
Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP
Nat Rev Dis Primers 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. PMID: 30237473
Phenytoin induced dystonia.
Acar T, Alkan G, Çaksen H, Ertekin B, Ergin M, Koçak S, Cander B
Turk J Pediatr 2018;60(1):111-112. doi: 10.24953/turkjped.2018.01.019. PMID: 30102491
Essential tongue tremor.
Biary N, Koller WC
Mov Disord 1987;2(1):25-9. doi: 10.1002/mds.870020103. PMID: 3504257

Prognosis

Neuromodulation for dystonia: target and patient selection.
Mills KA, Starr PA, Ostrem JL
Neurosurg Clin N Am 2014 Jan;25(1):59-75. Epub 2013 Oct 23 doi: 10.1016/j.nec.2013.08.014. PMID: 24262900
Paraneoplastic neurological syndromes.
Graus F, Dalmau J
Curr Opin Neurol 2012 Dec;25(6):795-801. doi: 10.1097/WCO.0b013e328359da15. PMID: 23041955Free PMC Article
Dystonia-plus syndromes.
Asmus F, Gasser T
Eur J Neurol 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. PMID: 20590807
Psychogenic movement disorders.
Miyasaki JM, Sa DS, Galvez-Jimenez N, Lang AE
Can J Neurol Sci 2003 Mar;30 Suppl 1:S94-100. doi: 10.1017/s0317167100003292. PMID: 12691482
Tardive dystonia.
van Harten PN, Kahn RS
Schizophr Bull 1999;25(4):741-8. doi: 10.1093/oxfordjournals.schbul.a033415. PMID: 10667744

Clinical prediction guides

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR
Genet Med 2023 Apr;25(4):100352. Epub 2022 Dec 5 doi: 10.1016/j.gim.2022.11.020. PMID: 36473599Free PMC Article
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA
Mov Disord 2022 Nov;37(11):2197-2209. Epub 2022 Aug 25 doi: 10.1002/mds.29182. PMID: 36054588Free PMC Article
Neuromodulation for dystonia: target and patient selection.
Mills KA, Starr PA, Ostrem JL
Neurosurg Clin N Am 2014 Jan;25(1):59-75. Epub 2013 Oct 23 doi: 10.1016/j.nec.2013.08.014. PMID: 24262900
Paraneoplastic neurological syndromes.
Graus F, Dalmau J
Curr Opin Neurol 2012 Dec;25(6):795-801. doi: 10.1097/WCO.0b013e328359da15. PMID: 23041955Free PMC Article
Dystonia-plus syndromes.
Asmus F, Gasser T
Eur J Neurol 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. PMID: 20590807

Recent systematic reviews

NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.
Gabaldon-Albero A, Mayo S, Martinez F
Int J Mol Sci 2024 May 10;25(10) doi: 10.3390/ijms25105198. PMID: 38791237Free PMC Article
Deep Brain Stimulation for GNAO1-Associated Dystonia: A Systematic Review and Meta-Analysis.
Decraene B, Smeets S, Remans D, Ortibus E, Vandenberghe W, Nuttin B, Theys T, De Vloo P
Neuromodulation 2024 Apr;27(3):440-446. Epub 2023 Nov 24 doi: 10.1016/j.neurom.2023.10.187. PMID: 37999699
Medical cannabinoids: a pharmacology-based systematic review and meta-analysis for all relevant medical indications.
Bilbao A, Spanagel R
BMC Med 2022 Aug 19;20(1):259. doi: 10.1186/s12916-022-02459-1. PMID: 35982439Free PMC Article
Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis.
Boy N, Mengler K, Heringer-Seifert J, Hoffmann GF, Garbade SF, Kölker S
Genet Med 2021 Jan;23(1):13-21. Epub 2020 Sep 28 doi: 10.1038/s41436-020-00971-4. PMID: 32981931Free PMC Article
Flupenthixol versus low-potency first-generation antipsychotic drugs for schizophrenia.
Tardy M, Dold M, Engel RR, Leucht S
Cochrane Database Syst Rev 2014 Sep 1;2014(9):CD009227. doi: 10.1002/14651858.CD009227.pub2. PMID: 25177834Free PMC Article

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