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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
Clinical practice guidelines.
Van Sant AF
Pediatr Phys Ther 2013 Winter;25(4):347. doi: 10.1097/01.pep.0000434374.92441.97. PMID: 24076626
Dystonia: phenotypes and genotypes.
Bressman SB
Rev Neurol (Paris) 2003 Oct;159(10 Pt 1):849-56. PMID: 14628853

Recent clinical studies

Etiology

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
Dystonia: phenotypes and genotypes.
Bressman SB
Rev Neurol (Paris) 2003 Oct;159(10 Pt 1):849-56. PMID: 14628853
Tardive dystonia.
van Harten PN, Kahn RS
Schizophr Bull 1999;25(4):741-8. doi: 10.1093/oxfordjournals.schbul.a033415. PMID: 10667744

Diagnosis

The Dystonias.
Jinnah HA
Continuum (Minneap Minn) 2019 Aug;25(4):976-1000. doi: 10.1212/CON.0000000000000747. PMID: 31356290
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
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
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
The Dystonias.
Jinnah HA
Continuum (Minneap Minn) 2019 Aug;25(4):976-1000. doi: 10.1212/CON.0000000000000747. PMID: 31356290
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
Baclofen Pumps: Uses and Complications.
Woolf SM, Baum CR
Pediatr Emerg Care 2017 Apr;33(4):271-275. doi: 10.1097/PEC.0000000000001090. PMID: 28353527

Prognosis

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla ÁG, Jang SS, Juliá-Palacios N, Keren B, Kopajtich R, Lynch SA, Mignot C, Moorwood C, Neuhofer C, Nigro V, Oostra A, Prokisch H, Saillour V, Schuermans N, Torella A, Verloo P, Yazbeck E, Zollino M, Jech R, Winkelmann J, Necpal J, Calì T, Brini M, Zech M
Genet Med 2023 Dec;25(12):100971. Epub 2023 Sep 4 doi: 10.1016/j.gim.2023.100971. PMID: 37675773
Clinical Presentation and Prognosis of Common Movement Disorders.
Han J, Jain S
Prog Neurol Surg 2018;33:25-40. Epub 2018 Jan 12 doi: 10.1159/000480719. PMID: 29332071
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
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

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
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
Hypertonia Assessment Tool.
Marsico P, Frontzek-Weps V, Balzer J, van Hedel HJ
J Child Neurol 2017 Jan;32(1):132-138. Epub 2016 Oct 15 doi: 10.1177/0883073816671681. PMID: 27742862
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

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
Deep brain stimulation for chorea-acanthocytosis: a systematic review.
Wu Y, Xu YY, Gao Y, Li JM, Liu XW, Wang MQ, Deng H, Xiao LL, Ren HB, Xiong BT, Pan W, Zhou XW, Wang W
Neurosurg Rev 2022 Jun;45(3):1861-1871. Epub 2022 Jan 12 doi: 10.1007/s10143-022-01735-1. PMID: 35020105
The prevalence of anxiety in adult-onset isolated dystonia: A systematic review and meta-analysis.
Medina Escobar A, Martino D, Goodarzi Z
Eur J Neurol 2021 Dec;28(12):4238-4250. Epub 2021 Aug 16 doi: 10.1111/ene.15050. PMID: 34363292
Movement Disorders and Syndromic Autism: A Systematic Review.
Bell L, Wittkowski A, Hare DJ
J Autism Dev Disord 2019 Jan;49(1):54-67. doi: 10.1007/s10803-018-3658-y. PMID: 30014250Free PMC Article
Secondary blepharospasm associated with structural lesions of the brain.
Khooshnoodi MA, Factor SA, Jinnah HA
J Neurol Sci 2013 Aug 15;331(1-2):98-101. Epub 2013 Jun 6 doi: 10.1016/j.jns.2013.05.022. PMID: 23747003Free PMC Article

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