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Torsion dystonia 4(DYT4)

MedGen UID:
342124
Concept ID:
C1851943
Disease or Syndrome
Synonyms: Autosomal dominant torsion dystonia 4; Dystonia musculorum deformans 4; Hereditary whispering dysphonia
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.
 
Gene (location): TUBB4A (19p13.3)
 
Monarch Initiative: MONDO:0007493
OMIM®: 128101
Orphanet: ORPHA98805

Definition

Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait (summary by Hersheson et al., 2013). [from OMIM]

Clinical features

From HPO
Slender build
MedGen UID:
376828
Concept ID:
C1850573
Finding
Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Torsion dystonia
MedGen UID:
3941
Concept ID:
C0013423
Disease or Syndrome
Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
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).
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.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Generalized dystonia
MedGen UID:
341342
Concept ID:
C1848954
Finding
A type of dystonia that affects all or most of the body.
Hemidystonia
MedGen UID:
743329
Concept ID:
C1960561
Disease or Syndrome
Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.
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.
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Sunken cheeks
MedGen UID:
869726
Concept ID:
C4024154
Finding
Lack or loss of the soft tissues between the zygomata and mandible.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTorsion dystonia 4
Follow this link to review classifications for Torsion dystonia 4 in Orphanet.

Professional guidelines

PubMed

Schulz A, Richter F, Richter A
J Neurosci Res 2023 Apr;101(4):448-463. Epub 2022 Dec 22 doi: 10.1002/jnr.25157. PMID: 36546658
Kimmich O, Bradley D, Whelan R, Mulrooney N, Reilly RB, Hutchinson S, O'Riordan S, Hutchinson M
Brain 2011 Sep;134(Pt 9):2656-63. Epub 2011 Aug 11 doi: 10.1093/brain/awr194. PMID: 21840890
Lindeboom R, Brans JW, Aramideh M, Speelman HD, De Haan RJ
Mov Disord 1998 Jul;13(4):706-12. doi: 10.1002/mds.870130417. PMID: 9686779

Recent clinical studies

Etiology

Niethammer M, Tang CC, Jamora RDG, Vo A, Nguyen N, Ma Y, Peng S, Waugh JL, Westenberger A, Eidelberg D
Ann Neurol 2023 Oct;94(4):684-695. Epub 2023 Jul 11 doi: 10.1002/ana.26732. PMID: 37376770
Evidente VGH, Evidente DH, Ortega SC, Levine TD, Freeman R, Gibbons CH
Mov Disord 2022 Jan;37(1):130-136. Epub 2021 Sep 28 doi: 10.1002/mds.28801. PMID: 34582053
Jellinger KA
J Neural Transm (Vienna) 2022 Jun;129(5-6):521-543. Epub 2021 Aug 7 doi: 10.1007/s00702-021-02392-2. PMID: 34363531
Song PC, Le H, Acuna P, De Guzman JKP, Sharma N, Francouer TN, Dy ME, Go CL
Laryngoscope 2020 Jan;130(1):171-177. Epub 2019 Mar 19 doi: 10.1002/lary.27897. PMID: 30889292
Groen JL, Kallen MC, van de Warrenburg BP, Speelman JD, van Hilten JJ, Aramideh M, Boon AJ, Klein C, Koelman JH, Langeveld TP, Baas F, Tijssen MA
J Neurol Neurosurg Psychiatry 2012 Oct;83(10):1006-11. Epub 2012 Jul 8 doi: 10.1136/jnnp-2012-302729. PMID: 22773857

Diagnosis

Song SA, Go CL, Acuna PB, De Guzman JKP, Sharma N, Song PC
J Voice 2023 Jan;37(1):134-138. Epub 2020 Dec 14 doi: 10.1016/j.jvoice.2020.11.014. PMID: 33334627Free PMC Article
Evidente VGH, Evidente DH, Ortega SC, Levine TD, Freeman R, Gibbons CH
Mov Disord 2022 Jan;37(1):130-136. Epub 2021 Sep 28 doi: 10.1002/mds.28801. PMID: 34582053
Jellinger KA
J Neural Transm (Vienna) 2022 Jun;129(5-6):521-543. Epub 2021 Aug 7 doi: 10.1007/s00702-021-02392-2. PMID: 34363531
Brooks JT, Bomar JD, Jeffords ME, Farnsworth CL, Pennock AT, Upasani VV
J Pediatr Orthop 2021 Jan;41(1):33-39. doi: 10.1097/BPO.0000000000001700. PMID: 33055518
Bressman SB
Curr Opin Neurol 1998 Aug;11(4):363-72. doi: 10.1097/00019052-199808000-00013. PMID: 9725083

Therapy

Niethammer M, Tang CC, Jamora RDG, Vo A, Nguyen N, Ma Y, Peng S, Waugh JL, Westenberger A, Eidelberg D
Ann Neurol 2023 Oct;94(4):684-695. Epub 2023 Jul 11 doi: 10.1002/ana.26732. PMID: 37376770
Morgante F, Tinazzi M, Squintani G, Martino D, Defazio G, Romito L, Albanese A, Di Matteo A, Quartarone A, Girlanda P, Fiorio M, Berardelli A
Neurology 2011 Sep 20;77(12):1191-7. Epub 2011 Sep 7 doi: 10.1212/WNL.0b013e31822f0449. PMID: 21900627
Bressman SB
Curr Opin Neurol 1998 Aug;11(4):363-72. doi: 10.1097/00019052-199808000-00013. PMID: 9725083
Berardelli A, Currà A, Manfredi M
Curr Opin Neurol 1996 Aug;9(4):317-20. doi: 10.1097/00019052-199608000-00014. PMID: 8858192
Quinn NP, Lang AE, Sheehy MP, Marsden CD
Neurology 1985 May;35(5):766-9. doi: 10.1212/wnl.35.5.766. PMID: 3887215

Prognosis

Ramezani Ghamsari M, Ghourchian S, Emamikhah M, Safdarian M, Shahidi G, Parvaresh M, Moghaddasi M, Habibi SAH, Munhoz RP, Rohani M
Clin Neurol Neurosurg 2021 Feb;201:106449. Epub 2020 Dec 28 doi: 10.1016/j.clineuro.2020.106449. PMID: 33395620
Hanssen H, Heldmann M, Prasuhn J, Tronnier V, Rasche D, Diesta CC, Domingo A, Rosales RL, Jamora RD, Klein C, Münte TF, Brüggemann N
Brain 2018 Oct 1;141(10):2995-3008. doi: 10.1093/brain/awy222. PMID: 30169601
Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C
Ann Neurol 2013 Apr;73(4):537-45. Epub 2013 Apr 17 doi: 10.1002/ana.23829. PMID: 23595291Free PMC Article
Brüggemann N, Klein C
Curr Neurol Neurosci Rep 2010 May;10(3):199-206. doi: 10.1007/s11910-010-0107-5. PMID: 20425035
Chinnery PF, Crompton DE, Birchall D, Jackson MJ, Coulthard A, Lombès A, Quinn N, Wills A, Fletcher N, Mottershead JP, Cooper P, Kellett M, Bates D, Burn J
Brain 2007 Jan;130(Pt 1):110-9. Epub 2006 Dec 2 doi: 10.1093/brain/awl319. PMID: 17142829

Clinical prediction guides

Iacono D, Peng H, Rabin ML, Kurlan R
J Neuropathol Exp Neurol 2023 Jul 20;82(8):695-706. doi: 10.1093/jnen/nlad044. PMID: 37352388
Evidente VGH, Evidente DH, Ortega SC, Levine TD, Freeman R, Gibbons CH
Mov Disord 2022 Jan;37(1):130-136. Epub 2021 Sep 28 doi: 10.1002/mds.28801. PMID: 34582053
Dannug AT, Gabriel FGC, Macias MCYL, Diesta CCE
Parkinsonism Relat Disord 2021 Jun;87:92-97. Epub 2021 May 6 doi: 10.1016/j.parkreldis.2021.04.026. PMID: 34015695
Brooks JT, Bomar JD, Jeffords ME, Farnsworth CL, Pennock AT, Upasani VV
J Pediatr Orthop 2021 Jan;41(1):33-39. doi: 10.1097/BPO.0000000000001700. PMID: 33055518
Song PC, Le H, Acuna P, De Guzman JKP, Sharma N, Francouer TN, Dy ME, Go CL
Laryngoscope 2020 Jan;130(1):171-177. Epub 2019 Mar 19 doi: 10.1002/lary.27897. PMID: 30889292

Recent systematic reviews

Lane V, Lane M, Sturrock A, Rickards H
J Neuropsychiatry Clin Neurosci 2021 Fall;33(4):295-306. Epub 2021 Jul 19 doi: 10.1176/appi.neuropsych.20110293. PMID: 34280321

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