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Torsion dystonia 17(DYT17)

MedGen UID:
391003
Concept ID:
C2676281
Disease or Syndrome
Synonyms: Dystonia 17; Dystonia 17, torsion, autosomal recessive
 
Monarch Initiative: MONDO:0012895
OMIM®: 612406
Orphanet: ORPHA370103

Definition

Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course. [from ORDO]

Clinical features

From HPO
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
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).
Focal dystonia
MedGen UID:
149279
Concept ID:
C0743332
Disease or Syndrome
A type of dystonia that is localized to a specific part of the body.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTorsion dystonia 17

Professional guidelines

PubMed

Mondrup K, Dupont E, Braendgaard H
Acta Neurol Scand 1985 Sep;72(3):341-3. doi: 10.1111/j.1600-0404.1985.tb00881.x. PMID: 3864333
Marsden CD, Marion MH, Quinn N
J Neurol Neurosurg Psychiatry 1984 Nov;47(11):1166-73. doi: 10.1136/jnnp.47.11.1166. PMID: 6502174Free PMC Article

Recent clinical studies

Etiology

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
Blood AJ, Waugh JL, Münte TF, Heldmann M, Domingo A, Klein C, Breiter HC, Lee LV, Rosales RL, Brüggemann N
Neuroimage Clin 2018;17:835-846. Epub 2017 Oct 28 doi: 10.1016/j.nicl.2017.10.025. PMID: 29527488Free PMC Article
Elia AE, Filippini G, Bentivoglio AR, Fasano A, Ialongo T, Albanese A
Eur J Neurol 2006 Oct;13(10):1083-8. doi: 10.1111/j.1468-1331.2006.01387.x. PMID: 16987160
Fletcher NA, Harding AE, Marsden CD
J Neurol Neurosurg Psychiatry 1991 Aug;54(8):713-7. doi: 10.1136/jnnp.54.8.713. PMID: 1940944Free PMC Article

Diagnosis

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
Urakubo H, Yagishita S, Kasai H, Kubota Y, Ishii S
PLoS Comput Biol 2021 Sep;17(9):e1009364. Epub 2021 Sep 30 doi: 10.1371/journal.pcbi.1009364. PMID: 34591840Free PMC Article
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
Bradley D, Whelan R, Walsh R, O'Dwyer J, Reilly R, Hutchinson S, Molloy F, Hutchinson M
Mov Disord 2010 Jan 15;25(1):84-90. doi: 10.1002/mds.22889. PMID: 19938165
Elia AE, Filippini G, Bentivoglio AR, Fasano A, Ialongo T, Albanese A
Eur J Neurol 2006 Oct;13(10):1083-8. doi: 10.1111/j.1468-1331.2006.01387.x. PMID: 16987160

Therapy

Poewe W
Wien Klin Wochenschr 1999 Sep 17;111(17):664-71. PMID: 10526391
Deonna T
Neuropediatrics 1986 May;17(2):81-5. doi: 10.1055/s-2008-1052506. PMID: 3724992
Marsden CD, Marion MH, Quinn N
J Neurol Neurosurg Psychiatry 1984 Nov;47(11):1166-73. doi: 10.1136/jnnp.47.11.1166. PMID: 6502174Free PMC Article
Rosin AJ, Sahar A, Michaeli Y
Eur Neurol 1978;17(6):363-7. doi: 10.1159/000114975. PMID: 369865
Batshaw ML, Haslam RH
Adv Neurol 1976;14:367-73. PMID: 941778

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
Marks W, Bailey L, Reed M, Pomykal A, Mercer M, Macomber D, Acosta F Jr, Honeycutt J
J Child Neurol 2013 Jul;28(7):840-8. Epub 2013 May 10 doi: 10.1177/0883073813488674. PMID: 23666041
Elia AE, Filippini G, Bentivoglio AR, Fasano A, Ialongo T, Albanese A
Eur J Neurol 2006 Oct;13(10):1083-8. doi: 10.1111/j.1468-1331.2006.01387.x. PMID: 16987160
Fletcher NA, Harding AE, Marsden CD
J Neurol Neurosurg Psychiatry 1991 Aug;54(8):713-7. doi: 10.1136/jnnp.54.8.713. PMID: 1940944Free PMC Article

Clinical prediction guides

Urakubo H, Yagishita S, Kasai H, Kubota Y, Ishii S
PLoS Comput Biol 2021 Sep;17(9):e1009364. Epub 2021 Sep 30 doi: 10.1371/journal.pcbi.1009364. PMID: 34591840Free PMC Article
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
Elia AE, Filippini G, Bentivoglio AR, Fasano A, Ialongo T, Albanese A
Eur J Neurol 2006 Oct;13(10):1083-8. doi: 10.1111/j.1468-1331.2006.01387.x. PMID: 16987160
Lee LV, Kupke KG, Caballar-Gonzaga F, Hebron-Ortiz M, Müller U
Medicine (Baltimore) 1991 May;70(3):179-87. doi: 10.1097/00005792-199105000-00002. PMID: 2030641
Tolosa ES
Arch Neurol 1981 Mar;38(3):147-51. doi: 10.1001/archneur.1981.00510030041005. PMID: 7469847

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