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Dystonia 22, adult-onset(DYT22AO)

MedGen UID:
1841294
•Concept ID:
C5830658
•
Disease or Syndrome
Synonym: DYT22AO
 
Gene (location): TSPOAP1 (17q22)
 
Monarch Initiative: MONDO:0957542
OMIM®: 620456

Definition

Adult-onset dystonia-22 (DYT22AO) is an autosomal recessive disorder characterized by focal dystonia or tremor and mild cognitive impairment (Mencacci et al., 2021). [from OMIM]

Clinical features

From HPO
Babinski sign
MedGen UID:
19708
•Concept ID:
C0034935
•
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
See: Feature record | Search on this feature
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
Mental deterioration
MedGen UID:
66713
•Concept ID:
C0234985
•
Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
See: Feature record | Search on this feature
Gait disturbance
MedGen UID:
107895
•Concept ID:
C0575081
•
Finding
The term gait disturbance can refer to any disruption of the ability to walk.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Motor delay
MedGen UID:
381392
•Concept ID:
C1854301
•
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
See: Feature record | Search on this feature
Upper limb postural tremor
MedGen UID:
357212
•Concept ID:
C1867138
•
Finding
A type of tremors that is triggered by holding an arm in a fixed position.
See: Feature record | Search on this feature
Retrocollis
MedGen UID:
854508
•Concept ID:
C3887667
•
Disease or Syndrome
A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B
Orphanet J Rare Dis 2018 Oct 1;13(1):175. doi: 10.1186/s13023-018-0913-4. PMID: 30285904Free PMC Article
Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.
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
Molding the sensory cortex: spatial acuity improves after botulinum toxin treatment for cervical dystonia.
Walsh R, Hutchinson M
Mov Disord 2007 Dec;22(16):2443-6. doi: 10.1002/mds.21759. PMID: 17960812

Recent clinical studies

Etiology

Demographics and Clinical Characteristics Associated with the Spread of New-Onset Laryngeal Dystonia.
Ghanouni A, Jona N, Jinnah HA, Kilic-Berkmen G, Shelly S, Klein AM
Laryngoscope 2024 May;134(5):2295-2299. Epub 2023 Nov 1 doi: 10.1002/lary.31146. PMID: 37909788Free PMC Article
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.
Berman BD, Groth CL, Sillau SH, Pirio Richardson S, Norris SA, Junker J, Brüggemann N, Agarwal P, Barbano RL, Espay AJ, Vizcarra JA, Klein C, Bäumer T, Loens S, Reich SG, Vidailhet M, Bonnet C, Roze E, Jinnah HA, Perlmutter JS
J Neurol Neurosurg Psychiatry 2020 Mar;91(3):314-320. Epub 2019 Dec 17 doi: 10.1136/jnnp-2019-321794. PMID: 31848221Free PMC Article
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC
Neurology 2019 Jan 1;92(1):e19-e29. Epub 2018 Nov 30 doi: 10.1212/WNL.0000000000006700. PMID: 30504431
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia.
Martino D, Muglia M, Abbruzzese G, Berardelli A, Girlanda P, Liguori M, Livrea P, Quattrone A, Roselli F, Sprovieri T, Valente EM, Defazio G
Eur J Neurol 2009 Aug;16(8):949-52. Epub 2009 Apr 17 doi: 10.1111/j.1468-1331.2009.02633.x. PMID: 19473353
Characterization of PLA2G6 as a locus for dystonia-parkinsonism.
Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA
Ann Neurol 2009 Jan;65(1):19-23. doi: 10.1002/ana.21415. PMID: 18570303Free PMC Article

Diagnosis

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
Social cognition in cervical dystonia: phenotype and relationship to anxiety and depression.
Ellement B, Jasaui Y, Kathol K, Nosratmirshekarlou E, Pringsheim T, Sarna J, Callahan BL, Martino D
Eur J Neurol 2021 Jan;28(1):98-107. Epub 2020 Sep 30 doi: 10.1111/ene.14508. PMID: 32896024
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.
Berman BD, Groth CL, Sillau SH, Pirio Richardson S, Norris SA, Junker J, Brüggemann N, Agarwal P, Barbano RL, Espay AJ, Vizcarra JA, Klein C, Bäumer T, Loens S, Reich SG, Vidailhet M, Bonnet C, Roze E, Jinnah HA, Perlmutter JS
J Neurol Neurosurg Psychiatry 2020 Mar;91(3):314-320. Epub 2019 Dec 17 doi: 10.1136/jnnp-2019-321794. PMID: 31848221Free PMC Article
Non-motor symptoms in patients with adult-onset focal dystonia: Sensory and psychiatric disturbances.
Conte A, Berardelli I, Ferrazzano G, Pasquini M, Berardelli A, Fabbrini G
Parkinsonism Relat Disord 2016 Jan;22 Suppl 1:S111-4. Epub 2015 Sep 3 doi: 10.1016/j.parkreldis.2015.09.001. PMID: 26360238
Diagnostic delay in adult-onset dystonia: data from an Italian movement disorder center.
Macerollo A, Superbo M, Gigante AF, Livrea P, Defazio G
J Clin Neurosci 2015 Mar;22(3):608-10. Epub 2015 Jan 7 doi: 10.1016/j.jocn.2014.09.014. PMID: 25577433

Therapy

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B
Orphanet J Rare Dis 2018 Oct 1;13(1):175. doi: 10.1186/s13023-018-0913-4. PMID: 30285904Free PMC Article
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A, Fiumara A, Di Rocco M, Uziel G, Ardissone A, Roccatello D, Alpa M, Bertini E, D'Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria G
Orphanet J Rare Dis 2015 Feb 27;10:22. doi: 10.1186/s13023-015-0240-y. PMID: 25888393Free PMC Article
A long-term follow-up of botulinum toxin A in cervical dystonia.
Mohammadi B, Buhr N, Bigalke H, Krampfl K, Dengler R, Kollewe K
Neurol Res 2009 Jun;31(5):463-6. Epub 2009 Mar 11 doi: 10.1179/174313209X405137. PMID: 19278576
Adult-onset dystonia: atypical manifestation of Segawa disease.
Regula JU, Thoden U, Meinck HM
Mov Disord 2007 Jul 15;22(9):1335-7. doi: 10.1002/mds.21377. PMID: 17516474
The entity of young onset primary cervical dystonia.
Koukouni V, Martino D, Arabia G, Quinn NP, Bhatia KP
Mov Disord 2007 Apr 30;22(6):843-7. doi: 10.1002/mds.21421. PMID: 17357144

Prognosis

Oromandibular dystonia: from onset to spread a multicenter italian study.
Trinchillo A, Esposito M, Terranova C, Rizzo V, Fabbrini G, Ferrazzano G, Belvisi D, Erro R, Barone P, Bono F, Di Biasio F, Bentivoglio AR, Lettieri C, Altavista MC, Scaglione CLM, Albanese A, Mascia MM, Muroni A, Pisani A, Berardelli A, Defazio G
Neurol Sci 2024 Sep;45(9):4341-4348. Epub 2024 Mar 27 doi: 10.1007/s10072-024-07488-7. PMID: 38536550
Demographics and Clinical Characteristics Associated with the Spread of New-Onset Laryngeal Dystonia.
Ghanouni A, Jona N, Jinnah HA, Kilic-Berkmen G, Shelly S, Klein AM
Laryngoscope 2024 May;134(5):2295-2299. Epub 2023 Nov 1 doi: 10.1002/lary.31146. PMID: 37909788Free PMC Article
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.
Berman BD, Groth CL, Sillau SH, Pirio Richardson S, Norris SA, Junker J, Brüggemann N, Agarwal P, Barbano RL, Espay AJ, Vizcarra JA, Klein C, Bäumer T, Loens S, Reich SG, Vidailhet M, Bonnet C, Roze E, Jinnah HA, Perlmutter JS
J Neurol Neurosurg Psychiatry 2020 Mar;91(3):314-320. Epub 2019 Dec 17 doi: 10.1136/jnnp-2019-321794. PMID: 31848221Free PMC Article
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC
Neurology 2019 Jan 1;92(1):e19-e29. Epub 2018 Nov 30 doi: 10.1212/WNL.0000000000006700. PMID: 30504431
Focal limb dystonia.
Pont-Sunyer C, Martí MJ, Tolosa E
Eur J Neurol 2010 Jul;17 Suppl 1:22-7. doi: 10.1111/j.1468-1331.2010.03046.x. PMID: 20590804

Clinical prediction guides

Demographics and Clinical Characteristics Associated with the Spread of New-Onset Laryngeal Dystonia.
Ghanouni A, Jona N, Jinnah HA, Kilic-Berkmen G, Shelly S, Klein AM
Laryngoscope 2024 May;134(5):2295-2299. Epub 2023 Nov 1 doi: 10.1002/lary.31146. PMID: 37909788Free PMC Article
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.
Berman BD, Groth CL, Sillau SH, Pirio Richardson S, Norris SA, Junker J, Brüggemann N, Agarwal P, Barbano RL, Espay AJ, Vizcarra JA, Klein C, Bäumer T, Loens S, Reich SG, Vidailhet M, Bonnet C, Roze E, Jinnah HA, Perlmutter JS
J Neurol Neurosurg Psychiatry 2020 Mar;91(3):314-320. Epub 2019 Dec 17 doi: 10.1136/jnnp-2019-321794. PMID: 31848221Free PMC Article
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B
Orphanet J Rare Dis 2018 Oct 1;13(1):175. doi: 10.1186/s13023-018-0913-4. PMID: 30285904Free PMC Article
Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.
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
Dystonia-predominant adult-onset Huntington disease: association between motor phenotype and age of onset in adults.
Louis ED, Anderson KE, Moskowitz C, Thorne DZ, Marder K
Arch Neurol 2000 Sep;57(9):1326-30. doi: 10.1001/archneur.57.9.1326. PMID: 10987900

Recent systematic reviews

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

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      Related information in NCBI Gene
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      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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