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Dystonia 22, adult-onset(DYT22AO)

MedGen UID:: 1841294
•Concept ID:: C5830658
•: Disease or Syndrome

Synonym:	DYT22AO

Gene (location): Gene(s) directly associated with this condition or phenotype.	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).

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Mental deterioration

MedGen UID:: 66713
•Concept ID:: C0234985
•: Mental or Behavioral Dysfunction

Loss of previously present mental abilities, generally in adults.

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Gait disturbance

MedGen UID:: 107895
•Concept ID:: C0575081
•: Finding

The term gait disturbance can refer to any disruption of the ability to walk.

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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.

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Motor delay

MedGen UID:: 381392
•Concept ID:: C1854301
•: Finding

A type of Developmental delay characterized by a delay in acquiring motor skills.

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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.

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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.

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Abnormality of the nervous system

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: 30285904 Free 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

See all (3)

Recent clinical studies

Etiology

White Matter Microstructural Changes Using Ultra-Strong Diffusion Gradient MRI in Adult-Onset Idiopathic Focal Cervical Dystonia.

MacIver CL, Jones D, Green K, Szewczyk-Krolikowski K, Doring A, Tax CMW, Peall KJ
Neurology 2024 Aug 27;103(4):e209695. Epub 2024 Aug 7 doi: 10.1212/WNL.0000000000209695. PMID: 39110927 Free PMC Article

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: 37909788 Free 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: 31848221 Free PMC Article

Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.

Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N
Eur J Neurol 2015 Jan;22(1):178-86. Epub 2014 Aug 27 doi: 10.1111/ene.12552. PMID: 25164370

See all (20)

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

Familial writer's cramp: a clinical clue for inherited coenzyme Q(10) deficiency.

Amprosi M, Zech M, Steiger R, Nachbauer W, Eigentler A, Gizewski ER, Guger M, Indelicato E, Boesch S
Neurogenetics 2021 Mar;22(1):81-86. Epub 2020 Aug 24 doi: 10.1007/s10048-020-00624-3. PMID: 32830305 Free PMC Article

Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.

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

See all (22)

Therapy

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

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: 25888393 Free 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

See all (7)

Prognosis

Oromandibular dystonia: from onset to spread a multicenter italian study.

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: 37909788 Free PMC Article

Familial writer's cramp: a clinical clue for inherited coenzyme Q(10) deficiency.

Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.

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

See all (12)

Clinical prediction guides

Oromandibular dystonia: from onset to spread a multicenter italian study.

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: 37909788 Free PMC Article

Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ
Neuropediatrics 2017 Jun;48(3):166-184. Epub 2017 Apr 10 doi: 10.1055/s-0037-1601449. PMID: 28561207 Free PMC Article

See all (16)

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

See all (1)

MedGen

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Dystonia 22, adult-onset(DYT22AO)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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