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Dystonia 31(DYT31)

MedGen UID:
1794211
Concept ID:
C5562001
Disease or Syndrome
Synonym: ZECH-BOESCH SYNDROME
 
Gene (location): AOPEP (9q22.32)
 
Monarch Initiative: MONDO:0030455
OMIM®: 619565

Definition

Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family (summary by Zech et al., 2022). [from OMIM]

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Writer cramp
MedGen UID:
57821
Concept ID:
C0154676
Disease or Syndrome
A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.
Abnormal posturing
MedGen UID:
66660
Concept ID:
C0231471
Finding
Involuntary flexion or extension of the arms and legs.
Parkinsonian disorder
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Generalized dystonia
MedGen UID:
341342
Concept ID:
C1848954
Finding
A type of dystonia that affects all or most of the body.
Craniofacial dystonia
MedGen UID:
868612
Concept ID:
C4023011
Disease or Syndrome
A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.
Leg dystonia
MedGen UID:
1671070
Concept ID:
C4732775
Sign or Symptom
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.
Arm dystonia
MedGen UID:
1671069
Concept ID:
C4732776
Finding
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.
Muscle stiffness
MedGen UID:
113151
Concept ID:
C0221170
Sign or Symptom
A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
Difficulty walking
MedGen UID:
86319
Concept ID:
C0311394
Finding
Reduced ability to walk (ambulate).
Weak voice
MedGen UID:
66033
Concept ID:
C0241700
Finding
Reduced intensity (volume) of speech.

Professional guidelines

PubMed

Szejko N, Robinson S, Hartmann A, Ganos C, Debes NM, Skov L, Haas M, Rizzo R, Stern J, Münchau A, Czernecki V, Dietrich A, Murphy TL, Martino D, Tarnok Z, Hedderly T, Müller-Vahl KR, Cath DC
Eur Child Adolesc Psychiatry 2022 Mar;31(3):383-402. Epub 2021 Oct 18 doi: 10.1007/s00787-021-01842-2. PMID: 34661764Free PMC Article
Dressler D, Altavista MC, Altenmueller E, Bhidayasiri R, Bohlega S, Chana P, Chung TM, Colosimo C, Fheodoroff K, Garcia-Ruiz PJ, Jeon B, Jin L, Kanovsky P, Milanov I, Micheli F, Orlova O, Pandey S, Pirtosek Z, Relja M, Rosales R, Sagástegui-Rodríguez JA, Shahidi GA, Timerbaeva S, Wan X, Walter U, Saberi FA
J Neural Transm (Vienna) 2021 Mar;128(3):321-335. Epub 2021 Feb 26 doi: 10.1007/s00702-021-02312-4. PMID: 33635442Free PMC Article
Baguley IJ, Perkes IE, Fernandez-Ortega JF, Rabinstein AA, Dolce G, Hendricks HT; Consensus Working Group
J Neurotrauma 2014 Sep 1;31(17):1515-20. Epub 2014 Jul 28 doi: 10.1089/neu.2013.3301. PMID: 24731076

Recent clinical studies

Etiology

Bilbao A, Spanagel R
BMC Med 2022 Aug 19;20(1):259. doi: 10.1186/s12916-022-02459-1. PMID: 35982439Free PMC Article
Szejko N, Robinson S, Hartmann A, Ganos C, Debes NM, Skov L, Haas M, Rizzo R, Stern J, Münchau A, Czernecki V, Dietrich A, Murphy TL, Martino D, Tarnok Z, Hedderly T, Müller-Vahl KR, Cath DC
Eur Child Adolesc Psychiatry 2022 Mar;31(3):383-402. Epub 2021 Oct 18 doi: 10.1007/s00787-021-01842-2. PMID: 34661764Free PMC Article
Dressler D, Altavista MC, Altenmueller E, Bhidayasiri R, Bohlega S, Chana P, Chung TM, Colosimo C, Fheodoroff K, Garcia-Ruiz PJ, Jeon B, Jin L, Kanovsky P, Milanov I, Micheli F, Orlova O, Pandey S, Pirtosek Z, Relja M, Rosales R, Sagástegui-Rodríguez JA, Shahidi GA, Timerbaeva S, Wan X, Walter U, Saberi FA
J Neural Transm (Vienna) 2021 Mar;128(3):321-335. Epub 2021 Feb 26 doi: 10.1007/s00702-021-02312-4. PMID: 33635442Free PMC Article
Ellwood J, Draper-Rodi J, Carnes D
Chiropr Man Therap 2020 Jun 11;28(1):31. doi: 10.1186/s12998-020-00321-w. PMID: 32522230Free PMC Article
Boelig RC, Barton SJ, Saccone G, Kelly AJ, Edwards SJ, Berghella V
J Matern Fetal Neonatal Med 2018 Sep;31(18):2492-2505. Epub 2017 Jul 11 doi: 10.1080/14767058.2017.1342805. PMID: 28614956

Diagnosis

Ricciardi L, Bologna M, Marsili L, Espay AJ
Adv Neurobiol 2023;31:157-176. doi: 10.1007/978-3-031-26220-3_9. PMID: 37338701
Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, Pasini E, Albini-Riccioli L, Papa V, Foschini MP, Cenacchi G, Furia F, Marjanovic D, Hammer TB, Møller RS, Rubboli G
Epilepsia 2023 Aug;64(8):e170-e176. Epub 2023 Jun 8 doi: 10.1111/epi.17634. PMID: 37114479
Szejko N, Robinson S, Hartmann A, Ganos C, Debes NM, Skov L, Haas M, Rizzo R, Stern J, Münchau A, Czernecki V, Dietrich A, Murphy TL, Martino D, Tarnok Z, Hedderly T, Müller-Vahl KR, Cath DC
Eur Child Adolesc Psychiatry 2022 Mar;31(3):383-402. Epub 2021 Oct 18 doi: 10.1007/s00787-021-01842-2. PMID: 34661764Free PMC Article
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J
Lancet Neurol 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. PMID: 33098801Free PMC Article
Moore DM, Rizzolo D
JAAPA 2018 Apr;31(4):18-22. doi: 10.1097/01.JAA.0000531044.72598.26. PMID: 29517619

Therapy

Bilbao A, Spanagel R
BMC Med 2022 Aug 19;20(1):259. doi: 10.1186/s12916-022-02459-1. PMID: 35982439Free PMC Article
Moore DM, Rizzolo D
JAAPA 2018 Apr;31(4):18-22. doi: 10.1097/01.JAA.0000531044.72598.26. PMID: 29517619
Keklicek H, Uygur F
J Back Musculoskelet Rehabil 2018;31(2):315-321. doi: 10.3233/BMR-169746. PMID: 28946532
Boelig RC, Barton SJ, Saccone G, Kelly AJ, Edwards SJ, Berghella V
J Matern Fetal Neonatal Med 2018 Sep;31(18):2492-2505. Epub 2017 Jul 11 doi: 10.1080/14767058.2017.1342805. PMID: 28614956
Scaglione F
Toxins (Basel) 2016 Mar 4;8(3) doi: 10.3390/toxins8030065. PMID: 26959061Free PMC Article

Prognosis

Aladeen TS, Mattle AG, Zelen K, Mesha M, Rainka MM, Geist T, Myers B, Mechtler L
Clin Neuropharmacol 2023 May-Jun 01;46(3):98-104. Epub 2023 Apr 19 doi: 10.1097/WNF.0000000000000550. PMID: 37191563
Pavone P, Pappalardo XG, Ruggieri M, Falsaperla R, Parano E
Medicine (Baltimore) 2022 Aug 5;101(31):e29413. doi: 10.1097/MD.0000000000029413. PMID: 35945798Free PMC Article
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group
Neurology 2021 Mar 2;96(9):e1369-e1382. Epub 2021 Jan 25 doi: 10.1212/WNL.0000000000011528. PMID: 33495376Free PMC Article
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J
Lancet Neurol 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. PMID: 33098801Free PMC Article
Newby R, Alty J, Kempster P
Mov Disord 2016 Dec;31(12):1777-1784. Epub 2016 Oct 18 doi: 10.1002/mds.26805. PMID: 27753149

Clinical prediction guides

Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR
Genet Med 2023 Apr;25(4):100352. Epub 2022 Dec 5 doi: 10.1016/j.gim.2022.11.020. PMID: 36473599Free PMC Article
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J
Lancet Neurol 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. PMID: 33098801Free PMC Article
Schirinzi T, Sciamanna G, Mercuri NB, Pisani A
Curr Opin Neurol 2018 Aug;31(4):498-503. doi: 10.1097/WCO.0000000000000580. PMID: 29746398
Boelig RC, Barton SJ, Saccone G, Kelly AJ, Edwards SJ, Berghella V
J Matern Fetal Neonatal Med 2018 Sep;31(18):2492-2505. Epub 2017 Jul 11 doi: 10.1080/14767058.2017.1342805. PMID: 28614956
Newby R, Alty J, Kempster P
Mov Disord 2016 Dec;31(12):1777-1784. Epub 2016 Oct 18 doi: 10.1002/mds.26805. PMID: 27753149

Recent systematic reviews

Bilbao A, Spanagel R
BMC Med 2022 Aug 19;20(1):259. doi: 10.1186/s12916-022-02459-1. PMID: 35982439Free PMC Article
Medina Escobar A, Pringsheim T, Goodarzi Z, Martino D
Neurosci Biobehav Rev 2021 Jun;125:221-230. Epub 2021 Mar 1 doi: 10.1016/j.neubiorev.2021.02.036. PMID: 33662441
Ellwood J, Draper-Rodi J, Carnes D
Chiropr Man Therap 2020 Jun 11;28(1):31. doi: 10.1186/s12998-020-00321-w. PMID: 32522230Free PMC Article
Mainka T, Erro R, Rothwell J, Kühn AA, Bhatia KP, Ganos C
Parkinsonism Relat Disord 2019 Sep;66:9-15. Epub 2019 Feb 16 doi: 10.1016/j.parkreldis.2019.02.020. PMID: 30898428
Boelig RC, Barton SJ, Saccone G, Kelly AJ, Edwards SJ, Berghella V
J Matern Fetal Neonatal Med 2018 Sep;31(18):2492-2505. Epub 2017 Jul 11 doi: 10.1080/14767058.2017.1342805. PMID: 28614956

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