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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.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk.
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.
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
Roze E, Lang AE, Vidailhet M
Curr Opin Neurol 2018 Aug;31(4):484-490. doi: 10.1097/WCO.0000000000000577. PMID: 29952836

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

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
Roze E, Lang AE, Vidailhet M
Curr Opin Neurol 2018 Aug;31(4):484-490. doi: 10.1097/WCO.0000000000000577. PMID: 29952836
Moore DM, Rizzolo D
JAAPA 2018 Apr;31(4):18-22. doi: 10.1097/01.JAA.0000531044.72598.26. PMID: 29517619
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

Therapy

Bilbao A, Spanagel R
BMC Med 2022 Aug 19;20(1):259. doi: 10.1186/s12916-022-02459-1. PMID: 35982439Free PMC Article
Thomas SP, Addison AP, Curry DJ
Phys Med Rehabil Clin N Am 2020 Feb;31(1):91-105. Epub 2019 Nov 8 doi: 10.1016/j.pmr.2019.09.008. PMID: 31760996
Moore DM, Rizzolo D
JAAPA 2018 Apr;31(4):18-22. doi: 10.1097/01.JAA.0000531044.72598.26. PMID: 29517619
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

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
Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS
Mov Disord 2016 Jul;31(7):1033-40. Epub 2016 Apr 8 doi: 10.1002/mds.26598. PMID: 27061943Free PMC Article
Mali YP, Simon JW, Chaudhri I, Zobal-Ratner J, Barry GP
J Pediatr Ophthalmol Strabismus 2016 Jan-Feb;53(1):22-4. doi: 10.3928/01913913-20150929-18. PMID: 26835998

Clinical prediction guides

Comella CL, Jankovic J, Hauser RA, Patel AT, Banach MD, Ehler E, Vitarella D, Rubio RG, Gross TM; ASPEN-1 Study Group
Neurology 2024 Feb 27;102(4):e208091. Epub 2024 Jan 31 doi: 10.1212/WNL.0000000000208091. PMID: 38295339Free 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
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
Boelig RC, Barton SJ, Saccone G, Kelly AJ, Edwards SJ, Berghella V
Cochrane Database Syst Rev 2016 May 11;2016(5):CD010607. doi: 10.1002/14651858.CD010607.pub2. PMID: 27168518Free PMC Article

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