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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Abnormal posturing
MedGen UID:
66660
•Concept ID:
C0231471
•
Finding
Involuntary flexion or extension of the arms and legs.
See: Feature record | Search on this feature
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.
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
Generalized dystonia
MedGen UID:
341342
•Concept ID:
C1848954
•
Finding
A type of dystonia that affects all or most of the body.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Weak voice
MedGen UID:
66033
•Concept ID:
C0241700
•
Finding
Reduced intensity (volume) of speech.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

European clinical guidelines for Tourette syndrome and other tic disorders-version 2.0. Part I: assessment.
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
Consensus guidelines for botulinum toxin therapy: general algorithms and dosing tables for dystonia and spasticity.
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
Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia.
Gerrits MC, Foncke EM, de Haan R, Hedrich K, van de Leemput YL, Baas F, Ozelius LJ, Speelman JD, Klein C, Tijssen MA
Neurology 2006 Mar 14;66(5):759-61. doi: 10.1212/01.wnl.0000201192.66467.a3. PMID: 16534121

Recent clinical studies

Etiology

Medical cannabinoids: a pharmacology-based systematic review and meta-analysis for all relevant medical indications.
Bilbao A, Spanagel R
BMC Med 2022 Aug 19;20(1):259. doi: 10.1186/s12916-022-02459-1. PMID: 35982439Free PMC Article
Intravenous Haloperidol Versus Ondansetron for Cannabis Hyperemesis Syndrome (HaVOC): A Randomized, Controlled Trial.
Ruberto AJ, Sivilotti MLA, Forrester S, Hall AK, Crawford FM, Day AG
Ann Emerg Med 2021 Jun;77(6):613-619. Epub 2020 Nov 5 doi: 10.1016/j.annemergmed.2020.08.021. PMID: 33160719
A randomized controlled study on the efficiency of soft tissue mobilization in babies with congenital muscular torticollis.
Keklicek H, Uygur F
J Back Musculoskelet Rehabil 2018;31(2):315-321. doi: 10.3233/BMR-169746. PMID: 28946532
Paroxysmal sympathetic hyperactivity after acquired brain injury: consensus on conceptual definition, nomenclature, and diagnostic criteria.
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
Attenuated variants of Lesch-Nyhan disease.
Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG; Lesch-Nyhan Disease International Study Group
Brain 2010 Mar;133(Pt 3):671-89. Epub 2010 Feb 22 doi: 10.1093/brain/awq013. PMID: 20176575Free PMC Article

Diagnosis

IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
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
Intravenous Haloperidol Versus Ondansetron for Cannabis Hyperemesis Syndrome (HaVOC): A Randomized, Controlled Trial.
Ruberto AJ, Sivilotti MLA, Forrester S, Hall AK, Crawford FM, Day AG
Ann Emerg Med 2021 Jun;77(6):613-619. Epub 2020 Nov 5 doi: 10.1016/j.annemergmed.2020.08.021. PMID: 33160719
Sandifer syndrome.
Moore DM, Rizzolo D
JAAPA 2018 Apr;31(4):18-22. doi: 10.1097/01.JAA.0000531044.72598.26. PMID: 29517619
Paroxysmal sympathetic hyperactivity after acquired brain injury: consensus on conceptual definition, nomenclature, and diagnostic criteria.
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
Attenuated variants of Lesch-Nyhan disease.
Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG; Lesch-Nyhan Disease International Study Group
Brain 2010 Mar;133(Pt 3):671-89. Epub 2010 Feb 22 doi: 10.1093/brain/awq013. PMID: 20176575Free PMC Article

Therapy

Intravenous Haloperidol Versus Ondansetron for Cannabis Hyperemesis Syndrome (HaVOC): A Randomized, Controlled Trial.
Ruberto AJ, Sivilotti MLA, Forrester S, Hall AK, Crawford FM, Day AG
Ann Emerg Med 2021 Jun;77(6):613-619. Epub 2020 Nov 5 doi: 10.1016/j.annemergmed.2020.08.021. PMID: 33160719
Surgical Tone Reduction in Cerebral Palsy.
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
Sandifer syndrome.
Moore DM, Rizzolo D
JAAPA 2018 Apr;31(4):18-22. doi: 10.1097/01.JAA.0000531044.72598.26. PMID: 29517619
A randomized controlled study on the efficiency of soft tissue mobilization in babies with congenital muscular torticollis.
Keklicek H, Uygur F
J Back Musculoskelet Rehabil 2018;31(2):315-321. doi: 10.3233/BMR-169746. PMID: 28946532
Conversion Ratio between Botox®, Dysport®, and Xeomin® in Clinical Practice.
Scaglione F
Toxins (Basel) 2016 Mar 4;8(3) doi: 10.3390/toxins8030065. PMID: 26959061Free PMC Article

Prognosis

The Collicular-Pulvinar-Amygdala Axis and Adult-Onset Idiopathic Focal Dystonias.
Rafee S, Hutchinson M, Reilly R
Adv Neurobiol 2023;31:195-210. doi: 10.1007/978-3-031-26220-3_11. PMID: 37338703
Medical Cannabis in the Treatment of Parkinson's Disease.
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
Monogenic variants in dystonia: an exome-wide sequencing study.
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
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.
Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F
Parkinsonism Relat Disord 2019 Dec;69:99-103. Epub 2019 Oct 13 doi: 10.1016/j.parkreldis.2019.10.007. PMID: 31726291
Episodic Excessive Blinking in Children.
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

Episignature analysis of moderate effects and mosaics.
Oexle K, Zech M, Stühn LG, Siegert S, Brunet T, Schmidt WM, Wagner M, Schmidt A, Engels H, Tilch E, Monestier O, Destrėe A, Hanker B, Boesch S, Jech R, Berutti R, Kaiser F, Haslinger B, Haack TB, Garavaglia B, Krawitz P, Winkelmann J, Mirza-Schreiber N
Eur J Hum Genet 2023 Sep;31(9):1032-1039. Epub 2023 Jun 26 doi: 10.1038/s41431-023-01406-9. PMID: 37365401Free PMC Article
The Collicular-Pulvinar-Amygdala Axis and Adult-Onset Idiopathic Focal Dystonias.
Rafee S, Hutchinson M, Reilly R
Adv Neurobiol 2023;31:195-210. doi: 10.1007/978-3-031-26220-3_11. PMID: 37338703
Monogenic variants in dystonia: an exome-wide sequencing study.
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
Management of oromandibular dystonia with botulinum A toxin: a series of cases.
Teemul TA, Patel R, Kanatas A, Carter LM
Br J Oral Maxillofac Surg 2016 Dec;54(10):1080-1084. Epub 2016 Oct 21 doi: 10.1016/j.bjoms.2016.06.028. PMID: 27776922
Recommendations for optimal ICD codes to study neurologic conditions: a systematic review.
St Germaine-Smith C, Metcalfe A, Pringsheim T, Roberts JI, Beck CA, Hemmelgarn BR, McChesney J, Quan H, Jette N
Neurology 2012 Sep 4;79(10):1049-55. Epub 2012 Aug 22 doi: 10.1212/WNL.0b013e3182684707. PMID: 22914826Free PMC Article

Recent systematic reviews

Medical cannabinoids: a pharmacology-based systematic review and meta-analysis for all relevant medical indications.
Bilbao A, Spanagel R
BMC Med 2022 Aug 19;20(1):259. doi: 10.1186/s12916-022-02459-1. PMID: 35982439Free PMC Article
The Effectiveness and Safety of Botulinum Toxin Injections for the Treatment of Congenital Muscular Torticollis.
Qiu X, Cui Z, Tang G, Deng H, Xiong Z, Han S, Tang S
J Craniofac Surg 2020 Nov/Dec;31(8):2160-2166. doi: 10.1097/SCS.0000000000006652. PMID: 33136847
The effectiveness and safety of conservative interventions for positional plagiocephaly and congenital muscular torticollis: a synthesis of systematic reviews and guidance.
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
Interventions for treating hyperemesis gravidarum: a Cochrane systematic review and meta-analysis.
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
Recommendations for optimal ICD codes to study neurologic conditions: a systematic review.
St Germaine-Smith C, Metcalfe A, Pringsheim T, Roberts JI, Beck CA, Hemmelgarn BR, McChesney J, Quan H, Jette N
Neurology 2012 Sep 4;79(10):1049-55. Epub 2012 Aug 22 doi: 10.1212/WNL.0b013e3182684707. PMID: 22914826Free PMC Article

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed

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