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Myoclonus-dystonia syndrome

MedGen UID:
977133
•Concept ID:
CN295306
•
Disease or Syndrome
Synonyms: Alcohol-responsive dystonia; alcohol-responsive dystonia; dystonia 11; dystonia 11, myoclonic; dystonia with myoclonus; dystonia, alcohol responsive; dystonia, alcohol-responsive; dystonia-11, myoclonic; DYT-SGCE; DYT11; Hereditary essential myoclonus; hereditary essential myoclonus; Myoclonic dystonia; myoclonic dystonia; myoclonus, hereditary essential; myoclonus-Dystonia; myoclonus-dystonia; myoclonus-dystonia syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Related genes: KCTD17, SGCE
 
Monarch Initiative: MONDO:0000903
Orphanet: ORPHA36899

Definition

Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Deep brain stimulation for the treatment of hyperkinetic movement disorders.
di Biase L, Munhoz RP
Expert Rev Neurother 2016 Sep;16(9):1067-78. Epub 2016 Jun 10 doi: 10.1080/14737175.2016.1196139. PMID: 27254274
Treatment of myoclonus-dystonia syndrome with tetrabenazine.
Luciano AY, Jinnah HA, Pfeiffer RF, Truong DD, Nance MA, LeDoux MS
Parkinsonism Relat Disord 2014 Dec;20(12):1423-6. Epub 2014 Oct 5 doi: 10.1016/j.parkreldis.2014.09.029. PMID: 25406829Free PMC Article
Surgical treatment of myoclonus dystonia syndrome.
Rughani AI, Lozano AM
Mov Disord 2013 Mar;28(3):282-7. Epub 2013 Feb 7 doi: 10.1002/mds.25326. PMID: 23401150

Recent clinical studies

Etiology

Thalamus Stimulation for Myoclonus Dystonia Syndrome: Five Cases and Long-Term Follow-up.
Zhang YQ, Wang JW, Wang YP, Zhang XH, Li JP
World Neurosurg 2019 Feb;122:e933-e939. Epub 2018 Nov 10 doi: 10.1016/j.wneu.2018.10.177. PMID: 30419400
Deep brain stimulation for the treatment of hyperkinetic movement disorders.
di Biase L, Munhoz RP
Expert Rev Neurother 2016 Sep;16(9):1067-78. Epub 2016 Jun 10 doi: 10.1080/14737175.2016.1196139. PMID: 27254274
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
Peall KJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine PE, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR
J Neurol 2014 Dec;261(12):2296-304. Epub 2014 Sep 11 doi: 10.1007/s00415-014-7488-3. PMID: 25209853Free PMC Article
Myoclonus-dystonia syndrome.
Nardocci N
Handb Clin Neurol 2011;100:563-75. doi: 10.1016/B978-0-444-52014-2.00041-0. PMID: 21496608
The neurobiology of the dystrophin-associated glycoprotein complex.
Waite A, Tinsley CL, Locke M, Blake DJ
Ann Med 2009;41(5):344-59. doi: 10.1080/07853890802668522. PMID: 19172427

Diagnosis

Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Vanegas MI, Marcé-Grau A, Martí-Sánchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC, Pérez-Dueñas B
Parkinsonism Relat Disord 2020 Nov;80:165-174. Epub 2020 Sep 21 doi: 10.1016/j.parkreldis.2020.09.023. PMID: 33022436
Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).
Rachad L, El Kadmiri N, Slassi I, El Otmani H, Nadifi S
Mol Neurobiol 2017 Mar;54(2):939-942. Epub 2016 Jan 20 doi: 10.1007/s12035-016-9712-x. PMID: 26790671
Myoclonus.
Espay AJ, Chen R
Continuum (Minneap Minn) 2013 Oct;19(5 Movement Disorders):1264-86. doi: 10.1212/01.CON.0000436156.54532.1a. PMID: 24092290
Myoclonus-dystonia syndrome.
Nardocci N
Handb Clin Neurol 2011;100:563-75. doi: 10.1016/B978-0-444-52014-2.00041-0. PMID: 21496608
Inherited myoclonus-dystonia syndrome.
Gasser T
Adv Neurol 1998;78:325-34. PMID: 9750929

Therapy

Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up.
Fernández-Pajarín G, Sesar A, Relova JL, Ares B, Jiménez-Martín I, Blanco-Arias P, Gelabert-González M, Castro A
Acta Neurochir (Wien) 2016 Oct;158(10):2023-8. Epub 2016 Aug 17 doi: 10.1007/s00701-016-2904-3. PMID: 27531176
Treatment of myoclonus-dystonia syndrome with tetrabenazine.
Luciano AY, Jinnah HA, Pfeiffer RF, Truong DD, Nance MA, LeDoux MS
Parkinsonism Relat Disord 2014 Dec;20(12):1423-6. Epub 2014 Oct 5 doi: 10.1016/j.parkreldis.2014.09.029. PMID: 25406829Free PMC Article
Myoclonus.
Espay AJ, Chen R
Continuum (Minneap Minn) 2013 Oct;19(5 Movement Disorders):1264-86. doi: 10.1212/01.CON.0000436156.54532.1a. PMID: 24092290
Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene.
Misbahuddin A, Placzek M, Lennox G, Taanman JW, Warner TT
Mov Disord 2007 Jun 15;22(8):1173-5. doi: 10.1002/mds.21297. PMID: 17230465
Deep brain stimulation in myoclonus-dystonia syndrome.
Cif L, Valente EM, Hemm S, Coubes C, Vayssiere N, Serrat S, Di Giorgio A, Coubes P
Mov Disord 2004 Jun;19(6):724-7. doi: 10.1002/mds.20030. PMID: 15197720

Prognosis

Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data.
Wang X, Yu X
Neurosurg Rev 2021 Feb;44(1):451-462. Epub 2020 Jan 3 doi: 10.1007/s10143-019-01233-x. PMID: 31900736
Thalamus Stimulation for Myoclonus Dystonia Syndrome: Five Cases and Long-Term Follow-up.
Zhang YQ, Wang JW, Wang YP, Zhang XH, Li JP
World Neurosurg 2019 Feb;122:e933-e939. Epub 2018 Nov 10 doi: 10.1016/j.wneu.2018.10.177. PMID: 30419400
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
Peall KJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine PE, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR
J Neurol 2014 Dec;261(12):2296-304. Epub 2014 Sep 11 doi: 10.1007/s00415-014-7488-3. PMID: 25209853Free PMC Article
Myoclonus-dystonia syndrome.
Nardocci N
Handb Clin Neurol 2011;100:563-75. doi: 10.1016/B978-0-444-52014-2.00041-0. PMID: 21496608
Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene.
Misbahuddin A, Placzek M, Lennox G, Taanman JW, Warner TT
Mov Disord 2007 Jun 15;22(8):1173-5. doi: 10.1002/mds.21297. PMID: 17230465

Clinical prediction guides

Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data.
Wang X, Yu X
Neurosurg Rev 2021 Feb;44(1):451-462. Epub 2020 Jan 3 doi: 10.1007/s10143-019-01233-x. PMID: 31900736
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Vanegas MI, Marcé-Grau A, Martí-Sánchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC, Pérez-Dueñas B
Parkinsonism Relat Disord 2020 Nov;80:165-174. Epub 2020 Sep 21 doi: 10.1016/j.parkreldis.2020.09.023. PMID: 33022436
Thalamus Stimulation for Myoclonus Dystonia Syndrome: Five Cases and Long-Term Follow-up.
Zhang YQ, Wang JW, Wang YP, Zhang XH, Li JP
World Neurosurg 2019 Feb;122:e933-e939. Epub 2018 Nov 10 doi: 10.1016/j.wneu.2018.10.177. PMID: 30419400
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
Peall KJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine PE, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR
J Neurol 2014 Dec;261(12):2296-304. Epub 2014 Sep 11 doi: 10.1007/s00415-014-7488-3. PMID: 25209853Free PMC Article
Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families.
Asmus F, Zimprich A, Naumann M, Berg D, Bertram M, Ceballos-Baumann A, Pruszak-Seel R, Kabus C, Dichgans M, Fuchs S, Müller-Myhsok B, Gasser T
Ann Neurol 2001 Jan;49(1):121-4. doi: 10.1002/1531-8249(200101)49:1<121::aid-ana20>3.0.co;2-8. PMID: 11198282

Recent systematic reviews

Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data.
Wang X, Yu X
Neurosurg Rev 2021 Feb;44(1):451-462. Epub 2020 Jan 3 doi: 10.1007/s10143-019-01233-x. PMID: 31900736

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