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Dopa-responsive dystonia

MedGen UID:
808180
•Concept ID:
CN221588
•
Disease or Syndrome
Synonyms: dopa-responsive dystonia; DYT-GCH1 (subtype); DYT-SPR (subtype); DYT-TH (subtype); DYT5; DYT5 dystonia; Hereditary progressive dystonia with diurnal fluctuation; hereditary progressive dystonia with diurnal fluctuation; HPD with diurnal fluctuation; Segawa's disease
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
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 recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Related genes: TH, SPR, GCH1
 
Monarch Initiative: MONDO:0016812
Orphanet: ORPHA255

Definition

Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency. [from ORDO]

Professional guidelines

PubMed

Treatment of Dystonia: Medications, Neurotoxins, Neuromodulation, and Rehabilitation.
Bledsoe IO, Viser AC, San Luciano M
Neurotherapeutics 2020 Oct;17(4):1622-1644. Epub 2020 Oct 23 doi: 10.1007/s13311-020-00944-0. PMID: 33095402Free PMC Article
Differential diagnosis of Parkinson's disease and other neurodegenerative disorders.
Koh J, Ito H
Nihon Rinsho 2017 Jan;75(1):56-62. PMID: 30566295
Clinical Management of Dystonia in Childhood.
Luc QN, Querubin J
Paediatr Drugs 2017 Oct;19(5):447-461. doi: 10.1007/s40272-017-0243-3. PMID: 28620849

Recent clinical studies

Etiology

Dopa-responsive dystonia--clinical and genetic heterogeneity.
Wijemanne S, Jankovic J
Nat Rev Neurol 2015 Jul;11(7):414-24. Epub 2015 Jun 23 doi: 10.1038/nrneurol.2015.86. PMID: 26100751
Progressive dystonia.
Klein C, Münchau A
Handb Clin Neurol 2013;113:1889-97. doi: 10.1016/B978-0-444-59565-2.00059-9. PMID: 23622412
Myoclonus-dystonia syndrome.
Nardocci N
Handb Clin Neurol 2011;100:563-75. doi: 10.1016/B978-0-444-52014-2.00041-0. PMID: 21496608
Nonprimary dystonias.
Dressler D
Handb Clin Neurol 2011;100:513-38. doi: 10.1016/B978-0-444-52014-2.00038-0. PMID: 21496605
Dystonia-plus syndromes.
Asmus F, Gasser T
Eur J Neurol 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. PMID: 20590807

Diagnosis

A Practical Approach to Early-Onset Parkinsonism.
Riboldi GM, Frattini E, Monfrini E, Frucht SJ, Di Fonzo A
J Parkinsons Dis 2022;12(1):1-26. doi: 10.3233/JPD-212815. PMID: 34569973Free PMC Article
Dopa-responsive dystonia.
Randby H, Salvador CL, Oppebøen M, Skogseid IM, Koht J
Tidsskr Nor Laegeforen 2018 Nov 27;138(19) Epub 2018 Nov 26 doi: 10.4045/tidsskr.17.0595. PMID: 30497245
Progressive dystonia.
Klein C, Münchau A
Handb Clin Neurol 2013;113:1889-97. doi: 10.1016/B978-0-444-59565-2.00059-9. PMID: 23622412
Myoclonus-dystonia syndrome.
Nardocci N
Handb Clin Neurol 2011;100:563-75. doi: 10.1016/B978-0-444-52014-2.00041-0. PMID: 21496608
Dopa-responsive dystonia.
Segawa M
Handb Clin Neurol 2011;100:539-57. doi: 10.1016/B978-0-444-52014-2.00039-2. PMID: 21496606

Therapy

Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.
Cherian A, Paramasivan NK, Divya KP
Acta Neurol Belg 2021 Jun;121(3):613-623. Epub 2021 Jan 16 doi: 10.1007/s13760-020-01574-1. PMID: 33453040
Dopa-responsive dystonia.
Randby H, Salvador CL, Oppebøen M, Skogseid IM, Koht J
Tidsskr Nor Laegeforen 2018 Nov 27;138(19) Epub 2018 Nov 26 doi: 10.4045/tidsskr.17.0595. PMID: 30497245
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Wijemanne S, Jankovic J
Nat Rev Neurol 2015 Jul;11(7):414-24. Epub 2015 Jun 23 doi: 10.1038/nrneurol.2015.86. PMID: 26100751
Dopa-responsive dystonia.
Segawa M
Handb Clin Neurol 2011;100:539-57. doi: 10.1016/B978-0-444-52014-2.00039-2. PMID: 21496606
Dopa-responsive dystonia.
Nygaard TG
Curr Opin Neurol 1995 Aug;8(4):310-3. doi: 10.1097/00019052-199508000-00011. PMID: 7582048

Prognosis

Progressive dystonia.
Klein C, Münchau A
Handb Clin Neurol 2013;113:1889-97. doi: 10.1016/B978-0-444-59565-2.00059-9. PMID: 23622412
Myoclonus-dystonia syndrome.
Nardocci N
Handb Clin Neurol 2011;100:563-75. doi: 10.1016/B978-0-444-52014-2.00041-0. PMID: 21496608
Dopa-responsive dystonia.
Segawa M
Handb Clin Neurol 2011;100:539-57. doi: 10.1016/B978-0-444-52014-2.00039-2. PMID: 21496606
Dystonia-plus syndromes.
Asmus F, Gasser T
Eur J Neurol 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. PMID: 20590807
Dopa-responsive dystonia: recent advances and remaining issues to be addressed.
Furukawa Y, Kish SJ
Mov Disord 1999 Sep;14(5):709-15. doi: 10.1002/1531-8257(199909)14:5<709::aid-mds1001>3.0.co;2-t. PMID: 10495030

Clinical prediction guides

Molecular and metabolic bases of tetrahydrobiopterin (BH(4)) deficiencies.
Himmelreich N, Blau N, Thöny B
Mol Genet Metab 2021 Jun;133(2):123-136. Epub 2021 Apr 19 doi: 10.1016/j.ymgme.2021.04.003. PMID: 33903016
GCH1 mutations in hereditary spastic paraplegia.
Varghaei P, Yoon G, Estiar MA, Veyron S, Leveille E, Dupré N, Trempe JF, Rouleau GA, Gan-Or Z
Clin Genet 2021 Jul;100(1):51-58. Epub 2021 Mar 18 doi: 10.1111/cge.13955. PMID: 33713342
Non-motor symptoms and quality of life in dopa-responsive dystonia patients.
Timmers ER, Kuiper A, Smit M, Bartels AL, Kamphuis DJ, Wolf NI, Poll-The BT, Wassenberg T, Peeters EAJ, de Koning TJ, Tijssen MAJ
Parkinsonism Relat Disord 2017 Dec;45:57-62. Epub 2017 Oct 10 doi: 10.1016/j.parkreldis.2017.10.005. PMID: 29066160
Transcranial sonography in dopa-responsive dystonia.
Svetel M, Tomić A, Mijajlović M, Dobričić V, Novaković I, Pekmezović T, Brajković L, Kostić VS
Eur J Neurol 2017 Jan;24(1):161-166. Epub 2016 Oct 12 doi: 10.1111/ene.13172. PMID: 27731537
Dystonia-plus syndromes.
Asmus F, Gasser T
Eur J Neurol 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. PMID: 20590807

Recent systematic reviews

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.
Novelli M, Tolve M, Quiroz V, Carducci C, Bove R, Ricciardi G, Yang K, Manti F, Pisani F, Ebrahimi-Fakhari D, Galosi S, Leuzzi V
Mov Disord Clin Pract 2024 Sep;11(9):1072-1084. Epub 2024 Jul 12 doi: 10.1002/mdc3.14157. PMID: 39001623Free PMC Article
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz HJ, König IR, Klein C, Lohmann K
Mov Disord 2022 Feb;37(2):237-252. Epub 2021 Dec 15 doi: 10.1002/mds.28874. PMID: 34908184
Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs.
Kim W, Cho JS, Shim YK, Ko YJ, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Kim MJ, Seong MW, Chae JH
Brain Dev 2021 Aug;43(7):759-767. Epub 2021 Apr 17 doi: 10.1016/j.braindev.2021.02.006. PMID: 33875303
Sleep in patients with primary dystonia: A systematic review on the state of research and perspectives.
Hertenstein E, Tang NK, Bernstein CJ, Nissen C, Underwood MR, Sandhu HK
Sleep Med Rev 2016 Apr;26:95-107. Epub 2015 May 9 doi: 10.1016/j.smrv.2015.04.004. PMID: 26164369
The treatment of dystonic tremor: a systematic review.
Fasano A, Bove F, Lang AE
J Neurol Neurosurg Psychiatry 2014 Jul;85(7):759-69. Epub 2013 Oct 28 doi: 10.1136/jnnp-2013-305532. PMID: 24167042

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