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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

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
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
Treatment of dystonia.
Jankovic J
Lancet Neurol 2006 Oct;5(10):864-72. doi: 10.1016/S1474-4422(06)70574-9. PMID: 16987733

Recent clinical studies

Etiology

'Atypical' Parkinson's disease - genetic.
Weissbach A, Wittke C, Kasten M, Klein C
Int Rev Neurobiol 2019;149:207-235. Epub 2019 Nov 25 doi: 10.1016/bs.irn.2019.10.011. PMID: 31779813
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
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: a widening spectrum.
Gordon N
Dev Med Child Neurol 1996 Jun;38(6):554-9. PMID: 8647336
Dopa-responsive dystonia.
Padma MV, Behari M, Ahuja GK
J Assoc Physicians India 1994 Jul;42(7):578-9. PMID: 7868536

Therapy

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.
Segawa M
Handb Clin Neurol 2011;100:539-57. doi: 10.1016/B978-0-444-52014-2.00039-2. PMID: 21496606
Dopa responsive dystonia.
Low K, Harding T, Jardine P
BMJ 2010 Mar 4;340:c668. doi: 10.1136/bmj.c668. PMID: 20203076
Dopa-responsive dystonia: a widening spectrum.
Gordon N
Dev Med Child Neurol 1996 Jun;38(6):554-9. PMID: 8647336
Dopa-responsive dystonia.
Padma MV, Behari M, Ahuja GK
J Assoc Physicians India 1994 Jul;42(7):578-9. PMID: 7868536

Prognosis

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
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

Clinical prediction guides

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
High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.
Hagenah J, Saunders-Pullman R, Hedrich K, Kabakci K, Habermann K, Wiegers K, Mohrmann K, Lohnau T, Raymond D, Vieregge P, Nygaard T, Ozelius LJ, Bressman SB, Klein C
Neurology 2005 Mar 8;64(5):908-11. doi: 10.1212/01.WNL.0000152839.50258.A2. PMID: 15753436
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
Thöny B, Blau N
Hum Mutat 1997;10(1):11-20. doi: 10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P. PMID: 9222755
Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.
Nygaard TG, Wilhelmsen KC, Risch NJ, Brown DL, Trugman JM, Gilliam TC, Fahn S, Weeks DE
Nat Genet 1993 Dec;5(4):386-91. doi: 10.1038/ng1293-386. PMID: 8298648

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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