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Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive

MedGen UID:
1003455
•Concept ID:
CN322657
•
Disease or Syndrome
Synonym: dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
 
Monarch Initiative: MONDO:0100098

Definition

A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia. [from MONDO]

Professional guidelines

PubMed

Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ
Orphanet J Rare Dis 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. PMID: 29025426Free PMC Article
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

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
Phenylalanine hydroxylase deficiency.
Mitchell JJ, Trakadis YJ, Scriver CR
Genet Med 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. PMID: 21555948
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

Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA
Hum Genomics 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. PMID: 35854334Free PMC Article
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
Phenylketonuria.
van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM
Nat Rev Dis Primers 2021 May 20;7(1):36. doi: 10.1038/s41572-021-00267-0. PMID: 34017006Free PMC Article
PKU dietary handbook to accompany PKU guidelines.
MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ
Orphanet J Rare Dis 2020 Jun 30;15(1):171. doi: 10.1186/s13023-020-01391-y. PMID: 32605583Free PMC Article
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ
Orphanet J Rare Dis 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. PMID: 29025426Free PMC Article

Therapy

Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA
Hum Genomics 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. PMID: 35854334Free PMC Article
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
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
Phenylalanine hydroxylase deficiency.
Mitchell JJ, Trakadis YJ, Scriver CR
Genet Med 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. PMID: 21555948
Dopa-responsive dystonia.
Segawa M
Handb Clin Neurol 2011;100:539-57. doi: 10.1016/B978-0-444-52014-2.00039-2. PMID: 21496606

Prognosis

The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N
Am J Hum Genet 2020 Aug 6;107(2):234-250. Epub 2020 Jul 14 doi: 10.1016/j.ajhg.2020.06.006. PMID: 32668217Free PMC Article
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

Carriers of autosomal recessive conditions: are they really 'unaffected?'.
Hames A, Khan S, Gilliland C, Goldman L, Lo HW, Magda K, Keathley J
J Med Genet 2023 Dec 21;61(1):1-7. doi: 10.1136/jmg-2023-109563. PMID: 37775265
Recommendations on phenylketonuria in Turkey.
Coşkun T, Çoker M, Mungan NÖ, Özel HG, Sivri HS
Turk J Pediatr 2022;64(3):413-434. doi: 10.24953/turkjped.2021.4098. PMID: 35899555
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N
Am J Hum Genet 2020 Aug 6;107(2):234-250. Epub 2020 Jul 14 doi: 10.1016/j.ajhg.2020.06.006. PMID: 32668217Free PMC Article
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

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
Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis.
Shokri M, Karimi P, Zamanifar H, Kazemi F, Badfar G, Azami M
BMC Pediatr 2020 Jul 24;20(1):352. doi: 10.1186/s12887-020-02230-6. PMID: 32703178Free PMC Article
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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