Evaluation of infantile dystonia

van Egmond ME, Kuiper A, Eggink H, et al. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):774-81.Full text  Abstract

American Academy for Cerebral Palsy and Developmental Medicine. Dystonia in cerebral palsy. September 2016 [internet publication].Full text

1. Fahn S, Bressman SB, Marsden CD. Classification of dystonia. Adv Neurol. 1998;78:1-10. Abstract

2. Wirth T, Tranchant C, Drouot N, et al. Increased diagnostic yield in complex dystonia through exome sequencing. Parkinsonism Relat Disord. 2020 May;74:50-6. Abstract

3. Holla VV, Neeraja K, Stezin A, et al. Utility of clinical exome sequencing in dystonia: a single-center study from India. J Mov Disord. 2022 May;15(2):156-61.Full text  Abstract

4. Geyer HL, Bressman SB. The diagnosis of dystonia. Lancet Neurol. 2006 Sep;5(9):780-90. Abstract

5. Obese JA. General concepts. In: Fernández-Alvarez E, Aicardi J, eds. Movement disorders in children. London: Mac Keith Press; 2001:1-23.

6. Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013 Jun 15;28(7):863-73.Full text  Abstract

7. van Egmond ME, Kuiper A, Eggink H, et al. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):774-81.Full text  Abstract

8. Sanger TD. Pathophysiology of pediatric movement disorders. J Child Neurol. 2003 Sep;18 Suppl 1:S9-24. Abstract

9. Kamal N, Bhat DP, Carrick E. Dopa-responsive dystonia (Segawa syndrome). Indian Pediatr. 2006 Jul;43(7):635-8.Full text  Abstract

10. Jan MM. Misdiagnosis in children with dopa-responsive dystonia. Pediatr Neurol. 2004 Oct;31(4):298-303. Abstract

11. Mink JW. Functional anatomy of the basal ganglia. In: Stacy MA, ed. Handbook of dystonia. New York, NY: Informa Healthcare; 2012.

12. Marras C, Lang A, van de Warrenburg BP, et al. Nomenclature of genetic movement disorders: recommendations of the International Parkinson And Movement Disorder Society task force. Mov Disord. 2016 Apr;31(4):436-57. Abstract

13. Lange LM, Gonzalez-Latapi P, Rajalingam R, et al. Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society task force - an update. Mov Disord. 2022 May;37(5):905-35.Full text  Abstract

14. Balint B, Bhatia KP. Isolated and combined dystonia syndromes - an update on new genes and their phenotypes. Eur J Neurol. 2015 Apr;22(4):610-7. Abstract

15. Ozelius L, Kramer PL, Moskowitz CB, et al. Human gene torsin dystonia located on chromosome 9q32-q34. Neuron. 1989 May;2(5):1427-34. Abstract

16. Rostasy K, Augood SJ, Hewett JW, et al. TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol Dis. 2003 Feb;12(1):11-24. Abstract

17. Asmus F, Langseth A, Doherty E, et al. "Jerky" dystonia in children: spectrum of phenotypes and genetic testing. Mov Disord. 2009 Apr 15;24(5):702-9. Abstract

18. Müller B, Hedrich K, Kock N, et al. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet. 2002 Dec;71(6):1303-11.Full text  Abstract

19. Chen DH, Méneret A, Friedman JR, et al. ADCY5-related dyskinesia: broader spectrum and genotype-phenotype correlations. Neurology. 2015 Dec 8;85(23):2026-35.Full text  Abstract

20. Heinzen EL, Swoboda KJ, Hitomi Y, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Sep;44(9):1030-4.Full text  Abstract

21. Brashear A, Mink JW, Hill DF, et al. ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. Dev Med Child Neurol. 2012 Nov;54(11):1065-7.Full text  Abstract

22. Sweney MT, Silver K, Gerard-Blanluet M, et al. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome. Pediatrics. 2009 Mar;123(3):e534-41. Abstract

23. Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain. 2011 Dec;134(Pt 12):3493-501.Full text  Abstract

24. Ebrahimi-Fakhari D, Saffari A, Westenberger A, et al. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain. 2015 Dec;138(Pt 12):3476-95.Full text  Abstract

25. Gardiner AR, Jaffer F, Dale RC, et al. The clinical and genetic heterogeneity of paroxysmal dyskinesias. Brain. 2015 Dec;138(Pt 12):3567-80.Full text  Abstract

26. Bruno MK, Lee HY, Auburger GW, et al. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology. 2007 May 22;68(21):1782-9. Abstract

27. Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain. 2008 Jul;131(Pt 7):1831-44.Full text  Abstract

28. Pearl PL, Capp PK, Novotny EJ, et al. Inherited disorders of neurotransmitters in children and adults. Clin Biochem. 2005 Dec;38(12):1051-8. Abstract

29. Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet. 1994 Nov;8(3):236-42. Abstract

30. Ludecke B, Dworniczak B, Bartholome K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet. 1995 Jan;95(1):123-5. Abstract

31. Pearson TS, Gupta N, San Sebastian W, et al. Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons. Nat Commun. 2021 Jul 12;12(1):4251.Full text  Abstract

32. Tai CH, Lee NC, Chien YH, et al. Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency. Mol Ther. 2022 Feb 2;30(2):509-18.Full text  Abstract

33. Keam SJ. Eladocagene exuparvovec: first approval. Drugs. 2022 Sep;82(13):1427-32. Abstract

34. Kurian MA, Zhen J, Cheng S-Y, et al. Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. J Clin Invest. 2009 Jun;119(6):1595-603.Full text  Abstract

35. Kurian MA, Li Y, Zhen J, et al. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol. 2011 Jan;10(1):54-62.Full text  Abstract

36. Rilstone JJ, Alkhater RA, Minassian BA. Brain dopamine-serotonin vesicular transport disease and its treatment. N Engl J Med. 2013 Feb 7;368(6):543-50.Full text  Abstract

37. Jacobsen JC, Wilson C, Cunningham V, et al. Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder. J Inherit Metab Dis. 2016 Mar;39(2):305-8. Abstract

38. Rath M, Korenke GC, Najm J, et al. Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease. J Neurol Sci. 2017 Aug 15;379:296-7. Abstract

39. Kuiper A, Eggink H, Tijssen MA, et al. Neurometabolic disorders are treatable causes of dystonia. Rev Neurol (Paris). 2016 Aug - Sep;172(8-9):455-64. Abstract

40. Boy N, Mühlhausen C, Maier EM, et al. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis. 2017 Jan;40(1):75-101. Abstract

41. Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006 May;129(Pt 5):1201-17.Full text  Abstract

42. Tanji K, Kunimatsu T, Vu TH, et al. Neuropathological features of mitochondrial disorders. Semin Cell Dev Biol. 2001 Dec;12(6):429-39. Abstract

43. Heimer G, Kerätär JM, Riley LG, et al. MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder. Am J Hum Genet. 2016 Dec 1;99(6):1229-44.Full text  Abstract

44. Schwartz CE, May MM, Carpenter NJ, et al. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet. 2005 Jul;77(1):41-53.Full text  Abstract

45. Stockler-Ipsiroglu S, van Karnebeek CD. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders. Semin Neurol. 2014 Jul;34(3):350-6. Abstract

46. Alfadhel M, Tabarki B. SLC19A3 gene defects sorting the phenotype and acronyms: review. Neuropediatrics. 2018 Apr;49(2):83-92. Abstract

47. Ebrahimi-Fakhari D, Hildebrandt C, Davis PE, et al. The spectrum of movement disorders in childhood-onset lysosomal storage diseases. Mov Disord Clin Pract. 2018 Mar-Apr;5(2):149-55.Full text  Abstract

48. Mignot C, Doummar D, Maire I, et al. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev. 2006 Jan;28(1):39-48. Abstract

49. Schneider SA, Dusek P, Hardy J, et al. Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA). Curr Neuropharmacol. 2013 Jan;11(1):59-79.Full text  Abstract

50. Lee JH, Yun JY, Gregory A, et al. Brain MRI pattern recognition in neurodegeneration with brain iron accumulation. Front Neurol. 2020 Sep 10;11:1024.Full text  Abstract

51. Quadri M, Federico A, Zhao T, et al. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet. 2012 Mar 9;90(3):467-77.Full text  Abstract

52. Tuschl K, Clayton PT, Gospe SM Jr, et al. Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. Am J Hum Genet. 2012 Mar 9;90(3):457-66.Full text  Abstract

53. Tuschl K, Meyer E, Valdivia LE, et al. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun. 2016 May 27;7:11601.Full text  Abstract

54. Simons C, Wolf NI, McNeil N, et al. A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet. 2013 May 2;92(5):767-73.Full text  Abstract

55. Simons C, Griffin LB, Helman G, et al. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. Am J Hum Genet. 2015 Apr 2;96(4):675-81.Full text  Abstract

56. Cacciagli P, Sutera-Sardo J, Borges-Correia A, et al. Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus. Am J Hum Genet. 2013 Sep 5;93(3):579-86.Full text  Abstract

57. Livingston JH, Crow YJ. Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières syndrome and beyond. Neuropediatrics. 2016 Dec;47(6):355-60. Abstract

58. Cetin Gedik K, Lamot L, Romano M, et al. The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS. Ann Rheum Dis. 2022 May;81(5):601-13.Full text  Abstract

59. Rice G, Patrick T, Parmar R, et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Oct;81(4):713-25.Full text  Abstract

60. Grosso S, Lasorella G, Russo A, et al. Aicardi syndrome with favorable outcome: case report and review. Brain Dev. 2007 Aug;29(7):443-6. Abstract

61. Vanderver A, Prust M, Kadom N, et al. Early-onset Aicardi-Goutières syndrome: magnetic resonance imaging (MRI) pattern recognition. J Child Neurol. 2015 Sep;30(10):1343-8.Full text  Abstract

62. Østergaard JR, Christensen T. Aicardi-Goutieres syndrome: neuroradiological findings after nine years of follow-up. Eur J Paediatr Neurol. 2004;8(5):243-6. Abstract

63. Aicardi J, Goutieres F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984 Jan;15(1):49-54. Abstract

64. Goutieres F. Aicardi-Goutieres syndrome. Brain Dev. 2005 Apr;27(3):201-6. Abstract

65. Edvardson S, Tian G, Cullen H, et al. Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway. Hum Mol Genet. 2016 Nov 1;25(21):4635-48.Full text  Abstract

66. Lenk GM, Szymanska K, Debska-Vielhaber G, et al. Biallelic mutations of VAC14 in pediatric-onset neurological disease. Am J Hum Genet. 2016 Jul 7;99(1):188-94.Full text  Abstract

67. Kato M, Das S, Petras K, et al. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004 Feb;23(2):147-59. Abstract

68. Guerrini R, Moro F, Kato M, et al. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 2007 Jul 31;69(5):427-33. Abstract

69. Zech M, Boesch S, Maier EM, et al. Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia. Am J Hum Genet. 2016 Dec 1;99(6):1377-87.Full text  Abstract

70. Meyer E, Carss KJ, Rankin J, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017 Feb;49(2):223-37. Abstract

71. Gorman KM, Meyer E, Kurian MA. Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. Eur J Paediatr Neurol. 2018 Mar;22(2):245-56. Abstract

72. Ananth AL, Robichaux-Viehoever A, Kim YM, et al. Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder. Pediatr Neurol. 2016 Jun;59:81-4. Abstract

73. Danti FR, Galosi S, Romani M, et al. GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome. Neurol Genet. 2017 Mar 21;3(2):e143.Full text  Abstract

74. Kortüm F, Das S, Flindt M, et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Jun;48(6):396-406.Full text  Abstract

75. Ohba C, Shiina M, Tohyama J, et al. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. Epilepsia. 2015 Jun;56(6):841-8.Full text  Abstract

76. Hankø E, Hansen TW, Almaas R, et al. Bilirubin induces apoptosis and necrosis in human NT2-N neurons. Pediatr Res. 2005 Feb;57(2):179-84. Abstract

77. van der Linden H, Silveira-Moriyama L, van der Linden V, et al. Movement disorders in children with congenital Zika virus syndrome. Brain Dev. 2020 Nov;42(10):720-9. Abstract

78. Mohammad SS, Fung VS, Grattan-Smith P, et al. Movement disorders in children with anti-NMDAR encephalitis and other autoimmune encephalopathies. Mov Disord. 2014 Oct;29(12):1539-42. Abstract

79. American Academy for Cerebral Palsy and Developmental Medicine. Dystonia in cerebral palsy. September 2016 [internet publication].Full text

80. Moreno-De-Luca A, Millan F, Pesacreta DR, et al. Molecular diagnostic yield of exome sequencing in patients with cerebral palsy. JAMA. 2021 Feb 2;325(5):467-75.Full text  Abstract

81. Bredenkamp JK, Maceri DR. Inflammatory torticollis in children. Arch Otolaryngol Head Neck Surg. 1990 Mar;116(3):310-3. Abstract

82. Queensland Ambulance Service. Clinical practice guidelines: medical/acute dystonic reaction. 2020 [internet publication].Full text

83. Dressler D, Benecke R. Diagnosis and management of acute movement disorders. J Neurol. 2005 Nov;252(11):1299-306. Abstract

84. Bergman I, Steeves M, Burckart G, et al. Reversible neurologic abnormalities associated with prolonged intravenous midazolam and fentanyl administration. J Pediatr. 1991 Oct;119(4):644-9. Abstract

85. Beltran RS, Coker SB. Transient dystonia of infancy, a result of intrauterine cocaine exposure? Pediatr Neurol. 1995 May;12(4):354-6. Abstract

86. Gokhale SG, Panchakshari MB. Maternal medication causing drug dystonia in a newborn: placental transfer of drugs. J Matern Fetal Neonatal Med. 2004 Oct;16(4):215-7. Abstract

87. Shafrir Y, Levy Y, Beharab A, et al. Acute dystonic reaction to bethanechol: a direct acetylcholine receptor agonist. Dev Med Child Neurol. 1986 Oct;28(5):646-8. Abstract

88. Howrie DL, Rowley AH, Krenzelok EP. Benztropine-induced acute dystonic reaction. Ann Emerg Med. 1986 May;15(5):594-6. Abstract

89. Shafrir Y, Levy Y, Steinherz R. Acute dystonic reaction due to domperidone in an infant [in Hebrew]. Harefuah. 1986 Mar 2;110(5):237-8. Abstract

90. Hibbs AM, Lorch SA. Metoclopramide for the treatment of gastroesophageal reflux disease in infants: a systematic review. Pediatrics. 2006 Aug;118(2):746-52. Abstract

91. Meija NI, Jankovic J. Metoclopramide-induced tardive dyskinesia in an infant. Mov Disord. 2005 Jan;20(1):86-9. Abstract

92. Angelini L, Zorzi G, Rumi V, et al. Transient paroxysmal dystonia in an infant possibly induced by cisapride. Ital J Neurol Sci. 1996 Apr;17(2):157-9. Abstract

93. Kawana S, Toyoshima Y, Tobise F, et al. Dystonic reaction following general anesthesia in a 2-month-old infant. Paediatr Anaesth. 2007 Sep;17(9):901-2. Abstract

94. Crosley CJ, Swender PT. Dystonia associated with carbamazepine administration: experience in brain-damaged children. Pediatrics. 1979 Apr;63(4):612-5. Abstract

95. Adams SB Jr, Flynn JM, Hosalkar HS, et al. Torticollis in an infant caused by hereditary muscle aplasia. Am J Orthop (Belle Mead NJ). 2003 Nov;32(11):556-8. Abstract

96. Caress JB, Nohria V, Fuchs H, et al. Torticollis acquired in late infancy due to a cerebellar gangliocytoma. Int J Pediatr Otorhinolaryngol. 1996 Jun;36(1):39-44. Abstract

97. Ekinci S, Karnak I, Tanyel FC. Infantile fibromatosis of the sternocleidomastoid muscle mimicking muscular torticollis. J Pediatr Surg. 2004 Sep;39(9):1424-5. Abstract

98. Lehwald N, Krausch M, Franke C, et al. Sandifer syndrome: a multidisciplinary diagnostic and therapeutic challenge. Eur J Pediatr Surg. 2007 Jun;17(3):203-6. Abstract

99. Dimaala J, Chaljub G, Oto A, et al. Odontoid osteomyelitis masquerading as a C2 fracture in an 18-month-old male with torticollis: CT and MRI features. Emerg Radiol. 2006 Jul;12(5):234-6. Abstract

100. Mukherjee S, Sharief N. Bacterial meningitis presenting as acute torticollis. Acta Paediatr. 2004 Jul;93(7):1005-6. Abstract

101. Kiblinger GD, Wallace BS, Hines M, et al. Spasmus nutans-like nystagmus is often associated with underlying ocular, intracranial, or systemic abnormalities. J Neuroophthalmol. 2007 Jun;27(2):118-22. Abstract

102. Nordli DR Jr, Kuroda MM, Hirsch LJ. The ontogeny of partial seizures in infants and young children. Epilepsia. 2001 Aug;42(8):986-90.Full text  Abstract

103. Cataltepe SU, Barron TF. Benign paroxysmal torticollis presenting as "seizures" in infancy. Clin Pediatr (Phila). 1993 Sep;32(9):564-5. Abstract

104. Saini AG, Hassan I, Sharma K, et al. Status dystonicus in children: a cross-sectional study and review of literature. J Child Neurol. 2022 May;37(6):441-50. Abstract

105. Pierro MM, Bollea L, Di Rosa G, et al. Anoxic brain injury following near-drowning in children. Rehabilitation outcome: three case reports. Brain Inj. 2005 Dec;19(13):1147-55. Abstract

106. Garone G, Graziola F, Nicita F, et al. Prestatus and status dystonicus in children and adolescents. Dev Med Child Neurol. 2020 Jun;62(6):742-9.Full text  Abstract

107. Goswami JN, Roy S, Patnaik SK. Pediatric dystonic storm: a hospital-based study. Neurol Clin Pract. 2021 Oct;11(5):e645-53.Full text  Abstract

108. Mariotti P, Fasano A, Contarino MF, et al. Management of status dystonicus: our experience and review of the literature. Mov Disord. 2007 May 15;22(7):963-8. Abstract

109. Teive HA, Munhoz RP, Souza MM, et al. Status dystonicus: study of five cases. Arq Neuropsiquiatr. 2005 Mar;63(1):26-9.Full text  Abstract

110. Manji H, Howard RS, Miller DH, et al. Status dystonicus: the syndrome and its management. Brain. 1998 Feb;121 (Pt 2):243-52.Full text  Abstract

111. Forny P, Hörster F, Ballhausen D, et al. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: first revision. J Inherit Metab Dis. 2021 May;44(3):566-92.Full text  Abstract

112. Prietsch V, de Baulny HO, Saudubray J-M. Emergency treatments. In: Fernandes J, ed. Inborn metabolic diseases. 4th ed. Heidelberg, Germany: Springer Medizin; 2006:71-8.

113. Zhou L, Chillag KL, Nigro MA. Hyperekplexia: a treatable neurogenetic disease. Brain Dev. 2002 Oct;24(7):669-74. Abstract

114. Fernández-Alvarez E. Prevalence of paediatric movement disorders. In: Fernández-Alvarez E, Arzimanoglou A, Tolosa E, eds. Paediatric movement disorders. Montrouge, France: John Libbey Eurotext; 2005:1-18.

115. Jethwa A, Mink J, Macarthur C, et al. Development of the hypertonia assessment tool (HAT): a discriminative tool for hypertonia in children. Dev Med Child Neurol. 2010 May;52(5):e83-7. Abstract

116. Sanger TD. Toward a definition of childhood dystonia. Curr Opin Pediatr. 2004 Dec;16(6):623-7. Abstract

117. Fernández-Alvarez E. Dystonia. The paediatric perspective. Eur J Neurol. 2010 Jul;17 Suppl 1:46-51. Abstract

118. Sanger TD, Chen D, Fehlings DL, et al. Definition and classification of hyperkinetic movements in childhood. Mov Disord. 2010 Aug 15;25(11):1538-49. Abstract

119. Jinnah HA, Albanese A, Bhatia KP, et al. Treatable inherited rare movement disorders. Mov Disord. 2018 Jan;33(1):21-35.Full text  Abstract

120. Brandsma R, van Egmond ME, Tijssen MAJ, et al. Diagnostic approach to paediatric movement disorders: a clinical practice guide. Dev Med Child Neurol. 2021 Mar;63(3):252-8.Full text  Abstract

121. Albanese A, Barnes MP, Bhatia KP, et al. A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES task force. Eur J Neurol. 2006 May;13(5):433-44. Abstract

122. Giffin N, Benton S, Goadsby PS. Benign paroxysmal torticollis of infancy; four new cases and linkage to CACNA1A mutation. Dev Med Child Neurol. 2002 Jul;44(7):490-3. Abstract

123. Assmann B, Surtees R, Hoffmann GF. Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia. Ann Neurol. 2003;54 Suppl 6:S18-24. Abstract

124. Kumar KR, Davis RL, Tchan MC, et al. Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes. Parkinsonism Relat Disord. 2019 Dec;69:111-8.Full text  Abstract

125. Pozojevic J, Beetz C, Westenberger A. The importance of genetic testing for dystonia patients and translational research. J Neural Transm (Vienna). 2021 Apr;128(4):473-81.Full text  Abstract

126. Dzinovic I, Škorvánek M, Necpál J, et al. Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: a case series. Parkinsonism Relat Disord. 2021 Sep;90:73-8. Abstract

127. Graziola F, Garone G, Stregapede F, et al. Diagnostic yield of a targeted next-generation sequencing gene panel for pediatric-onset movement disorders: a 3-year cohort study. Front Genet. 2019 Oct 29;10:1026.Full text  Abstract

128. Retterer K, Scuffins J, Schmidt D, et al. Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort. Genet Med. 2015 Aug;17(8):623-9.Full text  Abstract

129. Dale RC, Grattan-Smith P, Nicholson M, et al. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. Dev Med Child Neurol. 2012 Jul;54(7):618-23.Full text  Abstract

130. Fogel BL, Satya-Murti S, Cohen BH. Clinical exome sequencing in neurologic disease. Neurol Clin Pract. 2016 Apr;6(2):164-76.Full text  Abstract

131. Kong SW, Lee IH, Liu X, et al. Measuring coverage and accuracy of whole-exome sequencing in clinical context. Genet Med. 2018 Dec;20(12):1617-26.Full text  Abstract

132. Dai P, Honda A, Ewans L, et al. Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: a systematic review and meta-analysis. Genet Med. 2022 Aug;24(8):1618-29.Full text  Abstract

133. Willemse J. Benign idiopathic dystonia with onset in the first year of life. Dev Med Child Neurol. 1986 Jun;28(3):355-60. Abstract

134. Deonna TW, Ziegler AL, Nielsen J. Transient idiopathic dystonia in infancy. Neuropediatrics. 1991 Nov;22(4):220-4. Abstract

135. Deonna T, Martin D. Benign paroxysmal torticollis in infancy. Arch Dis Child. 1981 Dec;56(12):956-9.Full text  Abstract

136. Dunn DW, Snyder CH. Benign paroxysmal vertigo of childhood. Am J Dis Child. 1976 Oct;130(10):1099-100. Abstract

137. Do TT. Congenital muscular torticollis: current concepts and review of treatment. Curr Opin Pediatr. 2006 Feb;18(1):26-9. Abstract

138. de Chalain TM, Park S. Torticollis associated with positional plagiocephaly: a growing epidemic. J Craniofac Surg. 2005 May;16(3):411-8. Abstract

139. Tien YC, Su JY, Lin GT, et al. Ultrasonographic study of the coexistence of muscular torticollis and dysplasia of the hip. J Pediatr Orthop. 2001 May-Jun;21(3):343-7. Abstract

140. Snyder EM, Coley BD. Limited value of plain radiographs in infant torticollis. Pediatrics. 2006 Dec;118(6):e1779-84. Abstract

141. Parikh SN, Crawford AH, Choudhury S. Magnetic resonance imaging in evaluation of infantile torticollis. Orthopedics. 2004 May;27(5):509-15. Abstract

142. Lotze T, Jankovic J. Paroxysmal kinesigenic dyskinesias. Semin Pediatr Neurol. 2003 Mar;10(1):68-79. Abstract

143. Bennett LB, Roach ES, Bowcock AM. A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. Neurology. 2000 Jan 11;54(1):125-30. Abstract

144. Cuenca-Leon E, Cormand B, Thomson T, et al. Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree. Neuropediatrics. 2002 Dec;33(6):288-93. Abstract

145. Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol. 1995 Oct;38(4):571-9. Abstract

146. Lee HY, Xu Y, Huang Y, et al. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet. 2004 Dec 15;13(24):3161-70.Full text  Abstract

147. Silver K, Andermannn F. Alternating hemiplegia of childhood: a study of 10 patients and results of flunarizine treatment. Neurology. 1993 Jan;43(1):36-41. Abstract

148. Fraioli B, Guglielmi G, Baldassarre L. Clinical study of dantrolene sodium in the treatment of spastic and dystonic syndromes [in Italian]. Riv Neurol. 1976 Jul-Aug;46(4):333-50. Abstract

149. Nomura Y, Ikeuchi T, Tsuji S, et al. Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration. Brain Dev. 2000 Sep;22 Suppl 1:S92-101. Abstract

150. Bianca S, Bianca M. A new deletion in autosomal dominant guanosine triphosphate cyclohydrolase I deficiency gene - Segawa disease. J Neural Transm (Vienna). 2006 Feb;113(2):159-62. Abstract

151. Bräutigam C, Steenbergen-Spanjers GC, Hoffmann GF, et al. Biochemical and molecular genetic characteristics of the severe form of thyrosine hydroxylase deficiency. Clin Chem. 1999 Dec;45(12):2073-8.Full text  Abstract

152. Hoffmann GF, Assmann B, Brautigam C, et al. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol. 2003;54 Suppl 6:S56-65. Abstract

153. Diepold K, Schutz B, Rostasy K, et al. Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections. Mov Disord. 2005 Jun;20(6):764-7. Abstract

154. Lopez-Laso E, Camino R, Mateos ME, et al. Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency. J Neurol Sci. 2007 May 15;256(1-2):90-3. Abstract

155. Saint Hilaire MH, Burke RE, Bressman SB, et al. Delayed-onset dystonia due to perinatal or early childhood asphyxia. Neurology. 1991 Feb;41(2 (Pt 1)):216-22. Abstract

156. Hoon AH Jr, Reinhardt EM, Kelley RI, et al. Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes. J Pediatr. 1997 Aug;131(2):240-5. Abstract

157. O'Suilleabhain P, Dewey RB Jr. Movement disorders after head injury: diagnosis and management. J Head Trauma Rehabil. 2004 Jul-Aug;19(4):305-13. Abstract

158. Alkhani A, Bohlega S. Unilateral pallidotomy for hemidystonia. Mov Disord. 2006 Jun;21(6):852-5. Abstract

159. Kostic VS, Covickovic-Sternic N, Svetel-Stojanovic M, et al. Delayed-onset dystonia due to asphyxia in the perinatal period [in Serbian]. Srp Arh Celok Lek. 1997 Mar-Apr;125(3-4):84-8. Abstract

160. Chuang C, Fahn S, Frucht SJ. The natural history and treatment of acquired hemidystonia: report of 33 cases and review of the literature. J Neurol Neurosurg Psychiatry. 2002 Jan;72(1):59-67.Full text  Abstract

161. Shapiro SM, Bhutani VK, Johnson L. Hyperbilirubinemia and kernicterus. Clin Perinatol. 2006 Jun;33(2):387-410. Abstract

162. Strauss KA, Puffenberger EG, Robinson DL, et al. Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):38-52. Abstract

163. Kölker S, Christensen E, Leonard JV, et al. Diagnosis and management of glutaric aciduria type I - revised recommendations. J Inherit Metab Dis. 2011 Jun;34(3):677-94.Full text  Abstract

164. Page T, Bakay B, Nissinen E. Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity. J Inherit Metab Dis. 1981;4(4):203-6. Abstract

165. Jinnah HA, Harris JC, Nyhan WL. The spectrum of mutations causing HPRT deficiency: an update. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1153-60. Abstract

166. Brismar J, Brismar G, Coates R, et al. Increased density of the thalamus on CT scans in patients with GM2 gangliosidoses. AJNR Am J Neuroradiol. 1990 Jan-Feb;11(1):125-30. Abstract

167. Yamada E, Matsumoto M, Hazaa F, et al. Two siblings, including a fetus, with Tay-Sachs disease. Acta Pathol Jpn. 1981 Nov;31(6):1053-61. Abstract

168. Carrozzo R, Piemonte F, Tessa A, et al. Infantile mitochondrial disorders. Biosci Rep. 2007 Jun;27(1-3):105-12. Abstract

169. Carrozzo R, Dionisi-Vici C, Steuerwald U, et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3):862-74.Full text  Abstract

170. McFarland R, Chinnery PF, Blakely EL, et al. Homoplasmy, heteroplasmy, and mitochondrial dystonia. Neurology. 2007 Aug 28;69(9):911-6. Abstract

171. Filosto M, Tomelleri G, Tonin P, et al. Neuropathology of mitochondrial diseases. Biosci Rep. 2007 Jun;27(1-3):23-30. Abstract

172. Hayflick SJ. Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name. Curr Opin Pediatr. 2003 Dec;15(6):572-7. Abstract

173. Rao C, Murthy V, Hedge R, et al. Hallervorden Spatz disease. Indian J Pediatr. 2003 Jun;70(6):513-4. Abstract

174. Ching KH, Westaway SK, Gitschier J, et al. HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. Neurology. 2002 Jun 11;58(11):1673-4. Abstract

175. Ostergaard JR, Christensen T, Hansen KN. In vivo diagnosis of Hallervorden-Spatz disease. Dev Med Child Neurol. 1995 Sep;37(9):827-33. Abstract

176. Gordon N. Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome). Eur J Paediatr Neurol. 2002;6(5):243-7. Abstract

177. Matarin MM, Singleton AB, Houlden H. PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease. Neurosci Lett. 2006 Oct 23;407(2):162-5. Abstract

178. Hersheson J, Mencacci NE, Davis M, et al. Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol. 2013 Apr;73(4):546-53.Full text  Abstract

179. Kabakuş N, Kurt A. Sandifer syndrome: a continuing problem of misdiagnosis. Pediatr Int. 2006 Dec;48(6):622-5. Abstract

180. Smith DE, Fitzgerald K, Stass-Isern M, et al. Electroretinography is necessary for spasmus nutans diagnosis. Pediatr Neurol. 2000 Jul;23(1):33-6. Abstract

181. Vigevano F, Bartuli A. Infantile epileptic syndromes and metabolic etiologies. J Child Neurol. 2002 Dec;17 Suppl 3:3S9-13. Abstract

182. Fenichel GM. Paroxysmal disorders. In: Fenichel GM, ed. Clinical pediatric neurology - a signs and symptoms approach. Philadelphia, PA: Elsevier Saunders; 2019:1-49.