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Benign paroxysmal torticollis of infancy

MedGen UID:
782128
Concept ID:
C3494934
Finding
Synonym: benign paroxysmal torticollis of infancy
SNOMED CT: Benign paroxysmal torticollis of infancy (719521002)
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.
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0019113
Orphanet: ORPHA71518

Definition

A rare functional disorder with recurrent episodes of torticollis posturing of the head (inclination or tilting of the head to one side) in healthy children. The prevalence is unknown and the benign nature of the disorder probably means that it is under reported. Onset occurs within the first year of life with episodes occurring between every few weeks and every few months. The duration of the torticollis varies between patients, but usually lasts from a few hours to a few days. The frequency and duration of the torticollis episodes decrease as the patient gets older and episodes usually stop completely by 5 years of age. The disorder usually occurs sporadically, but familial occurrence has been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBenign paroxysmal torticollis of infancy

Recent clinical studies

Etiology

Danielsson A, Anderlid BM, Stödberg T, Lagerstedt-Robinson K, Klackenberg Arrhenius E, Tedroff K
Dev Med Child Neurol 2018 Dec;60(12):1251-1255. Epub 2018 Jun 28 doi: 10.1111/dmcn.13939. PMID: 29956301
Brodsky J, Kaur K, Shoshany T, Lipson S, Zhou G
Eur J Paediatr Neurol 2018 Jul;22(4):667-673. Epub 2018 Mar 30 doi: 10.1016/j.ejpn.2018.03.008. PMID: 29656928
Shin M, Douglass LM, Milunsky JM, Rosman NP
J Child Neurol 2016 Jul;31(8):1057-61. Epub 2016 Mar 9 doi: 10.1177/0883073816636226. PMID: 26961263
Spiri D, Rinaldi VE, Titomanlio L
Ital J Pediatr 2014 Nov 19;40:92. doi: 10.1186/s13052-014-0092-4. PMID: 25928129Free PMC Article
Teixeira KC, Montenegro MA, Guerreiro MM
J Child Neurol 2014 Oct;29(10):1366-9. Epub 2013 Oct 3 doi: 10.1177/0883073813504459. PMID: 24092892

Diagnosis

Gurberg J, Tomczak KK, Brodsky JR
Handb Clin Neurol 2023;198:229-240. doi: 10.1016/B978-0-12-823356-6.00004-4. PMID: 38043965
Danielsson A, Anderlid BM, Stödberg T, Lagerstedt-Robinson K, Klackenberg Arrhenius E, Tedroff K
Dev Med Child Neurol 2018 Dec;60(12):1251-1255. Epub 2018 Jun 28 doi: 10.1111/dmcn.13939. PMID: 29956301
Brodsky J, Kaur K, Shoshany T, Lipson S, Zhou G
Eur J Paediatr Neurol 2018 Jul;22(4):667-673. Epub 2018 Mar 30 doi: 10.1016/j.ejpn.2018.03.008. PMID: 29656928
Spiri D, Rinaldi VE, Titomanlio L
Ital J Pediatr 2014 Nov 19;40:92. doi: 10.1186/s13052-014-0092-4. PMID: 25928129Free PMC Article
Teixeira KC, Montenegro MA, Guerreiro MM
J Child Neurol 2014 Oct;29(10):1366-9. Epub 2013 Oct 3 doi: 10.1177/0883073813504459. PMID: 24092892

Therapy

Yaghini O, Badihian N, Badihian S
Pediatrics 2016 Apr;137(4) Epub 2016 Mar 8 doi: 10.1542/peds.2015-0868. PMID: 26956101
Hadjipanayis A, Efstathiou E, Neubauer D
J Paediatr Child Health 2015 Jul;51(7):674-8. Epub 2015 Feb 3 doi: 10.1111/jpc.12841. PMID: 25644090
Bratt HD, Menelaus MB
J Bone Joint Surg Br 1992 May;74(3):449-51. doi: 10.1302/0301-620X.74B3.1587900. PMID: 1587900

Prognosis

Danielsson A, Anderlid BM, Stödberg T, Lagerstedt-Robinson K, Klackenberg Arrhenius E, Tedroff K
Dev Med Child Neurol 2018 Dec;60(12):1251-1255. Epub 2018 Jun 28 doi: 10.1111/dmcn.13939. PMID: 29956301
Hadjipanayis A, Efstathiou E, Neubauer D
J Paediatr Child Health 2015 Jul;51(7):674-8. Epub 2015 Feb 3 doi: 10.1111/jpc.12841. PMID: 25644090
Teixeira KC, Montenegro MA, Guerreiro MM
J Child Neurol 2014 Oct;29(10):1366-9. Epub 2013 Oct 3 doi: 10.1177/0883073813504459. PMID: 24092892
Giffin NJ, Benton S, Goadsby PJ
Dev Med Child Neurol 2002 Jul;44(7):490-3. doi: 10.1017/s0012162201002407. PMID: 12162387
Drigo P, Carli G, Laverda AM
Brain Dev 2000 May;22(3):169-72. doi: 10.1016/s0387-7604(00)00099-1. PMID: 10814899

Clinical prediction guides

Scagni P, Morello M, Pagliero R, Pecco P
Minerva Pediatr 2006 Oct;58(5):499-501. PMID: 17008863
Drigo P, Carli G, Laverda AM
Brain Dev 2000 May;22(3):169-72. doi: 10.1016/s0387-7604(00)00099-1. PMID: 10814899

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