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Duane anomaly-myopathy-scoliosis syndrome

MedGen UID:
928219
•Concept ID:
C4302550
•
Disease or Syndrome
Synonyms: Duane anomaly, myopathy, scoliosis syndrome; Verloes Deprez syndrome; Verloes-Deprez syndrome
SNOMED CT: Duane anomaly, myopathy, scoliosis syndrome (722432000); Verloes Deprez syndrome (722432000)
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 recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0033672
Orphanet: ORPHA50817

Definition

Syndrome with the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of siblings. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDuane anomaly-myopathy-scoliosis syndrome

Professional guidelines

PubMed

Duane syndrome: Clinical features and surgical management.
Kalevar A, Ong Tone S, Flanders M
Can J Ophthalmol 2015 Aug;50(4):310-3. doi: 10.1016/j.jcjo.2015.05.005. PMID: 26257226
Diagnosis and management of strabismus using telemedicine.
Helveston EM, Neely DE, Cherwek DH, Smallwood LM
Telemed J E Health 2008 Aug;14(6):531-8. doi: 10.1089/tmj.2007.0086. PMID: 18729751
Use of botulinum toxin for treatment of strabismus, a preliminary report.
Walden PG, Biglan AW
Trans Pa Acad Ophthalmol Otolaryngol 1985 Winter;37(2):136-42. PMID: 4012825

Recent clinical studies

Etiology

Efficacy and Safety of the mRNA-1273 SARS-CoV-2 Vaccine.
Baden LR, El Sahly HM, Essink B, Kotloff K, Frey S, Novak R, Diemert D, Spector SA, Rouphael N, Creech CB, McGettigan J, Khetan S, Segall N, Solis J, Brosz A, Fierro C, Schwartz H, Neuzil K, Corey L, Gilbert P, Janes H, Follmann D, Marovich M, Mascola J, Polakowski L, Ledgerwood J, Graham BS, Bennett H, Pajon R, Knightly C, Leav B, Deng W, Zhou H, Han S, Ivarsson M, Miller J, Zaks T; COVE Study Group
N Engl J Med 2021 Feb 4;384(5):403-416. Epub 2020 Dec 30 doi: 10.1056/NEJMoa2035389. PMID: 33378609Free PMC Article
Prehospital Plasma during Air Medical Transport in Trauma Patients at Risk for Hemorrhagic Shock.
Sperry JL, Guyette FX, Brown JB, Yazer MH, Triulzi DJ, Early-Young BJ, Adams PW, Daley BJ, Miller RS, Harbrecht BG, Claridge JA, Phelan HA, Witham WR, Putnam AT, Duane TM, Alarcon LH, Callaway CW, Zuckerbraun BS, Neal MD, Rosengart MR, Forsythe RM, Billiar TR, Yealy DM, Peitzman AB, Zenati MS; PAMPer Study Group
N Engl J Med 2018 Jul 26;379(4):315-326. doi: 10.1056/NEJMoa1802345. PMID: 30044935
Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders.
Kim JH, Hwang JM
Korean J Ophthalmol 2017 Jun;31(3):183-193. Epub 2017 May 12 doi: 10.3341/kjo.2017.0024. PMID: 28534340Free PMC Article
Congenital and Genetic Ocular Motility Disorders: Update and Considerations.
Oystreck D
Am Orthopt J 2015;65:58-66. doi: 10.3368/aoj.65.1.58. PMID: 26564928
Cranial nerve palsies in childhood.
Lyons CJ, Godoy F, ALQahtani E
Eye (Lond) 2015 Feb;29(2):246-51. Epub 2015 Jan 9 doi: 10.1038/eye.2014.292. PMID: 25572578Free PMC Article

Diagnosis

Auditory brainstem response.
Eggermont JJ
Handb Clin Neurol 2019;160:451-464. doi: 10.1016/B978-0-444-64032-1.00030-8. PMID: 31277868
The congenital cranial dysinnervation disorders.
Gutowski NJ, Chilton JK
Arch Dis Child 2015 Jul;100(7):678-81. Epub 2015 Jan 29 doi: 10.1136/archdischild-2014-307035. PMID: 25633065
Paralytic strabismus.
Schiavi C
Curr Opin Ophthalmol 1995 Oct;6(5):22-6. doi: 10.1097/00055735-199510000-00005. PMID: 10159715
Congenital esotropia.
Nelson LB, Wagner RS, Simon JW, Harley RD
Surv Ophthalmol 1987 May-Jun;31(6):363-83. doi: 10.1016/0039-6257(87)90030-0. PMID: 3303394
Pseudoretinitis pigmentosa.
McCulloch D, Cummings RW
Am J Optom Physiol Opt 1984 Jan;61(1):56-60. doi: 10.1097/00006324-198401000-00011. PMID: 6703002

Therapy

The teratogenic effects of thalidomide on limbs.
Vargesson N
J Hand Surg Eur Vol 2019 Jan;44(1):88-95. Epub 2018 Oct 18 doi: 10.1177/1753193418805249. PMID: 30335598
Prehospital Plasma during Air Medical Transport in Trauma Patients at Risk for Hemorrhagic Shock.
Sperry JL, Guyette FX, Brown JB, Yazer MH, Triulzi DJ, Early-Young BJ, Adams PW, Daley BJ, Miller RS, Harbrecht BG, Claridge JA, Phelan HA, Witham WR, Putnam AT, Duane TM, Alarcon LH, Callaway CW, Zuckerbraun BS, Neal MD, Rosengart MR, Forsythe RM, Billiar TR, Yealy DM, Peitzman AB, Zenati MS; PAMPer Study Group
N Engl J Med 2018 Jul 26;379(4):315-326. doi: 10.1056/NEJMoa1802345. PMID: 30044935
Reflux and allograft dysfunction: is there a connection?
Gulack BC, Meza JM, Lin SS, Hartwig MG, Davis RD
Thorac Surg Clin 2015;25(1):97-105. doi: 10.1016/j.thorsurg.2014.09.006. PMID: 25430433
Paralytic strabismus.
Schiavi C
Curr Opin Ophthalmol 1995 Oct;6(5):22-6. doi: 10.1097/00055735-199510000-00005. PMID: 10159715
Congenital esotropia.
Nelson LB, Wagner RS, Simon JW, Harley RD
Surv Ophthalmol 1987 May-Jun;31(6):363-83. doi: 10.1016/0039-6257(87)90030-0. PMID: 3303394

Prognosis

Efficacy and Safety of the mRNA-1273 SARS-CoV-2 Vaccine.
Baden LR, El Sahly HM, Essink B, Kotloff K, Frey S, Novak R, Diemert D, Spector SA, Rouphael N, Creech CB, McGettigan J, Khetan S, Segall N, Solis J, Brosz A, Fierro C, Schwartz H, Neuzil K, Corey L, Gilbert P, Janes H, Follmann D, Marovich M, Mascola J, Polakowski L, Ledgerwood J, Graham BS, Bennett H, Pajon R, Knightly C, Leav B, Deng W, Zhou H, Han S, Ivarsson M, Miller J, Zaks T; COVE Study Group
N Engl J Med 2021 Feb 4;384(5):403-416. Epub 2020 Dec 30 doi: 10.1056/NEJMoa2035389. PMID: 33378609Free PMC Article
Properties of saccades in Duane retraction syndrome.
Yüksel D, Optican LM, Lefèvre P
Invest Ophthalmol Vis Sci 2005 Sep;46(9):3144-51. doi: 10.1167/iovs.05-0060. PMID: 16123413
Adjustable vertical rectus muscle transposition surgery.
Laby DM, Rosenbaum AL
J Pediatr Ophthalmol Strabismus 1994 Mar-Apr;31(2):75-8. doi: 10.3928/0191-3913-19940301-03. PMID: 8014790
Duane's retraction syndrome.
Rutstein RP
J Am Optom Assoc 1992 Jun;63(6):419-29. PMID: 1634742
Auditory function in Duane's retraction syndrome.
Ro A, Chernoff G, MacRae D, Orton RB, Cadera W
Am J Ophthalmol 1990 Jan 15;109(1):75-8. doi: 10.1016/s0002-9394(14)75583-7. PMID: 2297035

Clinical prediction guides

Efficacy and Safety of the mRNA-1273 SARS-CoV-2 Vaccine.
Baden LR, El Sahly HM, Essink B, Kotloff K, Frey S, Novak R, Diemert D, Spector SA, Rouphael N, Creech CB, McGettigan J, Khetan S, Segall N, Solis J, Brosz A, Fierro C, Schwartz H, Neuzil K, Corey L, Gilbert P, Janes H, Follmann D, Marovich M, Mascola J, Polakowski L, Ledgerwood J, Graham BS, Bennett H, Pajon R, Knightly C, Leav B, Deng W, Zhou H, Han S, Ivarsson M, Miller J, Zaks T; COVE Study Group
N Engl J Med 2021 Feb 4;384(5):403-416. Epub 2020 Dec 30 doi: 10.1056/NEJMoa2035389. PMID: 33378609Free PMC Article
Complications of augmented superior rectus transposition in Duane syndrome.
Merino P, Gómez de Liaño P, Ah Kim Y
Arch Soc Esp Oftalmol 2017 Apr;92(4):175-177. Epub 2016 Aug 16 doi: 10.1016/j.oftal.2016.07.003. PMID: 27542524
Strabismus genetics across a spectrum of eye misalignment disorders.
Ye XC, Pegado V, Patel MS, Wasserman WW
Clin Genet 2014 Aug;86(2):103-11. Epub 2014 Mar 26 doi: 10.1111/cge.12367. PMID: 24579652Free PMC Article
Study of Duane's retraction syndrome.
Ahluwalia BK, Gupta NC, Goel SR, Khurana AK
Acta Ophthalmol (Copenh) 1988 Dec;66(6):728-30. doi: 10.1111/j.1755-3768.1988.tb04071.x. PMID: 3232518
Pseudo-Duane's retraction syndrome.
Duane TD, Schatz NJ, Caputo AR
Trans Am Ophthalmol Soc 1976;74:122-32. PMID: 867622Free PMC Article

Recent systematic reviews

The effects of Prickly Pear fruit and cladode (Opuntia spp.) consumption on blood lipids: A systematic review.
Gouws C, Mortazavi R, Mellor D, McKune A, Naumovski N
Complement Ther Med 2020 May;50:102384. Epub 2020 Mar 27 doi: 10.1016/j.ctim.2020.102384. PMID: 32444049

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