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Congenital myotonic dystrophy

MedGen UID:
98051
•Concept ID:
C0410226
•
Disease or Syndrome
Synonyms: Congenital Myotonic Dystrophies; Congenital Myotonic Dystrophy; Dystrophies, Congenital Myotonic; Dystrophy, Congenital Myotonic; Myotonic Dystrophies, Congenital; Myotonic Dystrophy, Congenital
SNOMED CT: Congenital myotonic dystrophy (240104008)
 
Monarch Initiative: MONDO:0023595

Definition

Myotonic dystrophy that is present at birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital myotonic dystrophy

Professional guidelines

PubMed

Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families.
Martorell L, Cobo AM, Baiget M, Naudó M, Poza JJ, Parra J
Prenat Diagn 2007 Jan;27(1):68-72. doi: 10.1002/pd.1627. PMID: 17154336
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands.
Wallgren-Pettersson C, Bushby K, Mellies U, Simonds A; ENMC
Neuromuscul Disord 2004 Jan;14(1):56-69. doi: 10.1016/j.nmd.2003.09.003. PMID: 14659414
Thin ribs on chest X-ray: a useful sign in the differential diagnosis of the floppy newborn.
Osborne JP, Murphy EG, Hill A
Dev Med Child Neurol 1983 Jun;25(3):343-5. doi: 10.1111/j.1469-8749.1983.tb13768.x. PMID: 6873496

Recent clinical studies

Etiology

Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development.
Hale MA, Bates K, Provenzano M, Johnson NE
Hum Mol Genet 2023 Apr 20;32(9):1413-1428. doi: 10.1093/hmg/ddac254. PMID: 36222125Free PMC Article
Cognitive, neuropsychological and emotional-behavioural functioning in a sample of children with myotonic dystrophy type 1.
Ricci FS, Vacchetti M, Brusa C, D'Alessandro R, La Rosa P, Martone G, Davico C, Vitiello B, Mongini TE
Eur J Paediatr Neurol 2022 Jul;39:59-64. Epub 2022 Jun 1 doi: 10.1016/j.ejpn.2022.05.008. PMID: 35679764
Respiratory outcomes in children with congenital myotonic dystrophy.
Omura J, Chen M, Haviland M, Apkon S
J Pediatr Rehabil Med 2022;15(2):275-279. doi: 10.3233/PRM-200726. PMID: 34806628
Clinical and genetic characteristics of childhood-onset myotonic dystrophy.
Stokes M, Varughese N, Iannaccone S, Castro D
Muscle Nerve 2019 Dec;60(6):732-738. Epub 2019 Oct 23 doi: 10.1002/mus.26716. PMID: 31520483
Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy.
Zapata-Aldana E, Ceballos-Sáenz D, Hicks R, Campbell C
J Neuromuscul Dis 2018;5(3):331-340. doi: 10.3233/JND-170277. PMID: 30010141

Diagnosis

Respiratory outcomes in children with congenital myotonic dystrophy.
Omura J, Chen M, Haviland M, Apkon S
J Pediatr Rehabil Med 2022;15(2):275-279. doi: 10.3233/PRM-200726. PMID: 34806628
Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy.
Berggren KN, Hung M, Dixon MM, Bounsanga J, Crockett B, Foye MD, Gu Y, Campbell C, Butterfield RJ, Johnson NE
Muscle Nerve 2018 Sep;58(3):413-417. doi: 10.1002/mus.26176. PMID: 29901230Free PMC Article
Congenital myotonic dystrophy: ventriculomegaly and shunt considerations for the pediatric neurosurgeon.
Mutchnick IS, Thatikunta MA, Gump WC, Stewart DL, Moriarty TM
Childs Nerv Syst 2016 Apr;32(4):609-16. Epub 2016 Jan 8 doi: 10.1007/s00381-015-2993-y. PMID: 26747623
Centronuclear (myotubular) myopathy.
Jungbluth H, Wallgren-Pettersson C, Laporte J
Orphanet J Rare Dis 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. PMID: 18817572Free PMC Article
Congenital myotonic dystrophy.
Gulati S, Kabra M, Gera S, Kalra V, Saxena R, Verma IC
Indian J Pediatr 2001 May;68(5):451-3. doi: 10.1007/BF02723026. PMID: 11407162

Therapy

Correction of RNA-Binding Protein CUGBP1 and GSK3β Signaling as Therapeutic Approach for Congenital and Adult Myotonic Dystrophy Type 1.
Timchenko L
Int J Mol Sci 2019 Dec 21;21(1) doi: 10.3390/ijms21010094. PMID: 31877772Free PMC Article
A study of the facilitation of respiration in myotonic dystrophy.
Nitz J, Burke B
Physiother Res Int 2002;7(4):228-38. doi: 10.1002/pri.262. PMID: 12528578
Congenital myotonic dystrophy in children--a review of ten years' experience.
Anderson BJ, Brown TC
Anaesth Intensive Care 1989 Aug;17(3):320-4. doi: 10.1177/0310057X8901700313. PMID: 2672873
Gastroparesis in neonatal myotonic dystrophy.
Bodensteiner JB, Grunow JE
Muscle Nerve 1984 Jul-Aug;7(6):486-7. doi: 10.1002/mus.880070612. PMID: 6543902
Neonatal diaphragmatic dysfunction.
Wexler HA, Poole CA
AJR Am J Roentgenol 1976 Oct;127(4):617-22. doi: 10.2214/ajr.127.4.617. PMID: 970533

Prognosis

Clinical and genetic characteristics of childhood-onset myotonic dystrophy.
Stokes M, Varughese N, Iannaccone S, Castro D
Muscle Nerve 2019 Dec;60(6):732-738. Epub 2019 Oct 23 doi: 10.1002/mus.26716. PMID: 31520483
Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy.
Thomas JD, Sznajder ŁJ, Bardhi O, Aslam FN, Anastasiadis ZP, Scotti MM, Nishino I, Nakamori M, Wang ET, Swanson MS
Genes Dev 2017 Jun 1;31(11):1122-1133. Epub 2017 Jul 11 doi: 10.1101/gad.300590.117. PMID: 28698297Free PMC Article
Cardiac Abnormalities in Congenital and Childhood Myotonic Muscular Dystrophy Type 1.
Sharma A, Singh S, Mishra SK
Neuropediatrics 2017 Feb;48(1):42-44. Epub 2016 Dec 19 doi: 10.1055/s-0036-1597546. PMID: 27992942
Centronuclear (myotubular) myopathy.
Jungbluth H, Wallgren-Pettersson C, Laporte J
Orphanet J Rare Dis 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. PMID: 18817572Free PMC Article
Congenital myotonic dystrophy.
Upadhyay K, Thomson A, Luckas MJ
Fetal Diagn Ther 2005 Nov-Dec;20(6):512-4. doi: 10.1159/000088041. PMID: 16260886

Clinical prediction guides

Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy.
Patel N, Berggren KN, Hung M, Bates K, Dixon MM, Bax K, Adams H, Butterfield RJ, Campbell C, Johnson NE
Neurology 2024 Mar 12;102(5):e208115. Epub 2024 Feb 15 doi: 10.1212/WNL.0000000000208115. PMID: 38359368
Cognitive, neuropsychological and emotional-behavioural functioning in a sample of children with myotonic dystrophy type 1.
Ricci FS, Vacchetti M, Brusa C, D'Alessandro R, La Rosa P, Martone G, Davico C, Vitiello B, Mongini TE
Eur J Paediatr Neurol 2022 Jul;39:59-64. Epub 2022 Jun 1 doi: 10.1016/j.ejpn.2022.05.008. PMID: 35679764
Molecular genetics of congenital myotonic dystrophy.
Lanni S, Pearson CE
Neurobiol Dis 2019 Dec;132:104533. Epub 2019 Jul 19 doi: 10.1016/j.nbd.2019.104533. PMID: 31326502
A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks.
Prasad M, Glueck M, Ceballos-Saenz D, Zapata-Aldana E, Johnson N, Campbell C, Nguyen CE
J Neuromuscul Dis 2019;6(3):341-347. doi: 10.3233/JND-180345. PMID: 31227653
Body composition in patients with congenital myotonic dystrophy.
Ceballos-Sáenz D, Zapata-Aldana E, Singeris S, Hicks R, Johnson N, Campbell C
Muscle Nerve 2019 Aug;60(2):176-179. Epub 2019 Jun 10 doi: 10.1002/mus.26509. PMID: 31074869

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