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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

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
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
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

Trucco F, Albamonte E, Pane M, Ricci F, D'amico A, Astrea G, Moroni I, Pini A, Fiorillo C, Berardinelli A, Johnson NE, Sansone VA; DM1 Paediatric Working Group
Dev Med Child Neurol 2025 Mar;67(3):365-373. Epub 2024 Sep 4 doi: 10.1111/dmcn.16079. PMID: 39231278Free PMC Article
Omura J, Chen M, Haviland M, Apkon S
J Pediatr Rehabil Med 2022;15(2):275-279. doi: 10.3233/PRM-200726. PMID: 34806628
Upadhyay K, Thomson A, Luckas MJ
Fetal Diagn Ther 2005 Nov-Dec;20(6):512-4. doi: 10.1159/000088041. PMID: 16260886
Sun SF, Binder J, Streib E, Goodlin RC
South Med J 1985 Jul;78(7):823-6. doi: 10.1097/00007611-198507000-00013. PMID: 4012379
O'Brien T, Newcombe RG, Harper PS
J Pediatr 1983 Nov;103(5):762-3. doi: 10.1016/s0022-3476(83)80480-6. PMID: 6631608

Diagnosis

Hiekel J, Kaufmann M, Dinger J
Dtsch Arztebl Int 2022 Apr 29;119(17):305. doi: 10.3238/arztebl.m2022.0029. PMID: 35912536Free PMC Article
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
Kapoor V, Wright IM
Pediatr Int 2010 Feb;52(1):e6-8. doi: 10.1111/j.1442-200X.2009.02998.x. PMID: 20158653
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
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

Timchenko L
Int J Mol Sci 2019 Dec 21;21(1) doi: 10.3390/ijms21010094. PMID: 31877772Free PMC Article
Horan M, Stutchfield PR
Dev Med Child Neurol 2001 May;43(5):346-9. doi: 10.1017/s0012162201000639. PMID: 11368488
Anderson BJ, Brown TC
Anaesth Intensive Care 1989 Aug;17(3):320-4. doi: 10.1177/0310057X8901700313. PMID: 2672873
Anderson BJ, Brown TC
Anaesth Intensive Care 1989 Aug;17(3):351-4. doi: 10.1177/0310057X8901700318. PMID: 2549803
Wexler HA, Poole CA
AJR Am J Roentgenol 1976 Oct;127(4):617-22. doi: 10.2214/ajr.127.4.617. PMID: 970533

Prognosis

Kapoor V, Wright IM
Pediatr Int 2010 Feb;52(1):e6-8. doi: 10.1111/j.1442-200X.2009.02998.x. PMID: 20158653
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
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
O'Brien T, Newcombe RG, Harper PS
J Pediatr 1983 Nov;103(5):762-3. doi: 10.1016/s0022-3476(83)80480-6. PMID: 6631608
Harper PS
Arch Dis Child 1974 Oct;49(10):820. doi: 10.1136/adc.49.10.820-b. PMID: 4429371Free PMC Article

Clinical prediction guides

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: 38359368Free PMC Article
Lanni S, Pearson CE
Neurobiol Dis 2019 Dec;132:104533. Epub 2019 Jul 19 doi: 10.1016/j.nbd.2019.104533. PMID: 31326502
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
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
Nakamori M, Hamanaka K, Thomas JD, Wang ET, Hayashi YK, Takahashi MP, Swanson MS, Nishino I, Mochizuki H
Cell Rep 2017 Oct 31;21(5):1240-1252. doi: 10.1016/j.celrep.2017.10.018. PMID: 29091763Free PMC Article

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