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Congenital nemaline myopathy

MedGen UID:
692449
•Concept ID:
C1268589
•
Disease or Syndrome
Synonym: Nemaline myopathy, early onset type
SNOMED CT: Nemaline myopathy, early onset type (129621001); Congenital nemaline myopathy (129621001)
 
Orphanet: ORPHA457074

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital nemaline myopathy

Professional guidelines

PubMed

Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice.
de Winter JM, Gineste C, Minardi E, Brocca L, Rossi M, Borsboom T, Beggs AH, Bernard M, Bendahan D, Hwee DT, Malik FI, Pellegrino MA, Bottinelli R, Gondin J, Ottenheijm CAC
Hum Mol Genet 2021 Jun 26;30(14):1305-1320. doi: 10.1093/hmg/ddab112. PMID: 33909041Free PMC Article
Prenatal diagnosis of congenital myopathies and muscular dystrophies.
Massalska D, Zimowski JG, Bijok J, Kucińska-Chahwan A, Łusakowska A, Jakiel G, Roszkowski T
Clin Genet 2016 Sep;90(3):199-210. Epub 2016 Jun 2 doi: 10.1111/cge.12801. PMID: 27197572
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
Feng JJ, Marston S
Neuromuscul Disord 2009 Jan;19(1):6-16. Epub 2008 Oct 30 doi: 10.1016/j.nmd.2008.09.005. PMID: 18976909

Recent clinical studies

Etiology

Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.
Schatz UA, Weiss S, Wenninger S, Schoser B, Muss WH, Bittner RE, Schmidt WM, Schossig AS, Rudnik-Schöneborn S, Baumann M
Neurology 2018 Oct 30;91(18):e1690-e1694. Epub 2018 Oct 5 doi: 10.1212/WNL.0000000000006428. PMID: 30291184
A case of nemaline myopathy with associated dilated cardiomyopathy and respiratory failure.
Nagata R, Kamimura D, Suzuki Y, Saito T, Toyama H, Dejima T, Inada H, Miwa Y, Uchino K, Umemura S, Shimizu M
Int Heart J 2011;52(6):401-5. doi: 10.1536/ihj.52.401. PMID: 22188717
Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.
Buxmann H, Schlösser R, Schlote W, Sewell A, Nowak KJ, Laing NG, Loewenich V
Neuropediatrics 2001 Oct;32(5):267-70. doi: 10.1055/s-2001-19122. PMID: 11748499
Congenital nemaline myopathy. A clinical follow-up of twelve patients.
Wallgren-Pettersson C
J Neurol Sci 1989 Jan;89(1):1-14. doi: 10.1016/0022-510x(89)90002-6. PMID: 2926439
Pathology of congenital nemaline myopathy. A follow-up study.
Wallgren-Pettersson C, Rapola J, Donner M
J Neurol Sci 1988 Feb;83(2-3):243-57. doi: 10.1016/0022-510x(88)90072-x. PMID: 3356991

Diagnosis

Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.
Waisayarat J, Suriyonplengsaeng C, Khongkhatithum C, Rochanawutanon M
Diagn Pathol 2015 Apr 16;10:27. doi: 10.1186/s13000-015-0270-8. PMID: 25890230Free PMC Article
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.
Castiglioni C, Cassandrini D, Fattori F, Bellacchio E, D'Amico A, Alvarez K, Gejman R, Diaz J, Santorelli FM, Romero NB, Bertini E, Bevilacqua JA
Muscle Nerve 2014 Dec;50(6):1011-6. Epub 2014 Oct 30 doi: 10.1002/mus.24353. PMID: 25088345
Nemaline myopathy and cardiomyopathy.
Skyllouriotis ML, Marx M, Skyllouriotis P, Bittner R, Wimmer M
Pediatr Neurol 1999 Apr;20(4):319-21. doi: 10.1016/s0887-8994(98)00158-1. PMID: 10328285
Pregnancy and delivery in congenital nemaline myopathy.
Wallgren-Pettersson C, Hiilesmaa VK, Paatero H
Acta Obstet Gynecol Scand 1995 Sep;74(8):659-61. doi: 10.3109/00016349509013486. PMID: 7660780
Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy.
Wallgren-Pettersson C, Kivisaari L, Jääskeläinen J, Lamminen A, Holmberg C
Pediatr Neurol 1990 Jan-Feb;6(1):20-8. doi: 10.1016/0887-8994(90)90074-b. PMID: 2178616

Therapy

Nemaline myopathy and cardiomyopathy.
Skyllouriotis ML, Marx M, Skyllouriotis P, Bittner R, Wimmer M
Pediatr Neurol 1999 Apr;20(4):319-21. doi: 10.1016/s0887-8994(98)00158-1. PMID: 10328285
Respiratory deterioration during growth hormone therapy in a case of congenital nemaline myopathy.
Logghe K, Wit JM, Jennekens F, Pruijs JE
Eur J Pediatr 1990 Nov;150(1):69-71. doi: 10.1007/BF01959486. PMID: 2079082

Prognosis

Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.
Schatz UA, Weiss S, Wenninger S, Schoser B, Muss WH, Bittner RE, Schmidt WM, Schossig AS, Rudnik-Schöneborn S, Baumann M
Neurology 2018 Oct 30;91(18):e1690-e1694. Epub 2018 Oct 5 doi: 10.1212/WNL.0000000000006428. PMID: 30291184
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.
Waisayarat J, Suriyonplengsaeng C, Khongkhatithum C, Rochanawutanon M
Diagn Pathol 2015 Apr 16;10:27. doi: 10.1186/s13000-015-0270-8. PMID: 25890230Free PMC Article
A case of nemaline myopathy with associated dilated cardiomyopathy and respiratory failure.
Nagata R, Kamimura D, Suzuki Y, Saito T, Toyama H, Dejima T, Inada H, Miwa Y, Uchino K, Umemura S, Shimizu M
Int Heart J 2011;52(6):401-5. doi: 10.1536/ihj.52.401. PMID: 22188717
Nemaline myopathy: a clinical study of 143 cases.
Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, Laing NG, Beggs AH, North KN
Ann Neurol 2001 Sep;50(3):312-20. doi: 10.1002/ana.1080. PMID: 11558787
Genetics of congenital nemaline myopathy.
Kondo K, Yuasa T
Muscle Nerve 1980 Jul-Aug;3(4):308-15. doi: 10.1002/mus.880030407. PMID: 6997732

Clinical prediction guides

NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
Bouman K, Küsters B, De Winter JM, Gillet C, Van Kleef ESB, Eshuis L, Brochier G, Madelaine A, Labasse C, Boulogne C, Van Engelen BGM, Ottenheijm CAC, Romero NB, Voermans NC, Malfatti E
J Neuropathol Exp Neurol 2021 Mar 22;80(4):366-376. doi: 10.1093/jnen/nlab012. PMID: 33693846
Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene.
Marguet F, Rendu J, Vanhulle C, Bedat-Millet AL, Brehin AC, Fauré J, Laquerrière A
Neuromuscul Disord 2020 Mar;30(3):207-212. Epub 2019 Dec 20 doi: 10.1016/j.nmd.2019.12.005. PMID: 32008911
Deep Brain Stimulation in Rare Inherited Dystonias.
Beaulieu-Boire I, Aquino CC, Fasano A, Poon YY, Fallis M, Lang AE, Hodaie M, Kalia SK, Lozano A, Moro E
Brain Stimul 2016 Nov-Dec;9(6):905-910. Epub 2016 Oct 4 doi: 10.1016/j.brs.2016.07.009. PMID: 27743838
Alpha-actinin and myosin light chains in congenital nemaline myopathy.
Wallgren-Pettersson C, Arjomaa P, Holmberg C
Pediatr Neurol 1990 May-Jun;6(3):171-4. doi: 10.1016/0887-8994(90)90058-9. PMID: 2360957
Genetics of congenital nemaline myopathy.
Kondo K, Yuasa T
Muscle Nerve 1980 Jul-Aug;3(4):308-15. doi: 10.1002/mus.880030407. PMID: 6997732

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