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Severe congenital nemaline myopathy

MedGen UID:
1805110
•Concept ID:
C5680451
•
Disease or Syndrome
Synonyms: severe congenital (neonatal) NM; severe congenital nemaline myopathy
SNOMED CT: Severe congenital nemaline myopathy (1197157004)
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:0015735
Orphanet: ORPHA171430

Definition

A severe form of nemaline myopathy with characteristics of severe hypotonia with little spontaneous movement in neonates. Neonates have sucking and swallowing difficulties, and gastroesophageal reflux, which leads to failure to thrive. Involvement of diaphragm and intercostal muscles contributes to respiratory insufficiency. Cardiomyopathy and arthrogryposis may occur. The ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of the disease. Transmission is autosomal recessive or occurs sporadically. Survival after infancy is rare. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere congenital nemaline myopathy

Professional guidelines

PubMed

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
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB
Acta Neuropathol Commun 2014 Apr 12;2:44. doi: 10.1186/2051-5960-2-44. PMID: 24725366Free PMC Article

Recent clinical studies

Etiology

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K
Am J Med Genet A 2012 Apr;158A(4):772-8. Epub 2012 Mar 9 doi: 10.1002/ajmg.a.35243. PMID: 22407809

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
Severe congenital nemaline myopathy: a personal perspective.
Marinone K
Neonatal Netw 1998 Feb;17(1):29-32. PMID: 9526359

Prognosis

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
Mutations in the nebulin gene can cause severe congenital nemaline myopathy.
Wallgren-Pettersson C, Donner K, Sewry C, Bijlsma E, Lammens M, Bushby K, Giovannucci Uzielli ML, Lapi E, Odent S, Akcoren Z, Topaloğlu H, Pelin K
Neuromuscul Disord 2002 Oct;12(7-8):674-9. doi: 10.1016/s0960-8966(02)00065-2. PMID: 12207937
Severe congenital nemaline myopathy: a personal perspective.
Marinone K
Neonatal Netw 1998 Feb;17(1):29-32. PMID: 9526359
Intranuclear rods in severe congenital nemaline myopathy.
Rifai Z, Kazee AM, Kamp C, Griggs RC
Neurology 1993 Nov;43(11):2372-7. doi: 10.1212/wnl.43.11.2372. PMID: 8232959
A new case of severe congenital nemaline myopathy.
Buonocore G, Balestri P, Toti P, Bagnoli F
Acta Paediatr 1993 Dec;82(12):1082-4. doi: 10.1111/j.1651-2227.1993.tb12819.x. PMID: 8155933

Clinical prediction guides

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.
Wallgren-Pettersson C, Donner K, Sewry C, Bijlsma E, Lammens M, Bushby K, Giovannucci Uzielli ML, Lapi E, Odent S, Akcoren Z, Topaloğlu H, Pelin K
Neuromuscul Disord 2002 Oct;12(7-8):674-9. doi: 10.1016/s0960-8966(02)00065-2. PMID: 12207937
A new case of severe congenital nemaline myopathy.
Buonocore G, Balestri P, Toti P, Bagnoli F
Acta Paediatr 1993 Dec;82(12):1082-4. doi: 10.1111/j.1651-2227.1993.tb12819.x. PMID: 8155933

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