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Intermediate nemaline myopathy

MedGen UID:
1803914
•Concept ID:
C5680452
•
Disease or Syndrome
Synonyms: Intermediate congenital nemaline myopathy; Intermediate congenital NM; intermediate nemaline myopathy
SNOMED CT: Intermediate nemaline myopathy (1197156008)
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 dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015736
Orphanet: ORPHA171433

Definition

A type of nemaline myopathy that shows features of typical nemaline myopathy in neonates with a more severe progression. Neonates present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with this disease. The transmission pattern of the disease is autosomal recessive or dominant. [from SNOMEDCT_US]

Term Hierarchy

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

Professional guidelines

PubMed

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
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, Goebel HH, North KN, Beggs AH, Laing NG; ENMC International Consortium On Nemaline Myopathy
Neuromuscul Disord 2004 Sep;14(8-9):461-70. doi: 10.1016/j.nmd.2004.03.006. PMID: 15336686

Recent clinical studies

Etiology

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
Nemaline myopathy: clinical, histochemical and immunohistochemical features.
Youssef NC, Scola RH, Lorenzoni PJ, Werneck LC
Arq Neuropsiquiatr 2009 Sep;67(3B):886-91. doi: 10.1590/s0004-282x2009000500020. PMID: 19838523

Diagnosis

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
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, Goebel HH, North KN, Beggs AH, Laing NG; ENMC International Consortium On Nemaline Myopathy
Neuromuscul Disord 2004 Sep;14(8-9):461-70. doi: 10.1016/j.nmd.2004.03.006. PMID: 15336686
The role of immunocytochemistry in congenital myopathies.
Sewry CA
Neuromuscul Disord 1998 Aug;8(6):394-400. doi: 10.1016/s0960-8966(98)00053-4. PMID: 9713857
Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins.
van der Ven PF, Jap PH, ter Laak HJ, Nonaka I, Barth PG, Sengers RC, Stadhouders AM, Ramaekers FC
J Neurol Sci 1995 Apr;129(2):199-213. doi: 10.1016/0022-510x(94)00282-s. PMID: 7608737
Vimentin and desmin in maturing skeletal muscle and developmental myopathies.
Sarnat HB
Neurology 1992 Aug;42(8):1616-24. doi: 10.1212/wnl.42.8.1616. PMID: 1641160

Prognosis

Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy.
Galli RA, Borsboom TC, Gineste C, Brocca L, Rossi M, Hwee DT, Malik FI, Bottinelli R, Gondin J, Pellegrino MA, de Winter JM, Ottenheijm CAC
J Gen Physiol 2024 Apr 1;156(4) Epub 2024 Feb 20 doi: 10.1085/jgp.202313471. PMID: 38376469Free PMC Article
Synaptopodin-2 Isoforms Have Specific Binding Partners and Display Distinct, Muscle Cell Type-Specific Expression Patterns.
Lohanadan K, Assent M, Linnemann A, Schuld J, Heukamp LC, Krause K, Vorgerd M, Reimann J, Schänzer A, Kirfel G, Fürst DO, Van der Ven PFM
Cells 2023 Dec 30;13(1) doi: 10.3390/cells13010085. PMID: 38201288Free PMC Article
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
Nemaline myopathy: clinical, histochemical and immunohistochemical features.
Youssef NC, Scola RH, Lorenzoni PJ, Werneck LC
Arq Neuropsiquiatr 2009 Sep;67(3B):886-91. doi: 10.1590/s0004-282x2009000500020. PMID: 19838523
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

Clinical prediction guides

Synaptopodin-2 Isoforms Have Specific Binding Partners and Display Distinct, Muscle Cell Type-Specific Expression Patterns.
Lohanadan K, Assent M, Linnemann A, Schuld J, Heukamp LC, Krause K, Vorgerd M, Reimann J, Schänzer A, Kirfel G, Fürst DO, Van der Ven PFM
Cells 2023 Dec 30;13(1) doi: 10.3390/cells13010085. PMID: 38201288Free PMC Article
TNNT1 myopathy with novel compound heterozygous mutations.
Lee S, Eum J, Park S, Ki S, Hwang BJ, Kee Y, Chae JH
Neuromuscul Disord 2022 Feb;32(2):176-184. Epub 2021 Dec 16 doi: 10.1016/j.nmd.2021.12.003. PMID: 35165004
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
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.
Lehtokari VL, Pelin K, Donner K, Voit T, Rudnik-Schöneborn S, Stoetter M, Talim B, Topaloglu H, Laing NG, Wallgren-Pettersson C
Eur J Hum Genet 2008 Sep;16(9):1055-61. Epub 2008 Apr 2 doi: 10.1038/ejhg.2008.60. PMID: 18382475
Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins.
van der Ven PF, Jap PH, ter Laak HJ, Nonaka I, Barth PG, Sengers RC, Stadhouders AM, Ramaekers FC
J Neurol Sci 1995 Apr;129(2):199-213. doi: 10.1016/0022-510x(94)00282-s. PMID: 7608737

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