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Cap myopathy

MedGen UID:
777197
•Concept ID:
C3710589
•
Congenital Abnormality; Disease or Syndrome
Synonyms: Cap Disease; Cap Myopathy; Congenital Myopathy with Caps
SNOMED CT: Cap myopathy (703532002); Cap disease (703532002); Congenital myopathy with caps (703532002)
Modes of inheritance:
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 dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015753
Orphanet: ORPHA171881

Definition

Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Cap myopathy

Professional guidelines

PubMed

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C
Hum Mutat 2014 Jul;35(7):779-90. Epub 2014 May 1 doi: 10.1002/humu.22554. PMID: 24692096Free PMC Article

Recent clinical studies

Etiology

Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.
Rodríguez Cruz PM, Sewry C, Beeson D, Jayawant S, Squier W, McWilliam R, Palace J
Neuromuscul Disord 2014 Dec;24(12):1103-10. Epub 2014 Jul 30 doi: 10.1016/j.nmd.2014.07.005. PMID: 25127990
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C
Hum Mutat 2014 Jul;35(7):779-90. Epub 2014 May 1 doi: 10.1002/humu.22554. PMID: 24692096Free PMC Article

Diagnosis

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.
Kiiski KJ, Lehtokari VL, Vihola AK, Laitila JM, Huovinen S, Sagath LJ, Evilä AE, Paetau AE, Sewry CA, Hackman PB, Pelin KB, Wallgren-Pettersson C, Udd B
Neuromuscul Disord 2019 Feb;29(2):97-107. Epub 2018 Dec 20 doi: 10.1016/j.nmd.2018.12.007. PMID: 30679003
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C
Hum Mutat 2014 Jul;35(7):779-90. Epub 2014 May 1 doi: 10.1002/humu.22554. PMID: 24692096Free PMC Article
Novel TPM3 mutation in a family with cap myopathy and review of the literature.
Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG
Neuromuscul Disord 2014 Feb;24(2):117-24. Epub 2013 Oct 23 doi: 10.1016/j.nmd.2013.10.002. PMID: 24239060
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ
Brain 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344. PMID: 23413262Free PMC Article
Cap disease due to mutation of the beta-tropomyosin gene (TPM2).
Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN
Neuromuscul Disord 2009 May;19(5):348-51. Epub 2009 Apr 3 doi: 10.1016/j.nmd.2009.03.003. PMID: 19345583

Therapy

Myopalladin promotes muscle growth through modulation of the serum response factor pathway.
Filomena MC, Yamamoto DL, Caremani M, Kadarla VK, Mastrototaro G, Serio S, Vydyanath A, Mutarelli M, Garofalo A, Pertici I, Knöll R, Nigro V, Luther PK, Lieber RL, Beck MR, Linari M, Bang ML
J Cachexia Sarcopenia Muscle 2020 Feb;11(1):169-194. Epub 2019 Oct 24 doi: 10.1002/jcsm.12486. PMID: 31647200Free PMC Article
Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.
Rodríguez Cruz PM, Sewry C, Beeson D, Jayawant S, Squier W, McWilliam R, Palace J
Neuromuscul Disord 2014 Dec;24(12):1103-10. Epub 2014 Jul 30 doi: 10.1016/j.nmd.2014.07.005. PMID: 25127990

Prognosis

A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.
McAdow J, Yang S, Ou T, Huang G, Dobbs MB, Gurnett CA, Greenberg MJ, Johnson AN
JCI Insight 2022 Jun 22;7(12) doi: 10.1172/jci.insight.152466. PMID: 35579956Free PMC Article
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C
Hum Mutat 2014 Jul;35(7):779-90. Epub 2014 May 1 doi: 10.1002/humu.22554. PMID: 24692096Free PMC Article
Novel TPM3 mutation in a family with cap myopathy and review of the literature.
Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG
Neuromuscul Disord 2014 Feb;24(2):117-24. Epub 2013 Oct 23 doi: 10.1016/j.nmd.2013.10.002. PMID: 24239060
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ
Brain 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344. PMID: 23413262Free PMC Article
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J
Neuromuscul Disord 2010 Apr;20(4):238-40. Epub 2010 Mar 19 doi: 10.1016/j.nmd.2010.01.011. PMID: 20303757

Clinical prediction guides

A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.
McAdow J, Yang S, Ou T, Huang G, Dobbs MB, Gurnett CA, Greenberg MJ, Johnson AN
JCI Insight 2022 Jun 22;7(12) doi: 10.1172/jci.insight.152466. PMID: 35579956Free PMC Article
Myopalladin promotes muscle growth through modulation of the serum response factor pathway.
Filomena MC, Yamamoto DL, Caremani M, Kadarla VK, Mastrototaro G, Serio S, Vydyanath A, Mutarelli M, Garofalo A, Pertici I, Knöll R, Nigro V, Luther PK, Lieber RL, Beck MR, Linari M, Bang ML
J Cachexia Sarcopenia Muscle 2020 Feb;11(1):169-194. Epub 2019 Oct 24 doi: 10.1002/jcsm.12486. PMID: 31647200Free PMC Article
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.
Merlini L, Sabatelli P, Antoniel M, Carinci V, Niro F, Monetti G, Torella A, Giugliano T, Faldini C, Nigro V
Skelet Muscle 2019 May 27;9(1):14. doi: 10.1186/s13395-019-0199-9. PMID: 31133047Free PMC Article
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C
Hum Mutat 2014 Jul;35(7):779-90. Epub 2014 May 1 doi: 10.1002/humu.22554. PMID: 24692096Free PMC Article
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ
Brain 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344. PMID: 23413262Free PMC Article

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