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Congenital myopathy

MedGen UID:
124381
•Concept ID:
C0270960
•
Disease or Syndrome
Synonym: Congenital Myopathy, Undefined/Nonspecific
 
Related gene: CLCN1
 
Monarch Initiative: MONDO:0019952
OMIM® Phenotypic series: PS117000
Orphanet: ORPHA97245

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Congenital myopathy in Orphanet.

Professional guidelines

PubMed

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.
Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Giray Bozkaya Ö, Çağlayan AO, Hız Kurul S, Yiş U
Acta Neurol Belg 2023 Dec;123(6):2325-2335. Epub 2023 Sep 1 doi: 10.1007/s13760-023-02370-3. PMID: 37656362
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B
Genet Med 2020 Dec;22(12):2029-2040. Epub 2020 Aug 11 doi: 10.1038/s41436-020-0914-2. PMID: 32778822
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article

Recent clinical studies

Etiology

Distal Myopathies.
Felice KJ
Neurol Clin 2020 Aug;38(3):637-659. Epub 2020 Jun 11 doi: 10.1016/j.ncl.2020.03.007. PMID: 32703474
Differentiating Congenital Myopathy from Congenital Muscular Dystrophy.
Harmelink M
Clin Perinatol 2020 Mar;47(1):197-209. Epub 2019 Oct 11 doi: 10.1016/j.clp.2019.10.005. PMID: 32000926
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ
Continuum (Minneap Minn) 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792. PMID: 31794464
Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C
J Muscle Res Cell Motil 2019 Jun;40(2):111-126. Epub 2019 Jun 21 doi: 10.1007/s10974-019-09519-9. PMID: 31228046Free PMC Article
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH
Neurology 2013 Oct 1;81(14):1205-14. Epub 2013 Aug 23 doi: 10.1212/WNL.0b013e3182a6ca62. PMID: 23975875Free PMC Article

Diagnosis

Pediatric Neuromuscular Diseases.
Rathore G, Kang PB
Pediatr Neurol 2023 Dec;149:1-14. Epub 2023 Aug 29 doi: 10.1016/j.pediatrneurol.2023.08.034. PMID: 37757659
Neonatal and infantile hypotonia.
Younger DS
Handb Clin Neurol 2023;195:401-423. doi: 10.1016/B978-0-323-98818-6.00011-X. PMID: 37562880
Distal Myopathies.
Felice KJ
Neurol Clin 2020 Aug;38(3):637-659. Epub 2020 Jun 11 doi: 10.1016/j.ncl.2020.03.007. PMID: 32703474
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ
Continuum (Minneap Minn) 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792. PMID: 31794464
Muscle ultrasound.
Pillen S, Boon A, Van Alfen N
Handb Clin Neurol 2016;136:843-53. doi: 10.1016/B978-0-444-53486-6.00042-9. PMID: 27430445

Therapy

MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.
Giraud Q, Spiegelhalter C, Messaddeq N, Laporte J
Brain 2023 Oct 3;146(10):4158-4173. doi: 10.1093/brain/awad251. PMID: 37490306Free PMC Article
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.
Bouman K, Dittrich ATM, Groothuis JT, van Engelen BGM, Janssen MCH, Voermans NC, Draaisma JMT, Erasmus CE
J Neuromuscul Dis 2023;10(1):1-13. doi: 10.3233/JND-221543. PMID: 36314217Free PMC Article
Genetic therapy for congenital myopathies.
Maani N, Karolczak S, Dowling JJ
Curr Opin Neurol 2021 Oct 1;34(5):727-737. doi: 10.1097/WCO.0000000000000978. PMID: 34267051
Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now?
Adaikina A, Hofman PL, O'Grady GL, Gusso S
Pediatr Neurol 2020 Mar;104:13-18. Epub 2019 Nov 29 doi: 10.1016/j.pediatrneurol.2019.10.008. PMID: 31926608
Trachelas tranquillus envenomation with presumed bacterial superinfection in a child.
Smith RJ, Osterhoudt K, Lin RJ, Yan AC
Pediatr Dermatol 2018 Nov;35(6):e422-e424. Epub 2018 Sep 19 doi: 10.1111/pde.13677. PMID: 30230593

Prognosis

Congenital myopathies.
Younger DS
Handb Clin Neurol 2023;195:533-561. doi: 10.1016/B978-0-323-98818-6.00027-3. PMID: 37562885
Contribution of muscle MRI for diagnosis of myopathy.
Venturelli N, Tordjman M, Ammar A, Chetrit A, Renault V, Carlier RY
Rev Neurol (Paris) 2023 Jan-Feb;179(1-2):61-80. Epub 2022 Dec 21 doi: 10.1016/j.neurol.2022.12.002. PMID: 36564254
Outcomes and Complications in Management of Congenital Myopathy Early-Onset Scoliosis.
Magee L, Bram JT, Anari JB, Ramo B, Mayer OH, Matsumoto H, Brooks JT, Andras L, Lark R, Fitzgerald R, Truong W, Li Y, Karlin L, Schwend R, Weinstein S, Roye D, Snyder B, Flynn JM, Oetgen M, Smith J, Cahill PJ; PSSG
J Pediatr Orthop 2021 Oct 1;41(9):531-536. doi: 10.1097/BPO.0000000000001922. PMID: 34325442
Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C
J Muscle Res Cell Motil 2019 Jun;40(2):111-126. Epub 2019 Jun 21 doi: 10.1007/s10974-019-09519-9. PMID: 31228046Free PMC Article
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article

Clinical prediction guides

Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations.
Iyer A, Lauerova B, Mariano J, Haberlová J, Lassuthova P, Zidkova J, Wright NT, Kontrogianni-Konstantopoulos A
Gene 2024 Jun 5;910:148339. Epub 2024 Mar 2 doi: 10.1016/j.gene.2024.148339. PMID: 38438057Free PMC Article
PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome.
Amado NG, Nosyreva ED, Thompson D, Egeland TJ, Ogujiofor OW, Yang M, Fusco AN, Passoni N, Mathews J, Cantarel B, Baker LA, Syeda R
Nat Commun 2024 Jan 6;15(1):339. doi: 10.1038/s41467-023-44594-0. PMID: 38184690Free PMC Article
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB
Acta Neuropathol Commun 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. PMID: 30611313Free PMC Article
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article
Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?
Dirksen RT, Avila G
Trends Cardiovasc Med 2002 Jul;12(5):189-97. doi: 10.1016/s1050-1738(02)00163-9. PMID: 12161072

Recent systematic reviews

KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.
Buchignani B, Marinella G, Pasquariello R, Sgherri G, Frosini S, Santorelli FM, Orsini A, Battini R, Astrea G
Genes (Basel) 2024 Feb 5;15(2) doi: 10.3390/genes15020208. PMID: 38397198Free PMC Article
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R
Genes (Basel) 2023 Jun 28;14(7) doi: 10.3390/genes14071363. PMID: 37510268Free PMC Article
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF, Altamura C, Vicart S, Fontaine B
J Neuromuscul Dis 2021;8(3):357-381. doi: 10.3233/JND-200582. PMID: 33325393Free PMC Article
Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review.
Leung DG
J Neurol 2017 Jul;264(7):1320-1333. Epub 2016 Nov 25 doi: 10.1007/s00415-016-8350-6. PMID: 27888415Free PMC Article
Treatment for swallowing difficulties (dysphagia) in chronic muscle disease.
Hill M, Hughes T, Milford C
Cochrane Database Syst Rev 2004;(2):CD004303. doi: 10.1002/14651858.CD004303.pub2. PMID: 15106246

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