Pediatric nemaline myopathy: a review of case reports and case series
DOI:
https://doi.org/10.70577/sb79yx77Keywords:
nemaline myopathy; neuromuscular disease; genetics; pediatrics; respiratory failureAbstract
Pediatric nemaline myopathy is the most common non-dystrophic congenital myopathy, yet its clinical and genetic expression varies widely across patients. This study synthesizes the published evidence on clinical manifestations, genetic alterations, and mortality in pediatric patients with this diagnosis, through a systematic review of case reports and case series conducted according to the PRISMA 2020 guidelines, searching PubMed, Scopus, Web of Science, Cochrane Library, and Dialnet between 2010 and 2022. Ten studies met the inclusion criteria, contributing a total of 63 patients. ACTA1 (45.7%) and NEB (40.0%) accounted for most of the mutations identified. Clinically, axial and proximal muscle weakness (24.75%) and neonatal hypotonia (23.76%) predominated. Five patients died (7.9%), mainly from respiratory failure. These findings confirm a markedly heterogeneous disease, with persistent gaps in genetic characterization that support the need for multicenter studies with standardized methodology.
Downloads
References
1. North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, et al. Approach to the diagnosis of congenital myopathies. Rev. Neuromuscul Disord [Internet]. 2014 [citado 3 mar 2026];24(2):97-116. Disponible en: https://doi.org/10.1016/j.nmd.2013.11.003 DOI: https://doi.org/10.1016/j.nmd.2013.11.003
2. Fisher G, Mackels L, Markati T, Sarkozy A, Ochala J, Jungbluth H, Ramdas S, Servais L. Early clinical and pre-clinical therapy development in Nemaline myopathy. Rev. Expert Opin Ther Targets [Internet]. 2022 [citado 7 nov 2025];26(10): 853-867. Disponible en: https://doi.org/10.1080/14728222.2022.2157258 DOI: https://doi.org/10.1080/14728222.2022.2157258
3. Huang K, Bi FF, Yang H. A systematic review and meta-analysis of the prevalence of congenital myopathy. Rev. Front Neurol [Internet]. 2021 [citado 3 mar 2026];12:761636. Disponible en: https://doi.org/10.3389/fneur.2021.761636 DOI: https://doi.org/10.3389/fneur.2021.761636
4. Laitila J, Pettersson C. Recent advances in nemaline myopathy. Rev. J Neuromuscul Dis [Internet]. 2021 [citado 09 nov 2025];31(10): 955-967. Disponible en: https://doi.org/10.1016/j.nmd.2021.07.012 DOI: https://doi.org/10.1016/j.nmd.2021.07.012
5. Amburgey K, Acker M, Saeed S, Amin R, Beggs A, Bönnemann C, et al. A cross-sectional study of nemaline myopathy. Rev. Neurology [Internet]. 2021 [citado 15 nov 2025];96(10): e1425-e1436. Disponible en: https://doi.org/10.1212/WNL.0000000000011458 DOI: https://doi.org/10.1212/WNL.0000000000011458
6. de Winter JM, Ottenheijm CAC. Sarcomere dysfunction in nemaline myopathy. Rev. J Neuromuscul Dis [Internet]. 2017 [citado 10 mar 2026];4(2):99-113. Disponible en: https://doi.org/10.3233/JND-160200 DOI: https://doi.org/10.3233/JND-160200
7. Glyakina A, Galzitskaya O. Nemaline myopathy: structural features and therapeutic strategies. Rev. Biophys [Internet]. 2022 [citado 15 nov 2025]; 14(6):1527-38. Disponible en: https://doi.org/10.1007/s12551-022-01027-4 DOI: https://doi.org/10.1007/s12551-022-01027-4
8. Giannetti J., Souza L, Yamamoto G, Belisario M, Lazar M, Campos W, et al. Clinical and genetic characterization of pediatric patients with nemaline myopathy. Rev. Int J Mol Sci [Internet]. 2022 [citado 25 nov 2025];23(19):11995. Disponible en: https://doi.org/10.3390/ijms231911995 DOI: https://doi.org/10.3390/ijms231911995
9. Frezatti RSS, Tomaselli PJ, Record CJ, Wilson LA, Alves GM, Dominik N, et al. Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country. Rev. Brain Commun [Internet]. 2024 [citado 10 mar 2026];6(6):fcae342. Disponible en: https://doi.org/10.1093/braincomms/fcae342 DOI: https://doi.org/10.1093/braincomms/fcae342
10. Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. Rev. BMJ [Internet]. 2021 [citado 15 mar 2026];372:n71. Disponible en: https://doi.org/10.1136/bmj.n71 DOI: https://doi.org/10.1136/bmj.n71
11. Munn Z, Barker TH, Moola S, Tufanaru C, Stern C, McArthur A, et al. Methodological quality of case series studies: an introduction to the JBI critical appraisal tool. Rev. JBI Evid Synth [Internet]. 2020 [citado 15 mar 2026];18(10):2127-2133. Disponible en: https://doi.org/10.11124/JBISRIR-D-19-00099 DOI: https://doi.org/10.11124/JBISRIR-D-19-00099
12. Waisayarat J, Suriyonplengsaeng C, Khongkhatithum C, Rochanawutanon M. Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. Rev. Diagn Pathol [Internet]. 2015 [citado 13 ene 2026];10:27. Disponible en: https://doi.org/10.1186/s13000-015-0270-8 DOI: https://doi.org/10.1186/s13000-015-0270-8
13. Gatayama R, Ueno K, Nakamura H, Yanagi S, Ueda H, Yamagishi H, et al. Nemaline myopathy with dilated cardiomyopathy in childhood. Rev. Pediatrics [Internet]. 2013 [citado 13 ene 2026];131(6):e1986-90. Disponible en: https://doi.org/10.1542/peds.2012-1139 DOI: https://doi.org/10.1542/peds.2012-1139
14. Huang K, Luo Y, Li Q, Duan H, Bi F, Yang H, et al. Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy. Rev.Zhongguo Dang Dai Er Ke Za Zhiv [Internet]. 2018 [citado 13 ene 2026];20(10):804-808. Disponible en: https://doi.org/10.7499/j.issn.1008-8830.2018.10.004 DOI: https://doi.org/10.1016/j.jtho.2018.08.1317
15. Yin X, Pu C, Wang Z Li K, Wang H. Nemaline myopathy in a Chinese patient: clinical and genetic analysis. Rev. Acta Neurol Belg [Internet]. 2022 [citado 13 ene 2026];122(1):237-40. Disponible en: https://doi.org/10.1007/s13760-020-01542-9 DOI: https://doi.org/10.1007/s13760-020-01542-9
16. Hu XW, Tang WY, Gao J. Clinical features and gene mutation analysis of severe congenital nemaline myopathy in one neonate. Rev. Zhongguo Dang Dai Er Ke Za Zhi [Internet]. 2019 [citado 13 ene 2026];21(5):497-498. Disponible en: https://doi.org/10.7499/j.issn.1008-8830.2019.05.019
17. Mubaraki A. Nemaline Myopathy: A Case Report. Case Rep Neurol [Internet]. 2021 [citado 13 ene 2026];13 (2): 499–503. Disponible en: https://doi.org/10.1159/000517898 DOI: https://doi.org/10.1159/000517898
18. Mir A, Lemler M, Ramaciotti C, Blalock S, Ikemba C. Hypertrophic cardiomyopathy in a neonate associated with nemaline myopathy. Rev. Congenit Heart Dis [Internet].2012 [citado 18 ene 2026];7(4):E37-41. Disponible en: https://doi.org/10.1111/j.1747-0803.2011.00588.x DOI: https://doi.org/10.1111/j.1747-0803.2011.00588.x
19. Jiang C, Wang J, Lu H, et al. Clinical analysis of 15 pediatric patients with nemaline myopathy. Case Rep Med [Internet]. 2012[citado 18 ene 2026];2012:203602. Disponible en: https://doi.org/10.1155/2012/203602 DOI: https://doi.org/10.1155/2012/203602
20. Yin X., Pu C, Wang Q, Liu J. Mao Y. Características clínicas y patológicas de pacientes con miopatía nemalínica. Rev. Mol Med Rep [Internet]. 2014 [citado 26 ene 2026];10(2):175-182. Disponible en: https://doi.org/10.3892/mmr.2014.2184 DOI: https://doi.org/10.3892/mmr.2014.2184
21. Hildebrandt C, Genetti C, Logvinenko T, Win W, Barraza P, Hayes L, et al. Retrospective cohort analysis of clinical, molecular, and histopathologic characteristics of 275 patients with nemaline myopathy. Rev. Neurol Genet [Internet]. 2025[citado 31 ene 2026];11(4):e200277. Disponible en: https://doi.org/10.1212/NXG.0000000000200277 DOI: https://doi.org/10.1212/NXG.0000000000200277
22. Saito Y, Komaki H, Hattori A, Takeuchi F, Sasaki M, Kawabata K, et al. Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations. Rev. Neuromuscul Disord [Internet]. 2011 [citado 31 ene 2026];21(7):489-93. Disponible en: https://doi.org/10.1016/j.nmd.2011.03.004 DOI: https://doi.org/10.1016/j.nmd.2011.03.004
23. Moreno C, Artilheiro M, Fonseca A, Camelo C, de Medeiros G, Sassi F, et al. Clinical Manifestation of Nebulin-Associated Nemaline Myopathy. Neurol Genet [Internet]. 2023 [citado 26 ene 2026];9(1):e200056. Disponible en: https://doi.org/10.1212/NXG.0000000000200056 DOI: https://doi.org/10.1212/NXG.0000000000200056
24. van Kleef ESB, van Doorn JLM, Gaytant MA, de Weerd W, Vosse BAH, Wallgren-Pettersson C, et al. Respiratory muscle function in patients with nemaline myopathy. Rev. Neuromuscul Disord [Internet]. 2022 [citado 6 feb 2026];32(8):654-663. Disponible en: https://doi.org/10.1016/j.nmd.2022.06.009 DOI: https://doi.org/10.1016/j.nmd.2022.06.009
25. Kleiser B, Hackenbruch L, Schittenhelm J, Bornemann A, Haack T, Grimm A, et al. Unmasking MEGF10 myopathy: a rare cause of sudden respiratory failure in a young adult. Rev. Case Rep Neurol Med [Internet]. 2025 [citado 6 feb 2026];2025:6904563. Disponible en: https://doi.org/10.1155/crnm/6904563 DOI: https://doi.org/10.1155/crnm/6904563
26. Tiberi E, Costa S, De Rose D, Romeo D, Primiano G, Gaudino S, et al. Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck. Rev. Neurol Sci [Internet]. 2021 [citado 16 feb 2026];42(4):1549-53. Disponible en: https://doi.org/10.1007/s10072-020-04937-x DOI: https://doi.org/10.1007/s10072-020-04937-x
27. Ennis J, Dyment D, Michaud J, McMillan H. Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle. Rev. Can J Neurol Sci [Internet]. 2015 [citado 16 feb 2026];42(5):338-40. Disponible en: https://doi.org/10.1017/cjn.2015.59 DOI: https://doi.org/10.1017/cjn.2015.59
Downloads
Published
Issue
Section
License
Copyright (c) 2026 Silvia Carolina Villacres Gavilanes, María Paula Villagomez Mayorga, Lenin Carlos Gabriel Flores, Christian Fernando Ocaña Guzmán, Johana Estefania Orna Quintanilla (Autor/a)
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
