Nemaline myopathies: A brief review and a clinical case
https://doi.org/10.66825/2949-4664-apps-3-3-60-65
Abstract
Nemaline myopathies (NM) represent a genetically and clinically heterogeneous group of congenital myopathies, the morphological hallmark of which is the presence of nemaline (rodlike) bodies in muscle fibers. In recent years, the introduction of high-throughput sequencing has elucidated of the etiology of this disease, with more than 12 mutations leading to the development of nemaline myopathies being identified. The classical signs include diffuse muscle hypotonia and weakness, which is especially pronounced in the proximal regions, facial, neck, and trunk muscles, as well as decreased or absent tendon reflexes. Dysmorphic features (dolichocephaly, higharched palate, micrognathia), skeletal deformities (kyphoscoliosis, pectus excavatum, clubfoot), and joint contractures are often observed. Currently, there exists no specific pathogenetic therapy. The treatment is largely supportive and relies on a multidisciplinary approach, including respiratory support, nutritional support, orthopedic correction, and cardiological monitoring.
Keywords
Supporting agencies: No external funding was attracted.
About the Authors
F. I. Nakhusheva
Research Clinical Institute of Childhood of the Moscow Region
Russian Federation
Competing Interests:
Russian Federation
Fatima I. Nakhusheva, Head of the 3rd Psychoneurological Department, Children’s Psychoneurological Center for Children with Central Nervous System Lesions and Mental Disorders,
24 A, bldg. 1, Comintern str., Mytishchi, 141009
Competing Interests:
The authors declare no conflict of interest
A. V. Serov
Research Clinical Institute of Childhood of the Moscow Region
Russian Federation
Competing Interests:
Russian Federation
Artem V. Serov, Neurologist, 3rd Psychoneurological Department, Children’s Psychoneurological Center for Children with Central Nervous System Lesions and Mental Disorders
24 A, bldg. 1, Comintern str., Mytishchi, 141009
Competing Interests:
The authors declare no conflict of interest
References
1. Sewry C.A., Laitila J.M., Wallgren-Pettersson C. Nemaline myopathies: a current view. J Muscle Res Cell Motil. 2019;40(2):111–126. doi: 10.1007/s10974-019-09519-9.
2. Laitila J., Wallgren-Pettersson C. Recent advances in nemaline myopathy. Curr Opin Neurol. 2021;34(5):663– 670. doi: 10.1016/j.nmd.2021.07.012.
3. Lehtokari V.L., Kiiski K., Sandaradura S.A., et al. Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat. 2014;35(12):1418–1426. doi: 10.1002/humu.22693.
4. Nowak K.J., Wattanasirichaigoon D., Goebel H.H., et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 1999;23(2):208–212. doi: 10.1038/13837.
5. Gupta V.A., Ravenscroft G. Nemaline myopathy: from genes to therapies. Pediatr Neurol. 2020;110:12–19. doi: 10.1016/s0960-8966(00)00177-2.
6. Ochala J. Nemaline myopathy. In: Bertini J, ed. Handbook of Clinical Neurology. Vol 173. Elsevier; 2021:447– 453. doi: 10.1073/pnas.1001733107.
7. Ottenheijm C.A., Hooijman P., DeChene E.T., et al. Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). J Struct Biol. 2010;170(2):334–343. doi: 10.1016/j.jsb.2009.11.013.
8. Garg A., O’Rourke J., Long C., et al. KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J Clin Invest. 2014;124(8):3529–3539. doi: 10.1172/JCI74994.
9. North K.N., Wang C.H., Clarke N., et al. Nemaline myopathy: current concepts. J Med Genet. 2014;51(1):1–14. doi: 10.1136/jmg.34.9.705.
10. Ryan M.M., Schnell C., Strickland C.D., et al. The clinical and genetic heterogeneity of nemaline myopathy. Ann Neurol. 2003;54(3):347–357. doi: 10.1016/s1471-4914(01)02089-5.
11. O’Grady G.L., Lek M., Lamande S.R., et al. Diagnosis and genetic testing in nemaline myopathy: an international survey of neurologists. Neuromuscul Disord. 2016;26(6):337–343. doi: 10.7759/cureus.56866.
12. Wang C.H., Dowling J.J., North K., et al. Consensus statement on standard of care for congenital myopathies. J Child Neurol. 2012;27(3):363–382. doi: 10.1177/0883073812436605.
13. Sandaradura S.A., Bournazos A., Mallawaarachchi A., et al. Nemaline myopathy and non-obstructive cardiomyopathy in childhood: the importance of cardiac screening. Neuromuscul Disord. 2018;28(6):514–518. doi: 10.1002/humu.23385.
14. Schoffler P., Scharf F., Mrotzek S., et al. Long-term survival in a patient with TNNT1 nemaline myopathy treated with levothyroxine. Neurol Genet. 2020;6(6): e514. doi: 10.1093/hmg/ddy233.
15. Colombo I, Scoto M, Manzur AY, et al. Congenital myopathies: Natural history of a large pediatric cohort. Neurology. 2015;85(11):922–930. doi: 10.1212/WNL.0000000000001110.
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For citations:
Nakhusheva F.I., Serov A.V. Nemaline myopathies: A brief review and a clinical case. Archives of Pediatrics and Pediatric Surgery. 2025;3(3):60-65. (In Russ.) https://doi.org/10.66825/2949-4664-apps-3-3-60-65
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