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Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy

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Abstract

Background

Inherited nemaline myopathy is one of the most common congenital myopathies. This genetically heterogeneous disease is defined by the presence of nemaline bodies in muscle biopsy. The phenotypic spectrum is wide and cognitive involvement has been reported, although not extensively evaluated.

Methods

We report two nemaline myopathy patients presenting pronounced central nervous system involvement leading to functional compromise and novel facial and skeletal dysmorphic findings, possibly expanding the disease phenotype.

Results

One patient had two likely pathogenic NEB variants, c.2943G > A and c.8889 + 1G > A, and presented cognitive impairment and dysmorphic features, and the other had one pathogenic variant in ACTA1, c.169G > C (p.Gly57Arg), presenting autism spectrum disorder and corpus callosum atrophy. Both patients had severe cognitive involvement despite milder motor dysfunction.

Conclusion

We raise the need for further studies regarding the role of thin filament proteins in the central nervous system and for a systematic cognitive assessment of congenital myopathy patients.

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Data availability

All available data was included in the manuscript and associated tables and figures.

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Acknowledgements

This study received funding from the Brazilian National Council for Scientific and Technological Development (CNPq) through the author Pedro Braga Neto as research grant funding (productivity scholarship).

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Authors and Affiliations

  1. Department of Neurology, Faculdade de Medicina, Universidade Federal do Ceará, R. Alexandre Baraúna, 949, Rodolfo Teófilo, Fortaleza, CE, 60430-160, Brazil

    Paulo Ribeiro Nóbrega & Pedro Braga-Neto

  2. Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), Av. Dr. Arnaldo, 455, Cerqueira César, Pacaembu, São Paulo, 01246-903, Brazil

    Paulo Ribeiro Nóbrega, Anderson Rodrigues Brandão de Paiva, Clara Gontijo Camelo, Edmar Zanotelli & Cristiane Araujo Martins Moreno

  3. Faculty of Medicine, Unichristus University, Rua Vereador Paulo Mamede, 131, Fortaleza, CE, 60160-196, Brazil

    Paulo Ribeiro Nóbrega

  4. Center of Health Sciences, Universidade Estadual do Ceará, Av. Dr. Silas Munguba, 1700, Itaperi, Fortaleza, CE, 60714-903, Brazil

    Jorge Luiz de Brito de Souza, Rebeca Bessa Maurício & Pedro Braga-Neto

  5. Mendelics Genomic Analysis, Av. Braz Leme, 1631, Casa Verde, São Paulo, SP, 02511-000, Brazil

    Anderson Rodrigues Brandão de Paiva, David Schlesinger & Cristiane Araujo Martins Moreno

  6. Department of Radiology, Faculdade de Medicina da Universidade Federal do Ceará, R. Alexandre Baraúna, 949, Rodolfo Teófilo, Fortaleza, CE, 60430-160, Brazil

    Daniel Aguiar Dias

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  1. Paulo Ribeiro Nóbrega
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  2. Jorge Luiz de Brito de Souza
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  3. Rebeca Bessa Maurício
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Corresponding author

Correspondence to Paulo Ribeiro Nóbrega.

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The research has been approved by the local ethics committee under the number 5.952.628.

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Nóbrega, P.R., de Brito de Souza, J.L., Maurício, R.B. et al. Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy. Neurol Sci 45, 1225–1231 (2024). https://doi.org/10.1007/s10072-023-07128-6

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