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Purpose <p><i>SELENON</i> -related congentital myopathy is a rare autosomal recessive congenital myopathy characterized by early-onset axial weakness, spinal rigidity, and progressive respiratory insufficiency. Although cases have been reported in several Middle Eastern populations, this condition has not previously been described in Lebanon. The purpose of this study is to report the first Lebanese cases of <i>SELENON</i>-related congenital myopathy and to highlight the role of exome sequencing in establishing a precise diagnosis in a previously unreported geographic setting.</p> Methods <p>We conducted a clinical and genetic evaluation of affected individuals from three unrelated Lebanese families presenting with axial hypotonia, spinal stiffness, and respiratory involvement suggestive of an underlying myopathy. Detailed clinical assessments were performed, followed by exome sequencing to identify potential pathogenic variants. Genetic findings were interpreted in correlation with clinical phenotypes.</p> Results <p>Exome sequencing identified pathogenic or likely pathogenic variants in the&#xa0;<i>SELENON</i>&#xa0;gene in all three families, confirming the diagnosis of <i>SELENON</i>-related congenital myopathy. Clinically, patients demonstrated early axial weakness, progressive spinal rigidity, and varying degrees of respiratory compromise. A history of consanguinity was noted in the families, consistent with the autosomal recessive inheritance pattern. The use of exome sequencing was instrumental in achieving a definitive diagnosis, particularly given the nonspecific clinical presentation and the rarity of the condition in Lebanon.</p> Conclusion <p>This report represents the first documented cases of <i>SELENON</i>-related congenital myopathy in Lebanese patients. Our findings underscore the clinical heterogeneity of the disorder and emphasize the added value of exome sequencing in diagnosing rare neuromuscular diseases, especially in regions where such conditions are unfamiliar or underrecognized.</p>

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SELENON -related congenital myopathies: first report of Lebanese cases

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月24日

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  • Dina Al Haj,
  • Lynn Daoud,
  • Rimane Abi Younes,
  • Edouard Sayad,
  • Alain Sayad,
  • Hicham Mansour,
  • Abeer Hani

摘要

Purpose

SELENON -related congentital myopathy is a rare autosomal recessive congenital myopathy characterized by early-onset axial weakness, spinal rigidity, and progressive respiratory insufficiency. Although cases have been reported in several Middle Eastern populations, this condition has not previously been described in Lebanon. The purpose of this study is to report the first Lebanese cases of SELENON-related congenital myopathy and to highlight the role of exome sequencing in establishing a precise diagnosis in a previously unreported geographic setting.

Methods

We conducted a clinical and genetic evaluation of affected individuals from three unrelated Lebanese families presenting with axial hypotonia, spinal stiffness, and respiratory involvement suggestive of an underlying myopathy. Detailed clinical assessments were performed, followed by exome sequencing to identify potential pathogenic variants. Genetic findings were interpreted in correlation with clinical phenotypes.

Results

Exome sequencing identified pathogenic or likely pathogenic variants in the SELENON gene in all three families, confirming the diagnosis of SELENON-related congenital myopathy. Clinically, patients demonstrated early axial weakness, progressive spinal rigidity, and varying degrees of respiratory compromise. A history of consanguinity was noted in the families, consistent with the autosomal recessive inheritance pattern. The use of exome sequencing was instrumental in achieving a definitive diagnosis, particularly given the nonspecific clinical presentation and the rarity of the condition in Lebanon.

Conclusion

This report represents the first documented cases of SELENON-related congenital myopathy in Lebanese patients. Our findings underscore the clinical heterogeneity of the disorder and emphasize the added value of exome sequencing in diagnosing rare neuromuscular diseases, especially in regions where such conditions are unfamiliar or underrecognized.