Authors: T. Málková 1; M. Balaščaková 2; J. Zídková 3; J. Haberlová 4; H. Nestávalová 5; B. Jírová 1; K. Zárubová 1; B. Obermannová 1 Authors‘ workplace: Pediatrická klinika 2. LF UK a FN v Motole, Praha 1; Ústav biologie a lékařské genetiky 2. LF UK a FN v Motole, Praha 2; Centrum molekulární biologie a genetiky, FN Brno 3; Klinika dětské neurologie 2. LF UK a FN v Motole, Praha 4; Neurologická klinika 2. LF UK a FN v Motole, Praha 5 Published in: Gastroent Hepatol 2025; 79(6): 455-457 Category: Pediatric Gastroenterology and Hepatology: Case report doi: https://doi.org/10.48095/ccgh2025455
Swallowing disorder represents a serious clinical symptom that in childhood tends to be part of a complex disease, frequently of neurological origin. In the following text we present a case of a patient with a very rare cause of dysphagia combined with very mild manifestations of congenital myopathy due to genetically determined desminopathy with a bialelic homozygous mutation in the DES gene. The dominant manifestation in our patient was a severe form of swallowing disorder with massive silent aspirations of both liquid and semi-solid food, which led to the indication for percutaneous endoscopic gastrostomy placement during infancy. This case report extends the phenotypic spectrum of autosomal recessive desminopathy by adding dysphagia as an initial clinical manifestation and highlights the importance of genetic reassessment in children with atypical swallowing disorder.
swallowing disorder – desminopathy – percutaneous endoscopic gastrostomy
1. Goldfarb LG, Olivé M, Vicart P et al. Intermediate filament diseases: desminopathy. Adv Exp Med Biol 2008; 642 : 131–164. doi: 10.1007/978-0-387-84847-1_11.
2. Clemen CS, Herrmann H, Strelkov SV et al. Desminopathies: pathology and mechanisms. Acta Neuropathol 2012; 125 (1): 47–75. doi: 10.1007/s00401-012-1057-6.
3. Hauserman JG, Laverty CG, Donkervoort S et al. Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: therapeutic implications. HGG Adv 2024; 5 (2): 100274. doi: 10.1016/j.xhgg. 2024.100274.
4. Onore ME, Savarese M, Picillo E et al. Bi-allelic DES gene variants causing autosomal recessive myofibrillar myopathies affecting both skeletal muscles and cardiac function. Int J Mol Sci 2022; 23 (24): 15906. doi: 10.3390/ijms232415906.
5. Goldfarb LG, Dalakas MC. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest 2009; 119 (7): 1806–1813. doi: 10.1172/jci38027.
6. Shah F, Franklin KA, Holmlund T et al. Desmin and dystrophin abnormalities in upper airway muscles of snorers and patients with sleep apnea. Respir Res 2019; 20 (1): 31. doi: 10.1186/s12931-019-0999-9.
7. Polavarapu K, O’Neil D, Thompson R et al. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects. Neuromuscul Disord 2024; 39 : 10–18. doi: 10.1016/j.nmd.2024.03.011.
8. Durmus H Ayhan Ö, Cirak S et al. Neuromuscular endplate pathology in recessive desminopathies: lessons from man and mice. Neurology 2016; 87 (8): 799–805. doi: 10.1212/wnl.0000000000003004.
9. Cetin N, Balci-Hayta B, Gundesli H et al. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. J Med Genet 2013; 50 (7): 437–443. doi: 10.1136/jmedgenet-2012-101487.
Don‘t have an account? Create new account
Enter the email address that you registered with. We will send you instructions on how to set a new password.
