Resumo

MORENO GIRALDO, Lina Johanna  e  PONCE RAMIREZ, María Alejandra. Impact of Genomic Characterization in Patients with Non-5q Spinal Muscular Atrophy. Rev. Med [online]. 2023, vol.31, n.1, pp.25-41.  Epub 29-Dez-2023. ISSN 0121-5256.  https://doi.org/10.18359/rmed.6645.

Spinal Muscular Atrophy (SMA) is defined as a set of hereditary neurodegenerative disorders that cause phenotypic and genotypic variability, impacting the quality of life, psychosocial, emotional, and functional development of those affected. In Colombia, it is considered a rare disease due to its low prevalence, chronicity, and high complexity.

The objective of this case report is to describe, characterize, and correlate phenotypically and genotypically a patient with clinical suspicion of neurodegenerative disease. The patient is a 32-year-old female with a clinical picture of equinus, varus, supination of the hindfoot, adduction of the right forefoot, and limitation in wrists with subsequent weakness and predominantly lower limb muscle atrophy, generalized areflexia, and positive Gowers sign. Given the suspicion of progressive degenerative neuromuscular disease, endocrine, neuromuscular, cardiovascular studies, sural nerve biopsy, and genetic testing are requested.

The results show sural nerve biopsy with axonal loss with little demyelination, and genomic study using trio clinical exome sequencing performed using Illumina technology with identification of pathogenic clinically significant variants in the Nod2 gene with heterozygous and DYNC2H1 gene with homozygous status. Finally, a gene interaction network is created using the GeneMania program, determining gene associations.

The conclusion of this study was the diagnosis of Sma represents a challenge due to its wide phenotypic-genotypic variability. Although most patients are due to variants in the SmN1 gene, there are other non-5q genes associated with this pathology. A specific diagnosis impacts treatment, prognosis, and attributed morbidity and mortality, establishing heritability risk and genetic counseling for the sake of preventive, predictive, personalized, and participatory medicine.

Palavras-chave : Spinal Muscular Atrophy; Rare Disease; Neuromuscular; Genetic Characterization; Preventive Medicine.

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