IMPACT OF GENOMIC CHARACTERIZATION IN PATIENTS WITH SPINAL MUSCULAR ATROPHY NO 5q

Abstract

Introduction: Spinal Muscular Atrophy (SMA), is defined as a set of hereditary neurodegenerative disorders causing phenotypic and genotypic variability generating an impact on quality of life, psychosocial, emotional and functional development, considered in Colombia orphan disease in relation to its low prevalence, chronicity and high complexity. Objective: To describe, characterize and correlate phenotypically and genotypically a patient with clinical suspicion of neurodegenerative disease. Clinical case: A 32-year-old female patient with clinical picture consisting of equinismus, varus, hindfoot supination, right forefoot adduction and wrist limitation with subsequent weakness and muscle atrophy predominantly in the lower limbs, generalized areflexia and positive Gowers sign, with suspicion of progressive degenerative neuromuscular disease, endocrine, neuromuscular, cardiovascular studies, sural nerve biopsy and genetic study were requested. Results: Biopsy of sural nerve with loss of axons with little demyelination, and genomic study clinical exome sequencing trio performed using Illumina technology with identification of variants with pathogenic clinical significance in the NOD2 gene with heterozygous zygosity and homozygous DYNC2H1, finally gene interaction network is performed by GeneMania program determining gene associations. Conclusion: 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 to this pathology, a specific diagnosis impacts on the treatment, prognosis and morbimortality attributed, establishing heritability risk and genetic counseling for the sake of preventive, predictive, personalized and participatory medicine.