Impact of genomic characterization in patients with non-5q spinal muscular atrophy.

Background: Spinal Muscular Atrophy (SMA), is defined as a set of hereditary neurodegenerative disorders causing a high phenotypic and genotypic variability that generate 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, the objective is 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 equinus, varus, rearfoot supination, right forefoot adduction and limitation in wrist extension with subsequent weakness and muscle atrophy predominantly in the lower limbs, generalized areflexia and positive Gowers sign, with suspicion of progressive degenerative neuromuscular disease, an endocrine, neuromuscular and cardiovascular study, sural nerve biopsy and genetic study were requested. Results: Biopsy of sural nerve with loss of axons with little demyelination, hypertrophy of Schwann cells, and trio genomic study of clinical exome sequencing performed by Illumina technology with identification of variants with pathogenic clinical significance in the NOD2 gene with heterozygous zygosity and homozygous DYNC2H1, finally the gene interaction network is performed using the GeneMania program determining the 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 with this pathology, a specific diagnosis impacts on the treatment, prognosis and morbimortality attributed, establishing the risk of heritability and genetic counseling for the sake of a preventive, predictive, personalized and participatory medicine.