Diagnosis of spinal muscular atrophy in the genetics consultation. A case study.

Abstract

Spinal muscular atrophy corresponds to the group of genetically based diseases that affects the neurons of the anterior horn of the spinal cord. We present the case of a patient referred from neuropediatrics for presenting a clinical phenotype compatible with Spinal Muscular Atrophy type 2. After clinical evaluation, a sample is taken for molecular study of the SMNI gene using the MLPA technique. The results confirm the suspected diagnosis. More specifically, a homozygous deletion of two probes (L30891-L29983) was identified for exons 7 and 8 of the SMN1 gene. Homozygous deletion was detected for exon 5 of the NAIP gene (probe L00811). With these results, we proceeded to genetic counseling of relatives with increased genetic risk.