Two heterozygous variants were detected in genes associated with autosomal dominant spinal muscular atrophy and CMT2 (BICD2 and TRPV4) and one homozygous variant was detected in SIGMAR1, a gene associated with autosomal recessive dHMN and juvenile ALS. This evidence concerns the gene SIGMAR1 and neuronopathy, distal hereditary motor, autosomal recessive.