Wohlfart Kugelberg Welander Disease A case report with genomic analysis

Spinal Muscular Atrophy (SMA) comprises a group of inherited disorders marked by hypotonia, muscle weakness and atrophy due to degeneration of anterior horn cells of spinal cord. Wohlfart Kugelberg Welander Disease or Type 3 SMA presents with milder weakness and onset after the age of 18 months. We present one such case with genetic analysis showing homozygous deletion of exon 8 sparing exon 7 in the Survivor Motor Gene 1 (SMN1) which is a rare occurrence