Low back pain as a presenting symptom in GNE myopathy

ABSTRACT

@#GNE myopathy is a rare autosomal recessive early adult-onset myopathy with slow progression that preferentially affects the tibialis anterior muscles and commonly spares the quadriceps femoris muscles. It is caused by biallelic mutations in GNE gene encoding for a single protein with key enzymatic activities in sialic acid biosynthetic pathway. However, diagnosing GNE myopathy can be challenging due to its phenotypic variability. This is the report of a 35-year-old man with GNE myopathy who presented with a low back pain for four years. A lumbar magnetic resonance imaging showed atrophy of lumbar paraspinal muscles. GNE myopathy was confirmed by genetic analysis. This case is unique and broaden the early clinical spectrum of GNE myopathy.