Clinical exome sequencing confirmed GNE myopathy in a 27-year-old man presenting with asymmetric distal weakness, highlighting phenotypic variability that mimics peripheral neuropathy.
Case Report (n=1)
GNE myopathy can present asymmetrically and mimic peripheral neuropathy, highlighting the importance of genetic testing for accurate diagnosis.
Introduction: GNE myopathy is a rare autosomal recessive distal myopathy classically characterized by symmetrical distal muscle weakness with relative quadriceps sparing. However, phenotypic variability, including asymmetric onset, may obscure the diagnosis and mimic neuropathic disorders. Case Presentation: A 27-year-old Bangladeshi man presented with a 2-year history of progressive distal weakness, initially involving the left lower limb and later affecting the contralateral limb and distal upper extremities. Neurological examination revealed asymmetric distal weakness with bilateral foot drop and preserved sensory function. Serum creatine kinase was moderately elevated (892 U/L). Nerve conduction studies showed preserved sensory responses with reduced motor amplitudes, while electromyography demonstrated a distal-predominant myopathic pattern. Magnetic resonance imaging of the spine was unremarkable. Clinical exome sequencing identified a homozygous likely pathogenic variant in the GNE gene NM₀05476. 7: c. 484C>T (p. Arg162Cys), confirming the diagnosis. Conclusion: This case highlights an asymmetric presentation of GNE myopathy mimicking peripheral neuropathy. Recognition of such phenotypic variability and integration of clinical, electrophysiological, and genetic findings are crucial for accurate diagnosis and to avoid misclassification as a neuropathic disorder.
Kuri et al. (Sat,) conducted a case report in GNE myopathy (n=1). Clinical exome sequencing was evaluated. Clinical exome sequencing confirmed GNE myopathy in a 27-year-old man presenting with asymmetric distal weakness, highlighting phenotypic variability that mimics peripheral neuropathy.