A case of GNE myopathy mimicking hereditary motor neuropathy

Eur J Neurol. 2020 Nov;27(11):2389-2391. doi: 10.1111/ene.14489.

Abstract

A 36-year-old woman who presented with upper limb distal weakness since the age of 15 years, with gradual progression to the lower limbs, is reported. Hereditary motor neuropathy was initially suspected based on distal weakness and hyporeflexia; however, whole exome sequencing accidentally revealed a compound heterozygous variant in the GNE gene, and ultrasound revealed increased homogeneous echogenicity in the involved muscles, which is characteristic of myopathic changes. Muscle magnetic resonance imaging revealed fatty infiltration in all limb muscles, sparing the triceps brachii, vastus lateralis and vastus medialis. Muscle biopsy revealed intracytoplasmic rimmed vacuole, supporting the diagnosis of GNE myopathy.

Keywords: GNE myopathy; muscle MRI; muscle ultrasound; next generation sequencing.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Distal Myopathies* / diagnosis
  • Distal Myopathies* / genetics
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Multienzyme Complexes
  • Muscle, Skeletal

Substances

  • Multienzyme Complexes