A patient with autoimmune limb-girdle myasthenia, and a brief review of this treatable condition

Clin Neurol Neurosurg. 2017 Jul:158:53-55. doi: 10.1016/j.clineuro.2017.04.016. Epub 2017 Apr 23.

Abstract

Limb-girdle myasthenia gravis (LGM) is an uncommon clinical picture related to an antibody-mediated blockage of the neuromuscular junction. We describe a 44-year old man who presented with a proximal limbs' weakness that resembled a myopathic disorder. The repetitive nerve stimulation at 3Hz showing a decremental response suggested myasthenia, that was confirmed by the presence of an increased titer of anti-acetylcholine receptor antibodies (AChRAbs), and of hyperplastic foci at thymus histology. Symptomatic treatment with pyridostigmine was not effective, whereas the patient improved adding Azathioprine. In conclusion, a myopathic-like clinical picture in an adult could be caused by LMG. Thymus pathology, or (rarely) increased AChRAbs could support the diagnosis of LGM.

Keywords: Acquired neuromuscular junction disorder; Myopathic-like presentation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Humans
  • Male
  • Myasthenia Gravis / diagnosis*
  • Myasthenia Gravis / drug therapy
  • Myasthenia Gravis / physiopathology
  • Myasthenic Syndromes, Congenital / diagnosis*
  • Myasthenic Syndromes, Congenital / drug therapy
  • Myasthenic Syndromes, Congenital / physiopathology

Supplementary concepts

  • Myasthenia, Limb-Girdle, Autoimmune