A 42-year-old Mexican man noticed painless and socially embarrassing facial twitching during times of stress since age 20 years. A few years later he noticed mild slurring of speech. His examination showed atrophy and fasciculations of the tongue, abnormal facial movements, and large breasts. Genetic testing was diagnostic. You can view a video of this patient online at PracticalNeurology.net. Search key: VideoCase

Challenging Questions

Mutation of which of the following genes is expected in this case?

  • Androgen receptors (AR)
  • Superoxide dismutase (SOD)
  • Valosin containing protein (VCR)
  • TAR DNA-binding protein 43 (TDP-43)
  • FUS (Fused in Sarcoma)

Find the answer and diagnosis in the next edition of Practical Neurology or online, posted along with the patient video.

Case selected from Dr. Shaibani's Video Atlas of Neuromuscular Diseases, in press, by Oxford University Press. Aziz Shaibani, MD,FACP,FAAN is Director of Nerve & Muscle Center of Texas and Clinical Associate Professor of Medicine at Baylor College of Medicine in Houston, TX. He is also Adjunct Professor of Neurology at Kansas University Medical Center in Kansas City, Kansas.