Munchausen syndrome by genetics: Next-generation challenges for clinicians

Sixty-five years ago, Richard Asher1 was the first to describe, in The Lancet, a pattern of self-harm characterized by fabricated histories, symptoms, and signs of illness. Asher named this condition Munchausen syndrome after the famous Baron Münchhausen, a literary character loosely based on the German nobleman Hieronymus Karl Friedrich Freiherr von Münchhausen, a model of a shameless but cunning liar toying with reality and exaggeration. Munchausen syndrome frequently involves movement disorders2 difficult to distinguish from organic disease. Here, we describe the novel constellation of a factitious disorder presenting as a supposedly genetically confirmed hereditary disease manifesting with abnormal movements. As genetic testing plays a rapidly increasing role in diagnostics in all areas of medicine including rare and unusual conditions3,4 and is typically considered gold standard without further scrutiny, it is important to alert physicians to the possibility of manipulation of genetic testing reports by the patient in the context of somatoform disorders.