A digenic disease is caused by pathogenic variants in two genes acting together, where a variant in either gene alone would not produce the disease. It sits between single-gene (monogenic) and complex, many-gene disease. Digenic inheritance is uncommon in Charcot-Marie-Tooth disease (CMT), where nearly every subtype is monogenic, but it is described in rare cases where variants in two CMT genes combine.
A Name That Does Too Much Work
Jean-Martin Charcot's name appears throughout medicine, but nowhere does it create more confusion than in the foot. Learn why the CMT foot and Charcot neuroarthropathy, also known as Charcot foot, share a name yet differ in how they develop, appear, and are managed.
