A genetic trait is considered dominant if it is expressed in a person who has only one copy of a particular gene mutation. (In genetic terms, a dominant trait is one that is phenotypically expressed in heterozygotes).
Regarding CMT, a dominant CMT-causing mutation is a mutation that requires only one copy to cause CMT. A dominant mutation is heterozygous.
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.
Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.
CMT genetic testing often fails to identify the cause of the disease, even when comprehensive panels are used. Here, we discuss why this happens, what genetic tests can and cannot do, and why a negative result still matters.
