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.
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.
CMT-SORD is a newly discovered CMT subtype driven by toxic sorbitol accumulation. This article explains how "SORD" works, why this subtype is different, and how it led to the fastest-moving therapeutic program in CMT history.