any of a group of congenital conditions characterized by reduced mobility of multiple joints due to contractures causing fixation of the joints in extension or flexion
As this pertains to CMT, arthrogryposis is different than the joint contractures that lead to “clawed” fingers and/or toes that are common in CMT.
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.