CMT2Y

CMT2Y is caused by autosomal dominant mutations in the VCP gene. Other mutations in this gene cause several other disorders. However, the autosomal dominant mutations in the VCP gene that are associated with causing CMT2Y are specific to CMT2Y. The mutations in the gene that cause the other conditions are separate and different from the ones that cause CMT2Y.

CMT2Y is characterized by a highly varying degree of progression and severity. Symptom onset is usually in early childhood and is slowly progressive.

CMTers who have CMT2Y usually will experience lower leg weakness, atrophy, and sensory loss that leads to foot deformities and difficulties with walking/running early on. The severity of this can be dismissively mild though. CMTers who have CMT2Y might also experience dysarthria (difficulty with speech due to muscle weakness), dyspnea (labored breathing together with shortness of breath), and mood/behavioral abnormalities. Late onset of balance impairment and hand weakness can also be common in CMT2Y.