Genetic Cause of CMT2 Discovered?

A recent study published in the Journal of Clinical Investigation looked at two unrelated families with CMT2 and identified "autosomal dominant mutations of the canonical Notch ligand Jagged1 (or JAG1)" in them — a likely cause for their CMT that was also backed up by experiments in mice. The CMT News site covers this in… Continue reading Genetic Cause of CMT2 Discovered?

Late Diagnoses

In the past the norm was we didn't get a diagnosis, so family and friends just shrugged it off and called us "clumsy" or pretended nothing was wrong. I hope this is an outlier experience, but I was pushed into sports, like track and cross country, in high school when my feet and ankles became obviously atrophied.