Conducted over 20 years (2003–2023), this study involved 103 patients with Charcot-Marie-Tooth disease linked to the SH3TC2 gene (CMT 4C) who were monitored in 27 French university hospitals.
- The patients mainly presented with muscle weakness and loss of sensation in the distal limbs, foot deformities, scoliosis sometimes accompanied by breathing difficulties, hearing loss, etc.
- After the age of 50, mobility declined, with only 13% of patients walking independently, compared to 48% before that age, and 23% of patients using a wheelchair.
- The researchers identified 56 mutations in the SH3TC2 gene and showed that truncating variants lead to more severe damage.
