A comprehensive evaluation of the variation in ankle function during gait in children and youth with Charcot-Marie-Tooth disease

- Ankle kinematics and kinetics and clinical exam parameters vary in adolescents with CMT.
- Three ankle kinematic patterns based on peak dorsiflexion in terminal stance.
- Patterns included: increased, within typical range and reduced peak dorsiflexion.
- Clinical findings: most common is plantar flexor weakness, cavus, and possible plantar flexor contracture.
- Understanding of kinematics and impairments needed for treatment decisions.

A better understanding of gait dysfunction for children and youth with Charcot-Marie-Tooth (CMT) will assist in developing appropriate treatments and understanding prognosis for ambulation. The purpose of this retrospective study was to document the typical gait patterns in children and youth (12 ± 4 years) with CMT using motion analysis and relate these findings back to the clinical assessment at the ankle. All patients underwent a motion analysis as a component of treatment decision-making.Lower extremity kinematics and kinetics were evaluated in comparison to a typically developing age-matched reference control group collected in the same gait laboratory. Three patient subgroups were defined based on peak ankle dorsiflexion in terminal stance: greater than typical (n = 23), within typical range (n = 30) and less than typical (n = 13). The three subgroups showed statistically significant differences (p < 0.004) in degree of impairment for ankle plantar flexor and dorsiflexor weakness and ankle plantar flexor contracture. Patients with excessive dorsiflexion in terminal stance had the greatest ankle plantar flexor weakness (median 2) and the greatest dorsiflexor weakness (median 4). Patients with less than typical dorsiflexion in terminal stance were the only patients with a plantar flexor contracture (−2 ± 9°). Delayed peak dorsiflexion in stance was the most common kinematic finding and consistent with ankle plantar flexor weakness. All patients showed significantly less (p < 0.001) peak ankle moments and power generation in terminal stance than the typically developing controls. We concluded that children and youth with CMT present differently in terms of impairment and associated gait issues which therefore require patient specific treatment strategies.