Natural history of ankle function during gait in youth with Charcot-Marie-Tooth disease types 1 and 2

Sylvia Õunpuu; Kristan Pierz; Wendy J Mack; Jennifer Rodriguez-MacClintic; Gyula Acsadi; Tishya A L Wren

doi:10.1016/j.gaitpost.2023.05.008

Natural history of ankle function during gait in youth with Charcot-Marie-Tooth disease types 1 and 2

Gait Posture. 2023 Jun:103:146-152. doi: 10.1016/j.gaitpost.2023.05.008. Epub 2023 May 5.

Authors

Sylvia Õunpuu¹, Kristan Pierz², Wendy J Mack³, Jennifer Rodriguez-MacClintic⁴, Gyula Acsadi⁵, Tishya A L Wren⁶

Affiliations

¹ Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA. Electronic address: sounpuu@connecticutchildrens.org.
² Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA; Division of Orthopedics, Connecticut Children's Medical Center, Hartford, CT, USA.
³ Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
⁴ Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA.
⁵ Division of Neurology, Connecticut Children's Medical Center, Farmington, CT, USA; Department of Pediatrics, Department of Neurology, University of Connecticut School of Medicine, Farmington, CT, USA.
⁶ Jackie and Gene Autry Orthopedic Center, Children's Hospital Los Angeles, Los Angeles, CA, USA; Departments of Orthopedic Surgery and Radiology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

PMID: 37167760
DOI: 10.1016/j.gaitpost.2023.05.008

Abstract

Background: Charcot-Marie-Tooth disease (CMT) can cause progressive muscle weakness and contracture, leading to gait abnormalities such as increased and delayed peak ankle dorsiflexion and reduced ankle power generation in terminal stance. Understanding strength loss on ankle function during gait is important for interpreting treatment outcomes and evaluating new therapies designed to improve gait.

Research question: Do ankle kinematics and kinetics vary as a function of age, disease progression with associated loss of muscle strength and CMT type in youth with CMT types 1 and 2?

Methods: A prospective convenience sample of 45 participants with CMT1 and 2, ages 7-22 years, underwent comprehensive gait analysis. Seventeen patients underwent repeat analyses totaling 67 tests. Generalized mixed effects linear modeling was used to compare CMT1 versus CMT2 and to examine the effects of age on ankle strength, range of motion, kinematics, and kinetics within each CMT type.

Results: Plantarflexor and dorsiflexor strength were less in CMT2 compared with CMT1 (p ≤ 0.05), while peak dorsiflexion in terminal stance (TST) was greater (p = 0.02). Peak plantarflexion moment and power generation were also less in CMT2 (p ≤ 0.02). In CMT1, peak dorsiflexion in TST increased with age through 13 years (p = 0.004); then plateaued in the normal range (p = 0.73). Peak ankle angle in mid-swing was closely related to the angle in TST (p < 0.001) following a similar pattern with age. In CMT2, no significant associations were observed between age, peak dorsiflexion in TST, and peak ankle angle in mid-swing (p ≥ 0.19). There were no consistent trends with age for individual patients with repeat tests.

Significance: The heterogeneity of joint level impairments and gait kinematics and kinetics point to the importance of having an in-depth understanding of gait at the individual patient level using comprehensive gait analysis including valid and reliable strength measures.

Keywords: Charcot-Marie-Tooth; Gait patterns; Kinematics; Kinetics; Natural History.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Ankle Joint
Ankle*
Biomechanical Phenomena
Charcot-Marie-Tooth Disease* / complications
Gait / physiology
Humans
Prospective Studies