PMID- 36179412
OWN - NLM
STAT- MEDLINE
DCOM- 20221129
LR  - 20230112
IS  - 1879-2219 (Electronic)
IS  - 0966-6362 (Linking)
VI  - 98
DP  - 2022 Oct
TI  - Stance and swing phase ankle phenotypes in youth with Charcot-Marie-Tooth type 1: 
      An evaluation using comprehensive gait analysis techniques.
PG  - 216-225
LID - S0966-6362(22)00580-X [pii]
LID - 10.1016/j.gaitpost.2022.09.077 [doi]
AB  - BACKGROUND: Charcot-Marie-Tooth disease (CMT) results in muscle weakness and 
      contracture leading to a wide variety of gait issues including atypical ankle 
      kinematics in both stance and swing. Knowledge of the stance and swing phase 
      kinematic patterns for CMT type 1 (CMT1), the most common CMT type, will improve 
      our understanding of expected gait outcomes and treatment needs to improve gait 
      function. RESEARCH QUESTION: What are the stance/swing phase ankle phenotypes in 
      CMT1? METHODS: A prospective convenience sample of 25 participants with CMT1, 
      ages 7-19 years, underwent comprehensive gait analysis following standard 
      procedures. Ankle phenotypes based on peak ankle dorsiflexion in terminal stance 
      and mid-swing were defined and compared using linear mixed models. RESULTS: 
      Patients with CMT1 presented with three stance phase ankle phenotypes: 21 limbs 
      (42 %) with reduced (mean 5 degrees , SD 2 degrees ), 19 limbs (38 %) with typical (mean 11 degrees , SD 
      1 degrees ) and 10 limbs (20 %) with excessive (mean 15 degrees , SD 2 degrees ) peak dorsiflexion in 
      terminal stance (p < 0.05). There were two swing phase phenotypes: 19 limbs (38 
      %) with typical (mean -1.7 degrees , SD 1.5 degrees ) and 31 limbs (62 %) with excessive (mean 
      -5.6 degrees , SD 1.4 degrees ) plantarflexion in mid-swing (p < 0.002). Eleven patients (44 %) 
      had ankles that were classified into different stance groups, and 9 patients (36 
      %) had ankles that were classified into different swing groups. The most common 
      combination of stance/swing ankle phenotypes was decreased dorsiflexion in 
      terminal stance with increased plantarflexion in mid-swing (16 sides, 32 %). 
      SIGNIFICANCE: This study shows that youth with CMT1 have multiple combinations of 
      combined ankle kinematics for stance and swing. The ankle phenotypes identified 
      in this study reflect contributions of both dorsi/plantarflexor weakness and 
      plantarflexor contracture, which require different treatment approaches. 
      Comprehensive gait analysis can distinguish between multiple ankle phenotypes to 
      assist in determining the most appropriate treatment to improve gait for 
      individual patients.
CI  - Copyright (c) 2022 Elsevier B.V. All rights reserved.
FAU - Ounpuu, Sylvia
AU  - Ounpuu S
AD  - Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, 
      CT, USA. Electronic address: sounpuu@connecticutchildrens.org.
FAU - Pierz, Kristan
AU  - Pierz K
AD  - Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, 
      CT, USA; Division of Orthopedics, Connecticut Children's Medical Center, 
      Hartford, CT, USA.
FAU - Garibay, Erin
AU  - Garibay E
AD  - Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, 
      CT, USA.
FAU - Acsadi, Gyula
AU  - Acsadi G
AD  - Division of Neurology, Connecticut Children's Medical Center, Farmington, CT, 
      USA.
FAU - Wren, Tishya A L
AU  - Wren TAL
AD  - Children's Orthopaedic Center, Children's Hospital Los Angeles, Los Angeles, CA, 
      USA.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20220921
PL  - England
TA  - Gait Posture
JT  - Gait & posture
JID - 9416830
SB  - IM
MH  - Adolescent
MH  - Humans
MH  - Ankle
MH  - *Charcot-Marie-Tooth Disease
MH  - Gait Analysis
MH  - *Gait Disorders, Neurologic
MH  - Prospective Studies
MH  - Ankle Joint/physiology
MH  - Gait/physiology
MH  - Biomechanical Phenomena
MH  - *Contracture
MH  - Phenotype
OTO - NOTNLM
OT  - Charcot-Marie-Tooth type 1
OT  - Children and youth
OT  - Gait patterns
OT  - Kinematics
OT  - Kinetics
COIS- Conflict of interest statement The authors have no conflict of interests to 
      disclose.
EDAT- 2022/10/01 06:00
MHDA- 2022/11/30 06:00
CRDT- 2022/09/30 18:15
PHST- 2022/03/28 00:00 [received]
PHST- 2022/09/09 00:00 [revised]
PHST- 2022/09/19 00:00 [accepted]
PHST- 2022/10/01 06:00 [pubmed]
PHST- 2022/11/30 06:00 [medline]
PHST- 2022/09/30 18:15 [entrez]
AID - S0966-6362(22)00580-X [pii]
AID - 10.1016/j.gaitpost.2022.09.077 [doi]
PST - ppublish
SO  - Gait Posture. 2022 Oct;98:216-225. doi: 10.1016/j.gaitpost.2022.09.077. Epub 2022 
      Sep 21.