Charcot Marie Tooth Disease

NewsBot · Nov 11, 2024

The Use of the Richie Brace Dynamic Assist in a Patient with Charcot-Marie-Tooth Disease - A Case Report
Annali Olivelle, Trevor Prior and Shefali Gupta
Source

Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy involves a group of diseases that effects the peripheral nervous system causing a range of symptoms such as foot drop and foot deformities. Management of CMT disease is based around the use Ankle Foot Orthosis (AFO) however, little research has been based around pes planus deformity and specific AFO’s in adults as seen in our case. This case describes the use of the Riche Brace Dynamic Assist in a 36 year old female patient with CMT disease and pes planus deformity, assessing whether foot pain and functionality improved utilising the Foot Function Index (FFI) to assess pain and function after 3 months.
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NewsBot · Jan 7, 2025

Foot orthosis design for children with Charcot-Marie-Tooth and impact on gait
Mélissa Martel et al
Prosthet Orthot Int. 2025 Jan 7.

Background: Charcot-Marie-Tooth (CMT) is a progressive disease resulting in distal sensory deficit and muscular weakness. As the disease progresses, most children develop a cavovarus foot deformity. Foot orthoses (FO) are widely prescribed in CMT to support the foot and improve gait, but there is a lack of guidelines for their conception. The aim of this pilot study was to report the methodology used for the design of FO (FOmax) based on an evaluation of foot deformities and to assess its effects on gait in children with CMT.

Methods: This study included 11 children with CMT. Participants were provided with a classic pair of FO (FOclass) and a pair of FOmax. A full evaluation of foot deformities was performed, and a decision-making algorithm was used for the FOmax design. A gait analysis was performed with both FO after 3 months of wear.

Results: Wearing FOmax compared with FOclass increased walking speed, step length, and single stance time. Hip flexion/extension range of motion during stance also increased. The pressure-time integral decreased on the lateral midfoot with FOmax.

Conclusions: These results suggest that the FOmax, based on the algorithm, offers benefits for walking in children with CMT. The increased step length could be related to the increase of hip range of motion. The increase in walking speed and single support times could result from a better distribution of the plantar pressure that optimizes stability during walking. The present results need to be confirmed with a larger sample.
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NewsBot · Feb 16, 2025

Talar Morphology of Charcot-Marie-Tooth Patients With Cavovarus Feet
Andrew C Peterson et al
Foot Ankle Int. 2025 Feb 12:10711007241309915.

Background: Charcot-Marie-Tooth disease (CMT), a common inherited neurologic disorder, significantly impacts the morphology of foot bones, particularly the talus. The disease has been classified into types based on specific mutations, with the most common being CMT type 1 (CMT1; demyelinating) and CMT type 2 (CMT2; axonal). However, the specific osseous morphologic variations in CMT patients and their major genetic subgroups remain insufficiently understood, posing challenges in clinical management and surgical intervention.

Methods: This study analyzed talar morphology in individuals with CMT compared with a healthy control group, employing a single-bone statistical shape model and talar neck offset angle measurements. Participants included 18 CMT individuals (yielding 29 tali) and 43 healthy controls. For individuals with CMT, the average age at diagnosis was 36.5 ± 19.8 years, with a mean interval of 8.6 years between diagnosis and imaging. Talar morphology was evaluated using weightbearing computed tomography and subsequent morphologic and angular analysis.

Results: Differences were observed in talar morphology between CMT and healthy individuals. Notably, CMT1 and CMT2 tali exhibited a flatter talar dome and more medial talar head and neck compared with controls. Additionally, the CMT1 and CMT2 subgroups both had a more medially oriented talar neck based on the talar neck offset angle compared with the controls.

Conclusion: The findings illustrate significant morphologic variations in the talus of CMT patients, indicating the need for type-specific clinical approaches in treating CMT-related foot deformities. Understanding these talar variations is crucial for tailoring surgical techniques and orthotic designs, and developing effective rehabilitation protocols for individuals with CMT, potentially improving patient care and outcomes.
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NewsBot · Apr 4, 2025

Surgical correction of cavus foot may promote quality of life in patients with Charcot-Marie-Tooth disease: A retrospective study
Sumeng Chen et al
J Foot Ankle Surg. 2025 Jan 6:S1067-2516(25)00006-7

Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy leading to neuromuscular impairments, muscle atrophy, and functional limitations. Currently, no specific treatment exists to restore muscle strength in patients with CMT, and the disease can be severely disabling. Surgical correction of cavus foot has been suggested as a potential intervention to alleviate pain and improve gait in selected patients. This study aimed to evaluate the therapeutic effects and analyze the subsequent improvement in quality of life. A retrospective analysis was conducted on 45 patients (57 feet) who underwent surgical correction of cavus foot due to CMT. Annual follow-up assessments involved clinical symptoms, and patient-reported outcomes, including the Foot and Ankle Disability Index (FADI) and the Short-Form 12 (SF-12). Radiological evaluation was performed using the Meary angle, calcaneal pitch angle, talocalcaneal angle, talo-first metatarsal angle, and calcaneal-fifth metatarsal angle. After 2 years of follow-up, most radiographic and symptomatic outcomes improved significantly. Functional scales showed a significant increase (P < .001) in median FADI (23 vs. 40) and physical component score of the SF-12 (26 vs. 41). Therefore, surgical correction of cavus foot should be considered an effective intervention for patients with CMT, leading to sustained improvements in function and quality of life
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NewsBot · Apr 4, 2025

Outcomes of Triceps Surae Lengthening Surgery in Children With Charcot-Marie-Tooth Disease: A Multisite Investigation
Sylvia Õunpuu et al
J Pediatr Orthop. 2025 Apr 1;45(4):226-233. doi: 10.1097/BPO.0000000000002899.

Background: Orthopaedic surgical intervention in children with Charcot-Marie-Tooth (CMT) often includes triceps surae lengthening (TSL) and foot procedures to address instability and pain due to equinus and cavovarus deformities. These surgeries may unmask underlying weakness in this progressive disease causing increased calcaneal pitch and excessive dorsiflexion in terminal stance leading to crouch. The purpose of this study was to evaluate changes in ankle function during gait following TSL surgery in children with CMT.

Methods: Nineteen participants (11 male; age 12.8, SD 3.6 y) with CMT underwent gait analysis and clinical examination preoperatively and postoperatively to determine the outcomes of (1) triceps surae lengthening (TSL) and (2) plantar fascia release with bony foot surgery with or without TSL. TSL was performed in limbs with limited passive dorsiflexion range of motion (ROM) and decreased peak dorsiflexion in terminal stance, with gastrocnemius recession (GR) being preferred over tendo-Achilles lengthening (TAL) in cases with smaller dorsiflexion deficits. Passive dorsiflexion ROM, gait kinematics and kinetics, and foot posture index (FPI) were examined within and across surgical groups using linear mixed models.

Results: Dorsiflexion ROM, peak dorsiflexion in terminal stance and mid-swing, and peak nondimensional plantar flexor moment improved significantly after both GR (n=8 limbs) and TAL (n=11 limbs) ( P ≤0.02). After plantar fascia release with bony foot surgery (n=20 limbs), FPI changed significantly, indicating reduced cavovarus regardless of whether TSL was done ( P <0.05). Passive and dynamic dorsiflexion and ankle kinetics (moment and power) increased only when concomitant TSL was done ( P ≤0.04).

Conclusions: In patients with increased equinus due to reduced passive dorsiflexion range of motion, TSL is an effective surgery for reducing excessive equinus in terminal stance and mid-swing, decreasing toe-walking, and improving swing phase clearance. It can be combined with extensive foot surgery to correct cavovarus deformity without leading to excessive dorsiflexion in terminal stance and crouch gait. Clinical gait analysis is an important tool to help identify appropriate candidates for TSL based on the key indicator of peak dorsiflexion in terminal stance.
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NewsBot · Apr 24, 2025

Balance Confidence and Falls in Individuals With Charcot-Marie-Tooth Disease: A Cross-Sectional Observational Study
Kirsten M Anderson et al
Health Sci Rep. 2025 Apr 21;8(4):e70682.

Background and aims: Impaired balance and functional deficits are common in individuals with Charcot-Marie-Tooth disease (CMT). Many individuals with CMT use ankle foot orthoses (AFOs) to improve their balance and function. The aim of this study was to evaluate the fall frequency, perceived effect of AFOs on balance, and balance confidence of individuals with CMT who currently use AFOs.

Methods: Three hundred and six individuals participated in this study. Questions related to fall frequency, questions about the perceived effect of AFOs on balance, and the Activities Specific Balance Confidence Scale were distributed to individuals with CMT via e-mail using a Patient Contact Registry.

Results: Many participants reported falling in the preceding 24 h (14% of participants) or week (38% of participants). 78% of participants indicated their AFOs improve their balance. Participants reported decreased balance confidence across a range of activities, with highest confidence for level ground walking and standing tasks (> 60%), markedly decreased confidence when walking on stairs, slopes, or with external stimuli (40-55%), and poor confidence when walking on icy sidewalks, when bumped, or on unsteady surfaces (< 40%).

Conclusions: The data presented here provides insight into the frequency of falls and balance confidence for individuals with CMT who use AFOs. The Activities Specific Balance Confidence Scale can be used as an assessment tool to identify CMT patients with low balance confidence who are at risk for falls. This information can be used to target patient education and tailor treatment plans and interventions to address challenging activities. Further, this study will help to focus future studies investigating the effects of AFO design on balance confidence and falls.
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NewsBot · May 25, 2025

Osseous morphology differences in the foot and ankle associated with Charcot-Marie-Tooth disease
Melissa R Requist et al
JBMR Plus. 2025 Apr 9;9(6):ziaf058.

Charcot-Marie-Tooth (CMT) disease is a genetic, progressive peripheral nerve disease that commonly manifests in a cavovarus foot deformity. Previously, this foot deformity has been believed to be an alignment change in the foot, but recent research has shown that there are bone morphology differences in individuals with CMT. Differences in bone morphology have been identified in the calcaneus, talus, and medial cuneiform, but have not been consistently analyzed throughout the foot or studied in relation to different genetic subtypes of CMT. This study is a retrospective, cross-sectional analysis of bone morphology in CMT using weight-bearing computed tomography and statistical shape modeling. This analysis identified bone morphology differences between CMT and control groups throughout the hindfoot, midfoot, and forefoot. Bone morphology differences were also present between the 2 primary disease subtypes throughout the foot. Key morphologic findings include the altered shape of the subtalar articular surfaces on the talus, bending of the metatarsals, variation in navicular process morphology, and differences between subtypes in the talus, medial cuneiform, and medial metatarsals. There are several possible theoretical mechanisms for this osseous deformation, including bone remodeling in response to altered loading from alignment change or from decreased musculotendinous forces, but the patterns of morphological variation seen in these data cannot be fully explained by these mechanisms, suggesting that there may be an interaction between the neuronal disease and bone remodeling. Future work is necessary to characterize the progression of bony deformity throughout development and to correlate bone shape with function, gait, muscle morphology and strength to elucidate the mechanism of osseous morphology change in varying subtypes of CMT.
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NewsBot · Jun 13, 2025

Clinical Characteristics of Gait Disturbance in
Charcot-Marie-Tooth Disease and Future
Directions in Physical Therapy
Kazuto Kikuchi
Source

Charcot-Marie-Tooth disease (CMT) is a hereditary and progressive peripheral neuropathy affecting both
motor and sensory nerves. It is among the most common inherited neuropathies and is primarily classified
into demyelinating (type 1) and axonal (type 2) forms based on motor nerve conduction velocity, with over
100 genetic subtypes identified. Due to this genetic and clinical heterogeneity, the onset, severity, and
degree of motor and sensory impairments vary widely among individuals.
One of the hallmark manifestations of CMT is gait disturbance. As the disease progresses, individuals often
develop foot drop and foot deformities such as pes cavus and equinus, leading to a significant decline in gait
function. This results in limitations in activities of daily living, increased risk of falls, reduced social
participation, and decreased quality of life. Currently, no curative treatment exists for CMT. Management
focuses on symptomatic interventions, including orthotic support, surgical procedures, and physical
therapy. While physical therapy may improve muscle strength and physical function, the quality of evidence
remains moderate, and no standardized rehabilitation protocols have been firmly established. Tailored
physical therapy programs are considered essential for effective intervention.
Given these challenges, the need for quantitative and objective assessment of gait disturbances in CMT has
become increasingly important. Conventional clinical scales, such as the CMT Neuropathy Score, rely heavily
on subjective grading and offer limited value in detailed gait analysis. In contrast, recent advances in motion
analysis - such as three-dimensional gait analysis, ground reaction force measurement, and wearable
sensors - have provided more precise assessments. However, issues related to standardization and clinical
applicability remain unresolved. This review aims to summarize the neuropathology and clinical
characteristics of gait disturbances in CMT, discuss current gait assessment methodologies, explore physical
therapy strategies, and highlight the need for quantitative evaluation and future research directions in
rehabilitation for this patient population.
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NewsBot · Jun 13, 2025

Outcomes of Triceps Surae Lengthening Surgery in Children With Charcot-Marie-Tooth Disease: A Multisite Investigation
Õunpuu, Sylvia et al
Journal of Pediatric Orthopaedics 45(4) 226-233, April 2025. | DOI: 10.1097/BPO.0000000000002899

Background:

Orthopaedic surgical intervention in children with Charcot-Marie-Tooth (CMT) often includes triceps surae lengthening (TSL) and foot procedures to address instability and pain due to equinus and cavovarus deformities. These surgeries may unmask underlying weakness in this progressive disease causing increased calcaneal pitch and excessive dorsiflexion in terminal stance leading to crouch. The purpose of this study was to evaluate changes in ankle function during gait following TSL surgery in children with CMT.
Methods:

Nineteen participants (11 male; age 12.8, SD 3.6 y) with CMT underwent gait analysis and clinical examination preoperatively and postoperatively to determine the outcomes of (1) triceps surae lengthening (TSL) and (2) plantar fascia release with bony foot surgery with or without TSL. TSL was performed in limbs with limited passive dorsiflexion range of motion (ROM) and decreased peak dorsiflexion in terminal stance, with gastrocnemius recession (GR) being preferred over tendo-Achilles lengthening (TAL) in cases with smaller dorsiflexion deficits. Passive dorsiflexion ROM, gait kinematics and kinetics, and foot posture index (FPI) were examined within and across surgical groups using linear mixed models.
Results:

Dorsiflexion ROM, peak dorsiflexion in terminal stance and mid-swing, and peak nondimensional plantar flexor moment improved significantly after both GR (n=8 limbs) and TAL (n=11 limbs) (P≤0.02). After plantar fascia release with bony foot surgery (n=20 limbs), FPI changed significantly, indicating reduced cavovarus regardless of whether TSL was done (P<0.05). Passive and dynamic dorsiflexion and ankle kinetics (moment and power) increased only when concomitant TSL was done (P≤0.04).
Conclusions:

In patients with increased equinus due to reduced passive dorsiflexion range of motion, TSL is an effective surgery for reducing excessive equinus in terminal stance and mid-swing, decreasing toe-walking, and improving swing phase clearance. It can be combined with extensive foot surgery to correct cavovarus deformity without leading to excessive dorsiflexion in terminal stance and crouch gait. Clinical gait analysis is an important tool to help identify appropriate candidates for TSL based on the key indicator of peak dorsiflexion in terminal stance.
Click to expand...

NewsBot · Jul 11, 2025

Clinical Characteristics of Gait Disturbance in Charcot-Marie-Tooth Disease and Future Directions in Physical Therapy
Kazuto Kikuchi et al
Cureus. 2025 Jun 8;17(6):e85581.

Charcot-Marie-Tooth disease (CMT) is a hereditary and progressive peripheral neuropathy affecting both motor and sensory nerves. It is among the most common inherited neuropathies and is primarily classified into demyelinating (type 1) and axonal (type 2) forms based on motor nerve conduction velocity, with over 100 genetic subtypes identified. Due to this genetic and clinical heterogeneity, the onset, severity, and degree of motor and sensory impairments vary widely among individuals. One of the hallmark manifestations of CMT is gait disturbance. As the disease progresses, individuals often develop foot drop and foot deformities such as pes cavus and equinus, leading to a significant decline in gait function. This results in limitations in activities of daily living, increased risk of falls, reduced social participation, and decreased quality of life. Currently, no curative treatment exists for CMT. Management focuses on symptomatic interventions, including orthotic support, surgical procedures, and physical therapy. While physical therapy may improve muscle strength and physical function, the quality of evidence remains moderate, and no standardized rehabilitation protocols have been firmly established. Tailored physical therapy programs are considered essential for effective intervention. Given these challenges, the need for quantitative and objective assessment of gait disturbances in CMT has become increasingly important. Conventional clinical scales, such as the CMT Neuropathy Score, rely heavily on subjective grading and offer limited value in detailed gait analysis. In contrast, recent advances in motion analysis - such as three-dimensional gait analysis, ground reaction force measurement, and wearable sensors - have provided more precise assessments. However, issues related to standardization and clinical applicability remain unresolved. This review aims to summarize the neuropathology and clinical characteristics of gait disturbances in CMT, discuss current gait assessment methodologies, explore physical therapy strategies, and highlight the need for quantitative evaluation and future research directions in rehabilitation for this patient population.
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NewsBot · Jul 13, 2025

Osseous morphology differences in the foot and ankle associated with Charcot-Marie-Tooth disease Open Access
Melissa R Requist , Andrew C Peterson , Timothy C Beals , Bopha Chrea , Amy L Lenz
JBMR Plus, Volume 9, Issue 6, June 2025, ziaf058, https://doi.org/10.1093/jbmrpl/ziaf058

Charcot-Marie-Tooth (CMT) disease is a genetic, progressive peripheral nerve disease that commonly manifests in a cavovarus foot deformity. Previously, this foot deformity has been believed to be an alignment change in the foot, but recent research has shown that there are bone morphology differences in individuals with CMT. Differences in bone morphology have been identified in the calcaneus, talus, and medial cuneiform, but have not been consistently analyzed throughout the foot or studied in relation to different genetic subtypes of CMT. This study is a retrospective, cross-sectional analysis of bone morphology in CMT using weight-bearing computed tomography and statistical shape modeling. This analysis identified bone morphology differences between CMT and control groups throughout the hindfoot, midfoot, and forefoot. Bone morphology differences were also present between the 2 primary disease subtypes throughout the foot. Key morphologic findings include the altered shape of the subtalar articular surfaces on the talus, bending of the metatarsals, variation in navicular process morphology, and differences between subtypes in the talus, medial cuneiform, and medial metatarsals. There are several possible theoretical mechanisms for this osseous deformation, including bone remodeling in response to altered loading from alignment change or from decreased musculotendinous forces, but the patterns of morphological variation seen in these data cannot be fully explained by these mechanisms, suggesting that there may be an interaction between the neuronal disease and bone remodeling. Future work is necessary to characterize the progression of bony deformity throughout development and to correlate bone shape with function, gait, muscle morphology and strength to elucidate the mechanism of osseous morphology change in varying subtypes of CMT.
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NewsBot · Jul 30, 2025

Plantar Pressure Distribution in Charcot-Marie-Tooth Disease: A Systematic Review
Alberto Arceri et al
Sensors (Basel). 2025 Jul 10;25(14):4312.

Background: Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy that affects foot morphology and gait patterns, potentially leading to abnormal plantar pressure distribution. This systematic review synthesizes the existing literature examining plantar pressure characteristics in CMT patients. Methods: A comprehensive search was conducted across PubMed, Scopus, and Web of Science databases. Risk of bias was assessed using the Newcastle-Ottawa Scale. Results: Six studies comprising 146 patients were included. Four studies employed dynamic baropodometry, and two used in-shoe pressure sensors to evaluate the main plantar pressure parameters. The findings were consistent across different populations and devices, with a characteristic plantar-pressure profile of marked midfoot off-loading with peripheral overload at the forefoot and rearfoot, often accompanied by a lateralized center-of-pressure path and a prolonged pressure-time exposure. These alterations reflect both structural deformities and impaired neuromuscular control. Interventional studies demonstrated a load redistribution of pressure after corrective surgery, though residual lateral overload often persists. Conclusions: Plantar pressure mapping seems to be a valuable tool to identify high-pressure zones of the foot in order to personalize orthotic treatment planning, to objectively monitor disease progression, and to evaluate therapeutic efficacy. Further longitudinal studies with standardized protocols are needed to confirm these results.
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NewsBot · Sep 8, 2025

Surgical correction of foot deformities in Charcot-Marie-Tooth-disease: effects on personal goals and gait capacity
Heleen van der Wielen et al
Neuromuscular Disorders

Highlights

•
Foot and ankle surgery in people with CMT aims to improve functional mobility.
•
Understanding the patients’ personal goals is crucial for effective counselling.
•
Personal goals varied widely across participants.
•
Participants reported diverse goals, reflecting varied needs and expectations.
•
The most frequently mentioned goal was ‘walking on uneven ground with shoes’.
•
Surgery improves balance capacity, both objectively and subjectively.

ABSTRACT
Charcot Marie Tooth disease (CMT) is the most common group of inherited muscular disorders, resulting in foot deformities. Foot and ankle surgical procedures are frequently performed to improve function in persons with CMT. Understanding the patients’ personal goals is crucial for effective counselling. However, there is limited evidence regarding the extent to which personal goals are achieved through surgery, as well as the impact of surgery on balance and gait capacity. A prospective cohort study was conducted in 28 persons with CMT who underwent surgery. A wide range of personal goals was identified using the Canadian Occupational Performance Measure (COPM), with the most common goal being 'less problems during walking on uneven ground with shoes’. Wilcoxon signed-rank revealed a significant improvement in mean COPM scores after surgery for both performance (median difference: 3.0, range: -2 to 8; p<0.001) and satisfaction (3.5, -2 to 9; p≤0.001). Mini-BESTest (balance capacity) also showed significant improvement (17.0 to 20.3 points, p<0.001), whereas gait (gait velocity, gait width, and single support time) remained unchanged. This study highlights the variability in personal goals, with an overlap on individual and group levels. After surgery, balance capacity improved, both objectively and subjectively.
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NewsBot · Dec 2, 2025

Ultrasound Evaluation of Plantar Fascia in Individuals with Charcot–Marie–Tooth Disease: An Exploratory Study
Noemi Vallario et al
Source

Background: Charcot–Marie–Tooth disease (CMTd) is the most prevalent inherited peripheral neuropathy, often associated with foot deformities and gait and balance impairments. While the structural characteristics of the foot have been extensively investigated, limited data are available regarding the features of the plantar fascia in individuals with CMTd. Aim: To investigate the ultrasound (US) structural characteristics of the plantar fascia in subjects with CMTd and to explore their relations with disease severity and functional outcomes, encompassing lower extremity function, gait, and balance. Methods: A total of 26 individuals with confirmed CMTd underwent clinical and functional assessments. Bilateral ultrasound examination of the plantar fascia was performed to assess thickness, echogenicity, fibrillar pattern, and inflammatory signs (as assessed by US Power Doppler). Correlations between ultrasound findings, clinical data, and functional measures were also evaluated. Results: No pathological increase in plantar fascia thickness was observed, although a significant side-to-side difference was noted (p = 0.031) on ultrasound (US) imaging. No inflammatory signs were also detected. Significant associations were found between fascial alterations and age (p = 0.024), disease severity (CMTES, p = 0.014), and functional performance (10 MWT p = 0.017; SPPB p = 0.039). Conclusions: In individuals with CMT, plantar fascia abnormalities likely reflect chronic structural degeneration rather than acute inflammation. These changes are more evident with an increase in age, disease progression, and functional decline, suggesting the role of US imaging as a valuable tool for clinical and therapeutic strategies.
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NewsBot · Dec 13, 2025

Outcomes of Primary Fusion vs. Reconstruction of Pediatric Cavus Foot in Charcot-Marie-Tooth Disease: A Systematic Review
Waleed Kishta, Karim Gaber et al
Osteology 2025, 5(4), 36; https://doi.org/10.3390/osteology5040036

Background/Objectives: Charcot-Marie-Tooth (CMT) disease, the most common hereditary peripheral neuropathy, often causes cavovarus foot deformity in children. Surgical interventions to correct deformity or improve function can involve either primary fusion or reconstruction. However, the optimal surgical approach remains contested. This systematic review aims to present and evaluate existing data on both fusion and reconstruction surgical interventions in treating pediatric CMT cavus foot. Methods: A PRISMA-guided search of five electronic databases was conducted (from inception to 17 February 2025). Studies were eligible if they reported surgical outcomes for CMT pediatric patients (≤
18 years) with cavovarus foot treated by primary fusion or reconstruction. Titles, abstracts and full texts were screened by four independent reviewers, and data were extracted on patient demographics, procedures, follow-up, functional scores, radiographic correction and complications. Results: Fourteen studies met inclusion criteria, encompassing 169 patients and 276 feet, with a mean age at surgery of ~13.5 years. Nine studies evaluated joint-sparing reconstruction, three assessed primary fusion, and two combined both reconstruction and fusion. Both interventions yielded improved outcomes post-operatively. Reconstruction generally produced high patient satisfaction and near-normal radiographic parameters but carried recurrence or reoperation rates of 10–40%. Fusion provided durable correction of rigid deformities but was associated with nonunion, adjacent joint arthritis and higher revision rates. Conclusions: Joint-sparing reconstruction is an effective first-line approach for flexible cavovarus deformities in pediatric CMT patients, while fusion should be reserved for severe, rigid or recurrent cases. A patient-specific staged approach is recommended, and higher-quality comparative studies are needed to refine surgical decision-making.
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NewsBot · Dec 14, 2025

Ultrasound Evaluation of Plantar Fascia in Individuals with Charcot-Marie-Tooth Disease: An Exploratory Study
Noemi Vallario et al
Life (Basel). 2025 Nov 12;15(11):1741.

Background: Charcot-Marie-Tooth disease (CMTd) is the most prevalent inherited peripheral neuropathy, often associated with foot deformities and gait and balance impairments. While the structural characteristics of the foot have been extensively investigated, limited data are available regarding the features of the plantar fascia in individuals with CMTd.

Aim: To investigate the ultrasound (US) structural characteristics of the plantar fascia in subjects with CMTd and to explore their relations with disease severity and functional outcomes, encompassing lower extremity function, gait, and balance.

Methods: A total of 26 individuals with confirmed CMTd underwent clinical and functional assessments. Bilateral ultrasound examination of the plantar fascia was performed to assess thickness, echogenicity, fibrillar pattern, and inflammatory signs (as assessed by US Power Doppler). Correlations between ultrasound findings, clinical data, and functional measures were also evaluated.

Results: No pathological increase in plantar fascia thickness was observed, although a significant side-to-side difference was noted (p = 0.031) on ultrasound (US) imaging. No inflammatory signs were also detected. Significant associations were found between fascial alterations and age (p = 0.024), disease severity (CMTES, p = 0.014), and functional performance (10 MWT p = 0.017; SPPB p = 0.039).

Conclusions: In individuals with CMT, plantar fascia abnormalities likely reflect chronic structural degeneration rather than acute inflammation. These changes are more evident with an increase in age, disease progression, and functional decline, suggesting the role of US imaging as a valuable tool for clinical and therapeutic strategies.
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NewsBot · Jun 26, 2026

Asymmetric Cavovarus Deformity Presentation in Charcot-Marie-Tooth Disease
Melissa R Requist et al
Foot Ankle Orthop. 2026 Jun 17;11(2):24730114261454986.

Background: The characteristic cavovarus foot deformity associated with Charcot-Marie-Tooth disease (CMT) is highly variable between individuals. Although substantial progress has been made in characterizing foot morphology in CMT, previous investigations have not addressed limb symmetry within individuals. This is relevant to functional assessment scales, which typically measure only the dominant limb, and has implications for surgical treatment planning. This study aimed to use weight-bearing computed tomography (WBCT) to examine similarity in deformity between limbs in individuals with CMT.

Methods: Bilateral WBCT images of 31 individuals with CMT were analyzed through automatic calculation of 9 radiographic measurements and generation of a statistical shape model (SSM). Morphologic variation in the SSM was described with principal components analysis (PCA). Absolute differences in radiographic measures and PCA scores between paired limbs were analyzed with appropriate statistical tests with Bonferroni correction.

Results: Significant absolute differences between paired limbs were identified in all radiographic measures, ranging from a median difference of 1.2° in calcaneal inclination angle to 5.8° in the axial plane Meary angle. Similarly, significant absolute differences between limbs were identified on all 3 analyzed modes of variation in the SSM, with the greatest difference seen in in hindfoot varus rotation. Significant laterality-dependent morphologic differences could not be identified.

Conclusion: Both radiographic measures and SSM demonstrated statistically significant absolute differences between limbs. In both methods, greater magnitude of difference was seen between limbs in hindfoot varus rotation than arch height.

Clinical relevance: These data provide quantitative characterization of the clinically suspected limb-to-limb asymmetry in CMT-related cavovarus deformity. Alignment differences between limbs support the use of limb-specific assessment in functional outcome measures and surgical algorithms. This supports the need for further research quantifying clinically significant differences in foot morphology and consideration of limb asymmetry in research and patient education for CMT.
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NewsBot · Aug 8, 2026

Charcot-Marie-Tooth disease in children
Ezgi Saylam et al
Ann Child Neurol Soc. 2024 Nov 11;2(4):256-268.

Charcot-Marie-Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals. Despite this, CMT comprises only 118 of 853 inherited neuropathy entries in the Online Mendelian Inheritance in Man (OMIM) database. This comprehensive review offers a thorough examination of CMT's clinical features, subtypes, genetic underpinnings, and pathomechanisms in pediatric cases. CMT typically manifests as progressively worsening muscle weakness and atrophy, primarily affecting the distal extremities. Patients may also experience foot and ankle deformities, hand atrophy, and other systemic issues. To accurately diagnose CMT, a detailed family history, comprehensive clinical evaluation, nerve conduction studies, and relevant genetic testing are essential. Importantly, establishing a differential diagnosis is crucial during evaluation to rule out other conditions with similar presentations. This review aims to provide clinicians with a valuable resource for diagnosing and managing CMT, emphasizing the need for a streamlined and standardized approach considering advancements in genetic testing and the identification of various subtypes.
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NewsBot · Aug 14, 2026

Age-Related Differences in Radiologic and Clinical Presentation of Charcot-Marie-Tooth Foot Deformity: Insights from WBCT and PROMIS Analysis
Jae Hwang Song et al
Foot and Ankle Surgery

Background
This study compared pediatric and adult Charcot-Marie-Tooth (CMT) foot deformities using radiologic and clinical data and evaluated the relationship between age and deformity severity.
Methods
Sixty-eight CMT patients were retrospectively analyzed and divided into pediatric (< 18 years, n=19) and adult (n=49) groups. 3D measurements from foot weightbearing CT scans were obtained. Clinical outcomes were assessed using PROMIS scores.
Results
Adults showed significantly higher Meary’s angle (10.9° vs. -5.9°, P=.002) and talonavicular angles (2.4° vs. -11.7°, P<.001) than pediatrics. Pediatric patients demonstrated higher Saltzman view angles (40.8° vs. 21.4°, P=.003). Adults showed higher PROMIS Pain Interference scores (58.8 vs. 52.6, P=.031). Age showed a positive correlation with sagittal Meary’s angle, talonavicular angle, and Pain Interference score, and a negative correlation with the Saltzman view angle.
Conclusion
The adult patients exhibited a higher arch and more pain interference, whereas the pediatric patients showed greater midfoot adduction and hindfoot varus.
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NewsBot · Aug 24, 2026

Guideline-based provision of ankle-foot orthoses improves walking ability in individuals with Charcot-Marie-Tooth disease
M M Welsink-Karssies et al
Disabil Rehabil. 2026 Aug 24:1-14.

Purpose: Ankle-foot orthoses (AFOs) are commonly prescribed to individuals with Charcot-Marie-Tooth (CMT) disease, despite limited evidence for their effectiveness in improving walking ability. This study evaluated the effectiveness of AFOs provided according to the Dutch orthotic guideline in individuals with CMT.

Methods: Individuals with CMT receiving their first guideline-based AFO between 2012 and 2024 were included. Baseline measurements (with shoes or standard-care AFOs) were compared with follow-up measurements after three months of guideline-based AFO use. Outcomes included walking speed, energy cost of walking, gait biomechanics, and perceived functioning. Data were analyzed for the whole group and for subgroups with and without baseline AFO use.

Results: Forty-eight participants were included; follow-up data were available for 24 (13 without AFO at baseline). Guideline-based AFOs significantly improved walking speed, energy cost of walking, gait biomechanics, and 6/7 perceived walking ability items (all p ≤ 0.033). Participants without AFO at baseline showed similar improvements (all p ≤ 0.040). Participants with AFO at baseline showed significant improvements on walking speed, ankle biomechanics, and 3/7 perceived walking ability items (all p ≤ 0.046).

Conclusions: Guideline-based AFO provision improved objective and perceived walking ability in individuals with CMT, including those already using a standard-care AFO. These results support further implementation of the guideline.
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NewsBot · Aug 28, 2026

Charcot-Marie-Tooth Cavovarus Foot: Current Concepts and Emerging Strategies for Deformity Correction
Sung Jun Moon et al
J Clin Med. 2026 Aug 21;15(16):6474.

Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited peripheral neuropathy, characterized by progressive motor and sensory dysfunction resulting from a wide spectrum of genetic abnormalities. More than 70% of affected individuals develop cavovarus foot deformities, which impair gait mechanics, reduce functional mobility, and frequently necessitate orthotic support. The diagnosis of CMT-related foot deformity requires a comprehensive clinical evaluation, with particular emphasis on identifying muscle imbalance and assessing the function of individual musculotendinous units contributing to the deformity. Conservative management, including customized footwear and orthotic bracing, remains the first-line treatment for flexible and less severe deformities. However, surgical intervention should be considered in patients with progressive deformity, persistent symptoms, or failure of nonoperative treatment. Patients requiring surgical correction commonly present with a combination of cavovarus malalignment, muscle imbalance, soft-tissue contracture, and secondary osseous deformities. Current surgical management favors joint-sparing surgery through a combination of soft-tissue procedures, corrective osteotomies, and tendon transfer whenever feasible. Arthrodesis is generally reserved for rigid deformities that cannot be adequately corrected with joint-sparing surgery for patients with painful degenerative arthritis. When appropriately indicated, surgical reconstruction can substantially improve functional outcomes, reduce dependence on bracing, and enhance overall quality of life. This narrative review summarizes current concepts in the diagnosis and management of CMT-related cavovarus foot deformity, with particular emphasis on individualized deformity assessment and contemporary joint-sparing reconstruction.
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NewsBot · Aug 31, 2026

Age-related differences in radiologic and clinical presentation of Charcot-Marie-Tooth foot deformity: Insights from WBCT and PROMIS analysis
Jae Hwang Song
Foot and Ankle Surgery 12 August 2026

Background
This study compared pediatric and adult Charcot-Marie-Tooth (CMT) foot deformities using radiologic and clinical data and evaluated the relationship between age and deformity severity.
Methods
Sixty-eight CMT patients were retrospectively analyzed and divided into pediatric (< 18 years, n = 19) and adult (n = 49) groups. 3D measurements from foot weightbearing CT scans were obtained. Clinical outcomes were assessed using PROMIS scores.
Results
Adults showed significantly higher Meary’s angle (10.9° vs. −5.9°, P = .002) and talonavicular angles (2.4° vs. −11.7°, P < .001) than pediatrics. Pediatric patients demonstrated higher Saltzman view angles (40.8° vs. 21.4°, P = .003). Adults showed higher PROMIS Pain Interference scores (58.8 vs. 52.6, P = .031). Age showed a positive correlation with sagittal Meary’s angle, talonavicular angle, and Pain Interference score, and a negative correlation with the Saltzman view angle.
Conclusion
The adult patients exhibited a higher arch and more pain interference, whereas the pediatric patients showed greater midfoot adduction and hindfoot varus.
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NewsBot · Sep 5, 2026 at 2:46 AM

The role of soft tissue surgery in pes cavovarus feet and Charcot Marie Tooth diseaseDie Rolle der soft tissue chirurgie bei pes cavovarus in Charcot-Marie-Tooth disease
Christian Cornelis Marinus Anne Donken
Source

This article presents an overview on pathophysiology, treatment and classification for pes cavovarus feet in Charcot Marie Tooth disease, with particular attention on the role of soft tissue surgery. Various soft-tissue procedures and its limitations are discussed for different cavovarus deformities in pes cavovarus feet with Charcot Marie Tooth disease.
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NewsBot · Sep 7, 2026 at 7:25 AM

Clinical determination of forefoot morphotypes in flexible Charcot-Marie-Tooth cavovarus feet - A novel system of clinical examination
Karan Malhotra et al
Source

Background
Cavovarus foot morphology varies significantly, necessitating bespoke treatment. Four distinct forefoot morphotypes have been described which may aid surgical planning. This study assesses whether clinical examination can accurately assess forefoot morphotype.
Methods
Retrospective, single-centre study including 60 CMT cavovarus feet. Feet were categorised clinically into four previously described morphotypes by two clinicians. Clinical findings were compared to software-based categorisation of weightbearing CT images (30 feet).
Results
Inter-rater reliability was 0.943 for clinical versus software; 0.938 between clinicians. 60% were Type 1, 21.7% Type 2, 10% Type 3 and 8.3% Type 0. Three distinct subtypes of Type 3 were noted: Balanced (pure adduction), Plantarflexed (additional plantarflexion of first ray) and Pronated (additional pronation of whole forefoot). Eleven Type 1/2 feet had an Adduction subtype.
Conclusion
Cavovarus foot morphology can be reliably identified on clinical examination. This may aid decision making for surgeons without access to weightbearing CT or specialised software.
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Charcot Marie Tooth Disease

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Charcot Marie Tooth Disease

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Gait differences between Charcot–Marie–Tooth disease type 1A (CMT1A) and diabetic neuropathy (DNP)

Flat foot in Charcot-Marie-Tooth Disease

Can Charcot Marie Tooth come on virtually overnight?

Charcot Marie-Tooth management

Top 100 cited Articles in Charcot Neuroarthropathy

Patients Knowledge of Charcots

charcot foot

Share This Page

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