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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Charcot Marie Tooth Disease

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Charcot Marie Tooth Disease

NewsBot The Admin that posts the news.

NewsBot The Admin that posts the news.

NewsBot The Admin that posts the news.

NewsBot The Admin that posts the news.

NewsBot The Admin that posts the news.

NewsBot The Admin that posts the news.

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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