Charcot Marie Tooth foot

Charcot-Marie-Tooth (CMT) disease is the most commonly inherited neuropathy. CMT disease is a motor-sensory neuropathy with multiple genotypes. By comparison, the phenotypic expression is more uniform, with two main presentations. Most patients who need surgical care have progressive cavovarus foot deformity, with muscle imbalance causing a nonplantigrade foot, soft-tissue contractures, and abnormal bone morphology. Surgical treatment can be life-changing for these patients, allowing them to walk potentially brace free with more endurance and less pain...

BACKGROUND: CMT is a clinically and genetically heterogenous disease with varying degrees of progression. Different foot deformities, gait and movement patterns are observed. In order to achieve an improved, targeted treatment strategy, the participants are divided into characteristic groups using a mathematical cluster analysis based on the data from the three-dimensional foot kinematics during walking. METHODS: Outpatients from age 5-64 years (N = 33 participants, 62 feet) with a proven CMT type 1 (N = 16, 31 feet) or CMT without any further type assignment (N = 17, 31 feet) were retrospectively analyzed...

INTRODUCTION: Charcot-Marie-Tooth (CMT) is a group of inherited peripheral neuropathies characterized by wide genotypic and phenotypic variability. The onset is typically in childhood, and the most frequent clinical manifestations are predominantly distal muscle weakness, hypoesthesia, foot deformity (pes cavus) and areflexia. In the long term, complications such as muscle-tendon retractions, extremity deformities, muscle atrophy and pain may occur. Among CMT1, demyelinating and autosomal dominant forms, CMT1G is determined by mutations in the PMP2 myelin protein...

BACKGROUND: Hereditary motor and sensory neuropathies (HMSN), also known as Charcot-Marie-Tooth disease, are characterized by affected peripheral nerves. This often results in foot deformities that can be classified into four categories: (1) plantar flexed first metatarsal, neutral hindfoot, (2) plantar flexed first metatarsal, correctable hindfoot varus, (3) plantar flexed first metatarsal, uncorrectable hindfoot varus, and (4) hindfoot valgus. To improve management and for the evaluation of surgical interventions, a quantitative evaluation of foot function is required...

BACKGROUND AND PURPOSE: Data are reported from the Italian CMT Registry. METHODS: The Italian CMT Registry is a dual registry where the patient registers and chooses a reference center where the attending clinician collects a minimal dataset of information and administers the Charcot-Marie-Tooth (CMT) Examination/Neuropathy Score. Entered data are encrypted. RESULTS: Overall, 1012 patients had registered (535 females) and 711 had received a genetic diagnosis...

PURPOSE: Orthotic devices may be prescribed for the management of foot and ankle deformities caused by Charcot-Marie-Tooth disease (CMT). However, the actual use of these devices is variable. No studies have evaluated the impact of prescription, delivery and follow-up of orthotic devices on their use.We aimed to describe the relationship between the pathways followed by individuals with CMT and orthotic device use. MATERIALS AND METHODS: Exploratory, cross-sectional, 35-item survey of orthotic device management...

BACKGROUND AND AIMS: Effective treatments for Charcot-Marie-Tooth (CMT) disease lack. Current treatments, such as ankle and foot surgery/orthoses, analgesics, and physiotherapy, focus on relieving the symptoms. Few randomized controlled trials (RCTs) investigated the effectiveness of exercise in patients with CMT, and a systematic review summarizing the effects of such treatments is outdated. This study aims to systematically review the effects of exercise on muscle strength, function, aerobic capacity, and quality of life in CMT...

Charcot-Marie-Tooth disease (CMT) is a group of inherited peripheral nerve disorders characterized by progressive muscle weakness and atrophy, sensory loss, foot deformities and steppage gait. Missense mutations in the gene encoding the small heat shock protein HSPB8 (HSP22) have been associated with hereditary neuropathies, including CMT. HSPB8 is a member of the small heat shock protein family sharing a highly conserved α-crystallin domain that is critical to its chaperone activity. In this study, we modeled HSPB8 mutant-induced neuropathies in Drosophila ...

BACKGROUND AND PURPOSE: Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot-Marie-Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN) resulting in lower limb (LL) weakness and muscular atrophy. In this study, phenotype and genotype landscapes of SORD-related peripheral neuropathies were described in a French and Swiss cohort. Serum sorbitol dosages were used to classify SORD variants...

BACKGROUND: This study assesses the coronal-plane deformities in cavovarus feet secondary to Charcot-Marie-Tooth disease (CMT) using Weightbearing-CT (WBCT) and semi-automated 3D-segmentation software. METHODS: WBCTs from 30 CMT-cavovarus feet were matched to 30 controls and analysed using semi-automatic 3D-segmentation (Bonelogic, DISIOR). The software used automated cross-section sampling with subsequent straight-line representation of weighted centre points to calculate 3D axes of bones in the hindfoot, midfoot and forefoot...

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral polyneuropathy, resulting in length-dependent motor and sensory deficiencies. Asymmetric nerve involvement in the lower extremities creates a muscle imbalance, which manifests as a characteristic cavovarus deformity of the foot and ankle. This deformity is widely considered to be the most debilitating symptom of the disease, causing the patient to feel unstable and limiting mobility. Foot and ankle imaging in patients with CMT is critical for evaluation and treatment, as there is a wide range of phenotypic variation...

Segmental foot and ankle models are often used as part of instrumented gait analysis when planning interventions for complex congenital foot conditions. More than 40 models have been used for clinical analysis, and it is important to understand the technical differences among models. These models have been used to improve clinical planning of pediatric foot conditions including clubfoot, planovalgus, and equinovarus. They have also been used to identify clinically relevant subgroups among pediatric populations, quantify postoperative outcomes, and explain variability in healthy populations...

Surgery for severe equine cavo-varus is complex and must be individualized. The interindividual phenotypic variability demands a personalized planning of each foot to be operated. The study's primary goal was to evaluate the function and satisfaction of a series of patients with severe equinus cavo-varus deformity who underwent a triplanar tarsectomy and transposition of the posterior tibial tendon in a single stage surgery after a patient specific 3D biomodel planning. A series of 12 feet (5 patients bilaterally) operated with this technique was analyzed...

Charcot-Marie-Tooth (CMT) is a hereditary motor and sensory neuropathy. The disease consists of a spectrum of inherited disorders caused by pathogenic variants in genes, which lead to multiple different clinical phenotypes. It is one of the most common inherited neuromuscular disorders. This disease most commonly presents with symptoms of distal weakness and muscular atrophy, which then lead to foot drop and pés cavus. In this article, we describe the case of a patient who developed muscle atrophy and distal weakness over the course of his 52 years of life, leading to gait impairment and foot deformities...

OBJECTIVE: Based on the clinical data of patients with foot and ankle deformities in the QIN Sihe Orthopaedic Surgery Database, to analyze the characteristics and treatment strategies of foot and ankle deformities, and provide a basis for clinical decision-making. METHODS: A total of 22 062 patients with foot and ankle deformities who received orthopedic surgery between May 25, 1978 and December 31, 2020 were searched in the QIN Sihe Orthopedic Surgery Database...

BACKGROUND: Collagen VI-related myopathies with pathologic COL6A1, COL6A2, and COL6A3 variants manifest as a phenotypic continuum of rare disorders, including Bethlem myopathy (BM), characterized by early onset muscle weakness, proximal joint contractures, and distal joint laxity. Herein we discuss the concomitant orthopedic manifestations of BM, potential management strategies, and patient outcomes. METHODS: An IRB-approved retrospective cohort study (n=23) from 2 pediatric institutions with a confirmed diagnosis of BM...

BACKGROUND: U-osteotomy with Taylor Spatial Frame correction is a rarely reported treatment method particularly well-suited for severe rigid equinus deformity in adults. The purpose of this study was to evaluate the effectiveness and efficacy of deformity correction and clinical outcome using this technique. METHODS: We present a retrospective review of 30 feet in 26 patients who received U-osteotomy with Taylor Spatial Frame. Radiologic outcomes were measured using the anterior tibiotalar angle (TTA) with conventional weightbearing radiographs...

BACKGROUND AND PURPOSE: Fatigue, a disabling symptom in many neuromuscular disorders, has been reported also in Charcot-Marie-Tooth disease (CMT). The presence of fatigue and its correlations in CMT was investigated. METHODS: The Modified Fatigue Impact Scale (MFIS) was administered to CMT patients from the Italian Registry and a control group. An MFIS score >38 indicated abnormal fatigue. The correlation with disease severity and clinical characteristics, the Hospital Anxiety and Depression Scale and Epworth Sleepiness Scale scores, and drug use was analysed...

Introduction: Charcot-Marie-Tooth disease (CMT) is a slow and progressive peripheral motor sensory neuropathy frequently associated with the cavo-varus foot deformity. We conducted a scoping review on the clinical scales used to assess foot deviations in CMT patients and analyzed their metric properties. Evidence Acquisition: A first search was conducted to retrieve all scales used to assess foot characteristics in CMT patients from the Medline, Web of Science, Google Scholar, Cochrane, and PEDro databases...

OBJECTIVE: Cavus foot is a deformity defined by the abnormal elevation of the medial arch of the foot and is a common but challenging occurrence for foot and ankle surgeons. In this review, we mainly aim to provide a comprehensive evaluation of the treatment options available for cavus foot correction based on the current research and our experience and to highlight new technologies and future research directions. METHODS: Searches on the PubMed and Scopus databases were conducted using the search terms cavus foot, CMT (Charcot-Marie-Tooth), tendon-transfer, osteotomy, and adult...