Charcot foot

BACKGROUND: It is unclear whether prolonged periods of training can be well tolerated. In Charcot-Marie Tooth disease (CMT). We report the effects of an 8-month, adapted motor activity (AMA) program in a 16-years-old CMT1A male patient. The program included strength, mobility, and balance training (two sessions per week, 1 h per session). MEASURES: Walking ability and walking velocity (Six-Minute Walking Test-6MWT, Ten Meters Walking Test-10 mW T), balance (Y-Balance Test-YBT, Berg Balance Scale-BBS), functional mobility (Short Physical Performance Battery-Short physical performance battery), fatigue (Checklist Individual strength questionnaire - CIS20R), health and quality of life (Short Form Health Survey 36 questionnaire-SF-36) were evaluated in three moments: before (T0), after 5 (T1) and 8 (T2) months of adapted motor activity...

People with Charcot-Marie-Tooth (CMT) disease often undergo foot and ankle surgery, as foot deformities are common and cause a degree of functional limitations impairing quality of life. Surgical approaches are variable and there are no evidence-based guidelines. A multidisciplinary approach involving neurology, physical therapy and orthopaedic surgery is ideal to provide guidance on when to refer for surgical opinion and when to intervene. This review outlines the range of foot deformities associated with CMT, their clinical assessment, and their conservative and surgical and postoperative management...

BACKGROUND: The cavovarus foot is a complex 3-dimensional deformity. Although a multitude of techniques are described for its surgical management, few of these are evidence based or guided by classification systems. Surgical management involves realignment of the hindfoot and soft tissue balancing, followed by forefoot balancing. Our aim was to analyze the pattern of residual forefoot deformities once the hindfoot is corrected, to guide forefoot correction. METHODS: We included 20 cavovarus feet from 16 adult patients with Charcot-Marie-Tooth who underwent weightbearing CT (mean age 43...

The term 'diabetic foot disease' (DFD) often signifies the presence of foot ulceration and infection, but one must also be wary of the rarer occurrence of Charcot foot disease. The worldwide prevalence of DFD is 6.3% (95%CI: 5.4-7.3%). Foot complications present a major challenge to both patients and healthcare systems, with increased rates of hospitalisation and an almost trebled 5-year mortality. The Charcot foot often occurs in patients with long-standing diabetes, presenting as an inflamed or swollen foot or ankle, following unrecognised minor trauma...

Quantitative muscle fat fraction (FF) responsiveness is lower in younger Charcot-Marie-Tooth disease type 1A (CMT1A) patients with lower baseline calf-level FF. We investigated the practicality, validity, and responsiveness of foot-level FF in this cohort involving 22 CMT1A patients and 14 controls. The mean baseline foot-level FF was 25.9 ± 20.3% in CMT1A patients, and the 365-day FF (n = 15) increased by 2.0 ± 2.4% (p < 0.001 vs controls)...

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OBJECTIVE: To analyze the clinical data of patients with end-stage ankle and hindfoot arthropathy who underwent tibiotalocalcaneal (TTC) arthrodesis by the same surgeon, explore the short- and mid-term clinical results, complications and functional improvement, and discuss the clinical prognosis and precautions of TTC arthrodesis. METHODS: Retrospective analysis was made on the clinical data of 40 patients who underwent TTC arthrodesis by the same surgeon from March 2011 to December 2020...

BACKGROUND: Caused by duplications of the gene encoding peripheral myelin protein 22 (PMP22), Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Despite this shared genetic origin, there is considerable variability in clinical severity. It is hypothesized that genetic modifiers contribute to this heterogeneity, the identification of which may reveal novel therapeutic targets. In this study, we present a comprehensive analysis of clinical examination results from 1564 CMT1A patients sourced from a prospective natural history study conducted by the RDCRN-INC (Inherited Neuropathy Consortium)...

OBJECTIVE: We assessed equity in the uptake of remote foot temperature monitoring (RTM) for amputation prevention throughout a large, integrated US healthcare system between 2019 and 2021, including comparisons across facilities and between patients enrolled and eligible patients not enrolled in RTM focusing on the Reach and Adoption dimensions of the Reach, Effectiveness, Adoption, Implementation, and Maintenance (RE-AIM) framework. MATERIAL AND METHODS: To assess whether there was equitable use of RTM across facilities, we examined distributions of patient demographic, geographic, and facility characteristics across facility RTM use categories (e...

BACKGROUND: Given the paucity of literature on the management of infected metalwork and nonunion in neuropathic diabetic patients, a meta-analysis was designed to investigate the two major complications following Charcot reconstruction performed by means of internal fixation methods. METHODS: We searched PubMed, Scopus and CENTRAL until the 17th of May 2022 for completed studies investigating outcomes following midfoot and/or hindfoot and/or ankle diabetic Charcot reconstruction...

Background: If unrecognized, Charcot neuro-osteoarthropathy (CNO) can be a devastating complication of diabetes. Methods: The aim of this retrospective study was to evaluate the outcomes in a cohort of diabetic patients diagnosed with active CNO managed in a tertiary level diabetic foot clinic (DFC). We included consecutive patients with active CNO, stage 0-1, according to the Eichenholtz-Shibata classification, who were referred from 1 January 2019 to 27 September 2022. Diagnosis of CNO was based on clinical signs and imaging (X-rays and magnetic resonance)...

PURPOSE: Consensus on the choice of the most accurate imaging strategy in diabetic foot infective and non-infective complications is still lacking. This document provides evidence-based recommendations, aiming at defining which imaging modality should be preferred in different clinical settings. METHODS: This working group includes 8 nuclear medicine physicians appointed by the European Association of Nuclear Medicine (EANM), 3 radiologists and 3 clinicians (one diabetologist, one podiatrist and one infectious diseases specialist) selected for their expertise in diabetic foot...

BACKGROUND: Even with the best conservative care, patients with Charcot neuroarthropathy (CN) of the foot and ankle often ulcerate, increasing their risk of infection, amputation, and death. Surgical fixation has been associated with risk of recurrent ulceration, potentially due to poor bone quality prone to recurrent deformity and ulceration. We propose midfoot beam reconstruction with PMMA augmentation as a novel means of improving fixation. METHODS: A protocol was developed to create characteristic CN midfoot fragmentation both visually and fluoroscopically in each of 12 matched-pair cadaveric feet...

Critical sized bone defects in the ankle are becoming increasingly more common in patients undergoing limb reconstruction with tibiotalocalcaneal arthrodesis. Bulk allografts have not fared well over time. There have been scattered preliminary reports using custom spinal cages or 3D-printed Titanium Implants to address the critical bony defect; however, the cost of these devices is prohibitive in many clinical practice settings. The purpose of this investigation is to report the preliminary experience using a commercially available Trabecular Metal (Zimmer-Biomet) tibial metaphyseal cone combined with a retrograde locked intramedullary nail to address this challenging problem...

Tibiotalocalcaneal arthrodesis has been shown in literature to have good results in regards to low complication rates and deformity correction. While previous studies have investigated functional outcomes and complication rates, no large-scale studies have looked at pain outcomes. The present study used a retrospective review of 154 extremities to analyze how a patient's comorbidities and characteristics influence pain outcomes following a tibiotalocalcaneal arthrodesis. The present study found an average change of pain from 7...

BACKGROUND: The complex deformities in cavovarus feet of Charcot-Marie-Tooth (CMT) disease are difficult to evaluate. The aim of this study was to quantify the initial standing alignment correction achieved after joint-sparing CMT cavovarus reconstruction using pre- and postoperative weightbearing computed tomography (WBCT). METHODS: Twenty-nine CMT cavovarus reconstructions were retrospectively analyzed. Three-dimensional measurements were performed using semiautomated software (Bonelogic 2...

Our study aims to evaluate the potential of a deep learning (DL) algorithm for differentiating the signal intensity of bone marrow between osteomyelitis (OM), Charcot neuropathic osteoarthropathy (CNO), and trauma (TR). The local ethics committee approved this retrospective study. From 148 patients, segmentation resulted in 679 labeled regions for T1-weighted images (comprising 151 CNO, 257 OM, and 271 TR) and 714 labeled regions for T2-weighted images (consisting of 160 CNO, 272 OM, and 282 TR). We employed both multi-class classification (MCC) and binary-class classification (BCC) approaches to compare the classification outcomes of CNO, TR, and OM...

AIMS: We aimed to investigate the effect of denosumab on pedal bone health and clinical resolution in active Charcot foot (CN). METHODS: This multicentre open-label phase 2 randomised controlled trial recruited adults with diabetes mellitus and active CN within 3 months of onset. Participants were randomised to standard care alone, or with denosumab 60 mg subcutaneously. Denosumab was administered at baseline and again at 6 months, unless foot temperature had normalised (i...

BACKGROUND: Patients with diabetes are at risk for developing diabetic foot ulcers (DFUs). It is recognized that type 2 diabetes (T2D) is distinguished by the loss of vitally important micronutrients because of the metabolic nature of this disease and its associated complexities. OBJECTIVE: This study was performed to determine the level of micronutrients in patients with DFUs in Saudi Arabia. From February to May 2022, this descriptive study was conducted, adopting the cross-sectional design and a group of 88 patients with T2D...

This report presents a case of Charcot-Marie-Tooth dominant intermediate D (CMTDID), a rare subtype of Charcot-Marie-Tooth disease, in a 52 years-old male patient. The patient exhibited mobility impairment, foot abnormalities (pes cavus), and calf muscle atrophy. Whole exome sequencing and Sanger sequencing suggested that a novel variant (NM_000530.8, c.145C>A/p.His49Asn) of MPZ may be the genetic lesion in the patient. The bioinformatic program predicted that the new variant (p.His49Asn), located at an evolutionarily conserved site of MPZ , was neutral...