Charcot Marie Tooth foot

Dynamin is an endocytic protein that functions in vesicle formation by scission of invaginated membranes. Dynamin maintains the structure of foot processes in glomerular podocytes by directly and indirectly interacting with actin filaments. However, molecular mechanisms underlying dynamin-mediated actin regulation are largely unknown. Here, biochemical and cell biological experiments were conducted to uncover how dynamin modulates interactions between membranes and actin in human podocytes. Actin-bundling, membrane tubulating, and GTPase activities of dynamin were examined in vitro using recombinant dynamin 2-wild-type (WT) or dynamin 2-K562E, which is a mutant found in Charcot-Marie-Tooth patients...

Many authors consider the Ilizarov method as the best choice for correction of complex multiplanar foot deformities. Fifty-one patients, for a total of 55 feet, underwent V or Y osteotomy (respectively 32 and 23), 12 were due to congenital clubfoot outcomes, 11 were from post-traumatic pathologies, 9 from hemimelia, 7 from Charcot-Marie-Tooth, 5 from poliomyelitis, 3 from spina bifida, 2 from myopathy, 2 from poly-epiphyseal dysplasia, 1 from achondroplasia, 1 from arthrogryposis, 1 patient from Charcot's foot and 1 rheumatoid arthritis...

BACKGROUND: Children with the most common inherited neuropathy, Charcot-Marie-Tooth disease (CMT), are often prescribed ankle-foot orthoses (AFOs) to improve walking ability and prevent falls by reducing foot drop, postural instability, and other gait impairments. These externally worn assistive devices are traditionally custom-made using thermoplastic vacuum forming. This labour-intensive manufacturing process often results in AFOs which are cumbersome due to limited design options, and are associated with low acceptability, discomfort, and suboptimal impact on gait...

BACKGROUND: The present study aimed to assess the gait capacity of youths with Charcot Marie Tooth disease (CMT), considering the different foot postures as a grouping variable.  METHODS: The total distance, the predicted distance, and gait velocity obtained during the six-minute walking test (6MWT) were compared between participants with and without CMT. In addition, part of the CMT group completed a 12-month follow-up. The study evaluated 63 participants (CMT group = 31; Non-CMT group = 32) aged 6 to 18, both sexes...

Background and Objective: Absolute angle represents the inclination of a body segment relative to a fixed reference in space. This work compares the absolute and relative angles for exploring biomechanical gait constraints. Methods: Gait patterns of different neuromotor conditions were analyzed using 3D gait analysis: normal gait (healthy, H), Cerebral Palsy (CP), Charcot Marie Tooth (CMT) and Duchenne Muscular Dystrophy (DMD), representing central and peripheral nervous system and muscular disorders, respectively...

BACKGROUND: Orthopedic footwear is often prescribed to improve postural stability during standing and walking in individuals with Hereditary Motor Sensory Neuropathy. However, supporting evidence in literature is scarce. The aim of this study was to investigate the effect of orthopedic footwear on quiet standing balance, gait speed, spatiotemporal parameters, kinematics, kinetics and dynamic balance in individuals with Hereditary Motor Sensory Neuropathy. METHODS: Fifteen individuals with Hereditary Motor Sensory Neuropathy performed a quiet standing task and 2-min walk test on customized orthopedic footwear and standardized footwear...

BACKGROUND: The complex deformities in cavovarus feet may be difficult to assess and understand. Weightbearing computed tomography (WBCT) is increasingly used in evaluating complex deformities. However, the bone axes may be difficult to calculate in the setting of severe deformity. Computer-assisted 3D axis calculation is a novel approach that may allow for more accurate assessment of foot alignment or deformity. This study aimed to assess differences in measurements done manually on 2D slices of WBCT vs 3D computer models in normal and cavus feet...

Inherited peripheral neuropathies (IPNs) are a heterogeneous group of disorders of the peripheral nervous system. The most common type of IPN is Charcot-Marie-Tooth (CMT) disease, which constitutes an interesting research focus for neurologists and human geneticists alike. Most cases with CMT manifest with a slowly progressive symmetric distal weakness in the lower limbs that usually begin in the first to the third decade that causes atrophy and foot drop. Deep tendon reflexes are usually absent or reduced...

INTRODUCTION: The cavus foot is a musculoskeletal pathology with an increase of the medial arch of the concavity of the foot. The etiology of the cavus foot is still enigmatic, it is related with neurologic conditions, Charcot-Marie-Tooth disease, Friedreich's ataxia, and cerebral palsy. The aim of this research was to analyze the plantar pressure distribution of the feet on young athletes with cavus foot. MATERIAL AND METHODS: Eighty-three young athletes between nine and 20 years old, that presented cavus feet pathology were recruited...

BACKGROUND: Pain, either nociceptive or neuropathic (NP), is a common symptom in Charcot-Marie-Tooth (CMT) disease. METHODS: We investigated small fibers involvement and its correlation with pain in different CMT subtypes through a systematic clinical and neurophysiological study. We enrolled 50 patients: 19 with duplication of PMP22 (CMT1A), 11 with mutation of MPZ (CMT1B, CMT2I/J, or CMTDID), 12 with mutation of GJB1 (CMTX1), and 8 with mutation of MFN2 (CMT2A and CMT2A2B)...

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No abstract text is available yet for this article.

No abstract text is available yet for this article.

No abstract text is available yet for this article.

BACKGROUND: Paediatric flat feet are a common presentation in primary care; reported prevalence approximates 15%. A minority of flat feet can hurt and limit gait. There is no optimal strategy, nor consensus, for using foot orthoses (FOs) to treat paediatric flat feet. OBJECTIVES: To assess the benefits and harms of foot orthoses for treating paediatric flat feet. SEARCH METHODS: We searched CENTRAL, MEDLINE, and Embase to 01 September 2021, and two clinical trials registers on 07 August 2020...

BACKGROUND: The cavovarus deformity of Charcot-Marie-Tooth (CMT) disease is often characterized by a paradoxical relationship of hindfoot varus and forefoot valgus. The configuration of the midfoot, which links these deformities, is poorly understood. Accurate assessment of 3-dimensional alignment under physiologic loadbearing conditions is possible using weightbearing computed tomography (WBCT). This is the first study to examine the rotational deformity in the midfoot of CMT patients and, thus, provide key insights to successful correction of CMT cavovarus foot...

BACKGROUND: Paediatric flat feet are a common presentation in primary care; reported prevalence approximates 15%. A minority of flat feet can hurt and limit gait. There is no optimal strategy, nor consensus, for using foot orthoses (FOs) to treat paediatric flat feet. OBJECTIVES: To assess the benefits and harms of foot orthoses for treating paediatric flat feet. SEARCH METHODS: We searched CENTRAL, MEDLINE, and Embase to 01 September 2021, and two clinical trials registers on 07 August 2020...

BACKGROUND: Although long suspected, it has yet to be shown whether the foot and ankle deformities of Charcot-Marie-Tooth disease (CMT) are generally associated with abnormalities in osseous shape. Computed tomography (CT) was used to quantify morphologic differences of the calcaneus, talus, and navicular in CMT compared with healthy controls. METHODS: Weightbearing CT scans of 21 patients (27 feet) with CMT were compared to those of 20 healthy controls. Calcaneal measurements included radius of curvature, sagittal posterior tuberosity-posterior facet angle, and tuberosity coronal rotation...

BACKGROUND: Outpatient surgical deformity correction for Charcot-Marie-Tooth (CMT) disease is limited by effective postoperative pain control. Our previous institutional protocol for foot and ankle surgery in this population included preoperative single-injection nerve blocks, but patients often experienced uncontrolled pain when the block wore off postoperative day 0 or 1, resulting in high opioid requirements and unplanned emergency department visits. The use of ultrasonography-guided continuous nerve catheters in CMT patients has not previously been studied...

The neurologic causes of foot and leg dysfunction are reviewed. Disorders causing foot and ankle pain, weakness, or other sensorimotor disturbances often cause difficulty with ambulation and prompt patients to seek medical evaluation. Physical signs and symptoms along with targeted diagnostic testing are needed to come to the correct diagnosis and treatment plan. An overview of peripheral nerve, muscle, and central nervous system disorders affecting the foot and leg are discussed.