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Charcot Marie Tooth foot

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https://www.readbyqxmd.com/read/27907123/mice-hemizygous-for-a-pathogenic-mitofusin-2-allele-exhibit-hind-limb-foot-gait-deficits-and-phenotypic-perturbations-in-nerve-and-muscle
#1
Peter Bannerman, Travis Burns, Jie Xu, Laird Miers, David Pleasure
Charcot-Marie-Tooth disease type 2A (CMT2A), the most common axonal form of hereditary sensory motor neuropathy, is caused by mutations of mitofusin-2 (MFN2). Mitofusin-2 is a GTPase required for fusion of mitochondrial outer membranes, repair of damaged mitochondria, efficient mitochondrial energetics, regulation of mitochondrial-endoplasmic reticulum calcium coupling and axonal transport of mitochondria. We knocked T105M MFN2 preceded by a loxP-flanked STOP sequence into the mouse Rosa26 locus to permit cell type-specific expression of this pathogenic allele...
2016: PloS One
https://www.readbyqxmd.com/read/27882734/novel-mutations-in-sh3tc2-in-a-young-japanese-girl-with-charcot-marie-tooth-disease-type-4c
#2
Kazushi Ichikawa, Keita Numasawa, Saoko Takeshita, Akihiro Hashiguchi, Hiroshi Takashima
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2. We describe the case of a 10-year-old Japanese girl diagnosed with CMT4C. The patient developed progressive foot deformities such as marked pes cavus and ankle contracture, with mild muscle weakness in both legs, and generalized areflexia. On electrophysiological studies, motor nerve conduction velocity ranged from 22...
November 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27866730/hereditary-neuropathies-an-update
#3
REVIEW
T Stojkovic
Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability...
December 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27825708/is-non-operative-management-of-childhood-neurologic-cavovarus-foot-effective
#4
H d'Astorg, V Rampal, R Seringe, C Glorion, P Wicart
INTRODUCTION: Neurologic pes cavus is a progressive deformity that is difficult to treat during growth. The present study reports results of non-operative management, based on the pathophysiology of the deformity, by untwisting nocturnal splint, preceded in some cases by untwisting walking cast. The objective was to assess efficacy and impact on indications for surgery. METHOD: Twenty-three children (35 feet) were included. All had neurologic cavovarus foot, which was progressive in 24 feet (69%) (Charcot-Marie-Tooth disease)...
December 2016: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/27703571/the-role-of-rehabilitation-in-the-management-of-patients-with-charcot-marie-tooth-disease-report-of-two-cases
#5
Erieta Nikolikj Dimitrova, Ivana Božinovikj, Simona Ristovska, Aleksandra Hadzieva Pejcikj, Aleksandra Kolevska, Mirjeta Hasani
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a hereditary disease with signs of chronic non-progressive motor-sensory neuropathy which is characterised by symmetric muscle atrophy and weakness of the distal portion of lower extremities. AIM: The aim is to present two cases with peroneal muscular atrophy, applied rehabilitation procedures and rehabilitation outcome. MATERIAL AND METHODS: Patient DR, aged 51, and patient KH, aged 78. Both patients had weakness and pronounced atrophy of the distal portion of lower extremities, numbness down the legs, contractures in the ankles and walking difficulties...
September 15, 2016: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/27513454/gait-in-children-and-adolescents-with-charcot-marie-tooth-disease-a-systematic-review
#6
Rachel A Kennedy, Kate Carroll, Jennifer L McGinley
Symptoms of Charcot-Marie-Tooth disease (CMT) typically arise in childhood or adolescence with gait difficulty most common. A systematic review was conducted to synthesize, review and characterise gait in pediatric CMT. Health related electronic databases were reviewed with search terms related to CMT and gait. Of 454 articles, ten articles describing seven studies met eligibility criteria; samples ranged from 1-81, included mixed CMT subtypes and had a participant mean age of 13 years. Assessments included a variety of methods to examine only barefoot gait...
August 11, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27491052/postural-instability-in-charcot-marie-tooth-1a-disease
#7
Stefano Tozza, Maria Gabriella Aceto, Chiara Pisciotta, Dario Bruzzese, Rosa Iodice, Lucio Santoro, Fiore Manganelli
The aim of this study was to evaluate the influence of somatosensory impairment, distal muscle weakness and foot deformities on the balance in 21 CMT1A patients using a baropodometric platform. Stabilometric analysis by measuring sway area and velocity of a centre of pressure (CoP) both at open and closed eyes were used to assess postural imbalance. Static analysis, by measuring the load and the plantar surface of forefoot, midfoot and hindfoot was used to define the footprint shape and to assess as a whole foot deformities...
September 2016: Gait & Posture
https://www.readbyqxmd.com/read/27469267/laing-distal-myopathy-with-a-novel-mutation-in-exon-34-of-the-myh7-gene
#8
A Ferbert, A Zibat, B Rautenstrauß, W Kress, M Hügens-Penzel, J Weis, Y Shah, C Roth
We investigated a four-generation family of German ancestry with distal myopathy. Four individuals in two generations were affected. Foot and toe extensor paresis progressing very slowly over decades was the core neurological sign, reflected by fatty infiltration of the lower leg extensor muscles on muscle MRI. Additionally, finger extensor paresis was present in two patients and quadriceps muscle paresis in one. Distal sensory signs had initially given rise to the diagnosis of axonal Charcot-Marie-Tooth (CMT) disease...
September 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27261803/what-s-new-in-severe-deformity-correction-the-german-perspective
#9
REVIEW
Sebastian Schmitt, Anna C Peak, Gregor Berrsche, Wolfram Wenz
Foot deformities are found in several neurologic conditions, most typically, but not exclusively, Charcot-Marie-Tooth disease. Posttraumatic deformities and undercorrection or overcorrection of congenital talipes equinovarus are also encountered. A severely deformed foot that cannot fit into normal shoes presents a significant day-to-day challenge to the young and active patient. This article presents some basic principles for evaluating the deformity and a toolkit of procedures to deal with these complex cases...
June 2016: Foot and Ankle Clinics
https://www.readbyqxmd.com/read/27077056/acquired-pes-cavus-in-charcot-marie-tooth-disease
#10
Daniel Augusto Carvalho Maranho, José Batista Volpon
Hereditary motor and sensory neuropathies, especially Charcot-Marie-Tooth disease, are frequently expressed with an acquired cavusvarus foot which is characterized by a fixed increase of the plantar arch and hindfoot inversion. Diagnosis of the underlying condition achieved through careful patient assessment and local evaluations is the keystone for decision-making about the adequate treatment. The cavus may present as an isolated deformity of the forefoot, hindfoot or it may be a combination of both locations...
January 2009: Revista Brasileira de Ortopedia
https://www.readbyqxmd.com/read/27043305/phenotypic-variability-of-childhood-charcot-marie-tooth-disease
#11
Kayla M D Cornett, Manoj P Menezes, Paula Bray, Mark Halaki, Rosemary R Shy, Sabrina W Yum, Timothy Estilow, Isabella Moroni, Maria Foscan, Emanuela Pagliano, Davide Pareyson, Matilde Laurá, Trupti Bhandari, Francesco Muntoni, Mary M Reilly, Richard S Finkel, Janet Sowden, Katy J Eichinger, David N Herrmann, Michael E Shy, Joshua Burns
IMPORTANCE: Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensively characterized, either within or between types of CMT to date. OBJECTIVE: To assess the variability of disease severity in a large cohort of children and adolescents with CMT. DESIGN, SETTING, AND PARTICIPANTS: A cross-sectional study was conducted among 520 children and adolescents aged 3 to 20 years at 8 universities and hospitals involved in the Inherited Neuropathies Consortium between August 6, 2009, and July 31, 2014, in Australia, Italy, the United Kingdom, and the United States...
June 1, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27012083/-surgical-management-of-anterior-cavas-foot-in-charcot-marie-tooth-patients-five-year-follow-up
#12
RANDOMIZED CONTROLLED TRIAL
P Parra-Tellez, J L Hernández-González, E López-Gavito, J Vázquez-Escamilla
UNLABELLED: Hereditary sensorimotor neuropathy involves foot deformities such as varus and cavus foot and claw toes. Several surgical techniques have been described to treat Charcot-Marie-Tooth disease. OBJECTIVE: To assess the clinical and functional result of "V" basal osteotomy of the central metatarsals with elevation of the first metatarsal, dorsal osteotomy plus closing osteotomy, and elevation of the fifth metatarsal in Charcot-Marie-Tooth patients during a five-year period...
March 2015: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/26956144/a-novel-p-val244leu-mutation-in-mfn2-leads-to-charcot-marie-tooth-disease-type-2
#13
Yuan Yang, Ling Li
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is one of the most common hereditary peripheral neuropathy. The major clinical features of CMT are progressive muscle weakness of distal extremities and sensory loss. MFN2 encodes a GTPase dynamin-like protein mitofusin 2 and plays an essential role in mitochondrial functions. In previous studies, MFN2 mutations have been linked to neurological disorders including CMT type 2 (CMT2). Here, we report a novel mutation in MFN2 which leads to CMT 2...
2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/26764300/-rehabilitation-of-charcot-marie-tooth-disease
#14
REVIEW
Fumihiro Tajima, Takeshi Nakamura, Yukihide Nishimura, Hideki Arakawa, Takashi Kawasaki, Takahiro Ogawa, Kazunari Nishiyama
Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neuromuscular diseases causing progressive muscle weakness; contracture; deformity in the feet, legs, and hands; and impairments of ambulation and handgrip. Reduced physical ability can be attributed not only to the disease but also to physical deconditioning. Previously, most physicians in the field of rehabilitation were anxious about the hypothesis of overwork weakness in CMT, and did not conduct intensive exercise programs for patients with CMT...
January 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/26764299/-treatment-for-patients-with-charcot-marie-tooth-disease-orthopaedic-aspects
#15
REVIEW
Kota Watanabe
The orthopedic manifestations in patients with Charcot-Marie-Tooth disease include deformity and dysfunction of the extremities and spine. Conservative treatment is the first choice. Orthosis and rehabilitation can improve function, and are important for the prevention of joint contractures. Foot problems are most commonly observed and require surgical treatment. Foot deformities include pes cavus, cavovarus, claw toes, or drop foot. Single or combined surgeries selected for soft tissues are plantar release, tendon transfer, or Achilles tendon lengthening, and those for bones are osteotomies and joint fusions...
January 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/26617675/cavovarus-deformity-in-charcot-marie-tooth-disease-is-there-a-hindfoot-equinus-deformity-that-needs-treatment
#16
Nicholas A Beckmann, Sebastian I Wolf, Daniel Heitzmann, Annika Wallroth, Sebastian Müller, Thomas Dreher
BACKGROUND: Charcot-Marie-Tooth disease (CMT), one of the most common hereditary neurologic disorders, often results in debilitating cavovarus foot deformities. The deformities are still not fully understood, and the treatment recommendations are consequently heterogeneous, often including calf muscle or Achilles tendon lengthening. METHODS: We examined 40 patients (80 feet) with CMT and bilateral cavovarus deformities (19 men and 21 women, mean age 33.6 ± 14...
2015: Journal of Foot and Ankle Research
https://www.readbyqxmd.com/read/26556829/als5-spg11-kiaa1840-mutations-cause-autosomal-recessive-axonal-charcot-marie-tooth-disease
#17
Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H St George-Hyslop, Orlando G P Barsottini, Toshitaka Kawarai, Antonio Orlacchio
Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼ 40% of autosomal recessive juvenile amyotrophic lateral sclerosis...
January 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/26543504/correlates-of-functional-ankle-instability-in-children-and-adolescents-with-charcot-marie-tooth-disease
#18
Kristy J Rose, Claire E Hiller, Melissa Mandarakas, Jacqueline Raymond, Kathryn Refshauge, Joshua Burns
BACKGROUND: Functional ankle instability (FAI) is commonly reported by children and adolescents with Charcot-Marie-Tooth disease (CMT), however,, the specific variables associated with FAI remain unknown. An improved understanding of these variables may suggest interventions to improve ankle stability and possibly prevent the long-term complications associated with ankle instability in this population. The aim of this study was to therefore investigate the relationship between FAI and other functional, structural, anthropometric and demographic characteristics in a cross sectional sample of children and adolescents with CMT...
2015: Journal of Foot and Ankle Research
https://www.readbyqxmd.com/read/26479765/x-linked-hereditary-motor-sensory-neuropathy-type-1-cmtx1-in-a-three-generation-gelao-chinese-family
#19
Xiao Mei Shu, Mao Qiang Tian, Juan Li, Long Ying Peng, Xiao Hua Yu
In this report, we describe a three-generation family (the Gelao nationality, a minority ethnic group from Guizhou Province in the southwest China) with one affected member with Charcot-Marie-Tooth neuropathy X type 1 (CMTX1) in each generation. The three affected members carrying the R164W mutation in the Cx32 gene had different clinical symptoms. The proband, a 13-year-old boy presented recurrent episodes of transient central nervous system symptoms and concomitant transient diffuse white matter lesions on magnetic resonance imaging...
December 2015: Neuropediatrics
https://www.readbyqxmd.com/read/26310628/genotype-phenotype-characteristics-and-baseline-natural-history-of-heritable-neuropathies-caused-by-mutations-in-the-mpz-gene
#20
Oranee Sanmaneechai, Shawna Feely, Steven S Scherer, David N Herrmann, Joshua Burns, Francesco Muntoni, Jun Li, Carly E Siskind, John W Day, Matilde Laura, Charlotte J Sumner, Thomas E Lloyd, Sindhu Ramchandren, Rosemary R Shy, Tiffany Grider, Chelsea Bacon, Richard S Finkel, Sabrina W Yum, Isabella Moroni, Giuseppe Piscosquito, Davide Pareyson, Mary M Reilly, Michael E Shy
We aimed to characterize genotype-phenotype correlations and establish baseline clinical data for peripheral neuropathies caused by mutations in the myelin protein zero (MPZ) gene. MPZ mutations are the second leading cause of Charcot-Marie-Tooth disease type 1. Recent research makes clinical trials for patients with MPZ mutations a realistic possibility. However, the clinical severity varies with different mutations and natural history data on progression is sparse. We present cross-sectional data to begin to define the phenotypic spectrum and clinical baseline of patients with these mutations...
November 2015: Brain: a Journal of Neurology
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