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types of pes cavus

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https://www.readbyqxmd.com/read/27882734/novel-mutations-in-sh3tc2-in-a-young-japanese-girl-with-charcot-marie-tooth-disease-type-4c
#1
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/27802481/metatarsal-shape-and-foot-type-a-geometric-morphometric-analysis
#2
Scott Telfer, Matthew W Kindig, Bruce J Sangeorzan, William R Ledoux
Planus and cavus foot types have been associated with an increased risk of pain and disability. Improving our understanding of the geometric differences between bones in different foot types may provide insights into injury risk profiles and have implications for the design of musculoskeletal and finite element models. In this study we performed a geometric morphometric analysis on the geometry of metatarsal bones from 65 feet, segmented from computed tomography scans. These were categorized into four foot types: pes cavus, neutrally aligned, asymptomatic pes planus, and symptomatic pes planus...
November 1, 2016: Journal of Biomechanical Engineering
https://www.readbyqxmd.com/read/27687732/late-onset-friedreich-s-ataxia-lofa-mimicking-charcot-marie-tooth-disease-type-2-what-is-similar-and-what-is-different
#3
Rubens Paulo A Salomão, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Fernanda Maggi, José Luiz Pedroso, Orlando G P Barsottini
Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA). We demonstrate that late-onset Friedreich's ataxia (LOFA) may be a CMT mimicker. This case reinforces that other genetic conditions may clinically resemble CMT. The clinical similarities between CMT and FRDA include a symmetrical neuropathy (axonal in FRDA), steppage gait, and eventually scoliosis...
September 29, 2016: Cerebellum
https://www.readbyqxmd.com/read/27634470/de-novo-p-arg756cys-mutation-of-atp1a3-causes-an-atypical-form-of-alternating-hemiplegia-of-childhood-with-prolonged-paralysis-and-choreoathetosis
#4
Hikaru Kanemasa, Ryoko Fukai, Yasunari Sakai, Michiko Torio, Noriko Miyake, Sooyoung Lee, Hiroaki Ono, Satoshi Akamine, Kei Nishiyama, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto, Toshiro Hara
BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause three types of neurological diseases: AHC; rapid-onset dystonia-Parkinsonism (RDP); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndromes. It remains to be determined whether or not a rare mutation in ATP1A3 may cause atypical phenotypes...
September 15, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27548905/medial-longitudinal-arch-angle-presents-significant-differences-between-foot-types-a-biplane-fluoroscopy-study
#5
Megan E R Balsdon, Kristen M Bushey, Colin E Dombroski, Marie-Eve LeBel, Thomas R Jenkyn
The structure of the medial longitudinal arch (MLA) affects the foot's overall function and its ability to dissipate plantar pressure forces. Previous research on the MLA includes measuring the calcaneal-first metatarsal angle using a static sagittal plane radiograph, a dynamic height-to-length ratio using marker clusters with a multisegment foot model, and a contained angle using single point markers with a multisegment foot model. The objective of this study was to use biplane fluoroscopy to measure a contained MLA angle between foot types: pes planus (low arch), pes cavus (high arch), and normal arch...
October 1, 2016: Journal of Biomechanical Engineering
https://www.readbyqxmd.com/read/27311606/an-explorative-investigation-of-functional-differences-in-plantar-center-of-pressure-of-four-foot-types-using-sample-entropy-method
#6
Zhanyong Mei, Kamen Ivanov, Guoru Zhao, Huihui Li, Lei Wang
In the study of biomechanics of different foot types, temporal or spatial parameters derived from plantar pressure are often used. However, there is no comparative study of complexity and regularity of the center of pressure (CoP) during the stance phase among pes valgus, pes cavus, hallux valgus and normal foot. We aim to analyze whether CoP sample entropy characteristics differ among these four foot types. In our experiment participated 40 subjects with normal feet, 40 with pes cavus, 19 with pes valgus and 36 with hallux valgus...
June 16, 2016: Medical & Biological Engineering & Computing
https://www.readbyqxmd.com/read/27091223/the-genetic-homogeneity-of-capos-syndrome-four-new-patients-with-the-c-2452g-a-p-glu818lys-mutation-in-the-atp1a3-gene
#7
Roderick P P W M Maas, Jolanda H Schieving, Meyke Schouten, Erik-Jan Kamsteeg, Bart P C van de Warrenburg
BACKGROUND: The clinical syndrome of cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) was first described 20 years ago, but it was only recently that whole exome sequencing unveiled the causative mutation in the ATP1A3 gene. We present four patients from the seventh and eighth family identified worldwide, provide a critical review of all patients published thus far, and speculate about the pathophysiologic processes underlying the acute neurological manifestations...
June 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/26518781/incidence-and-type-of-foot-deformities-in-patients-with-spina-bifida-according-to-level-of-lesion
#8
Huseyin Gunay, Murat Celal Sozbilen, Yusuf Gurbuz, Mahmut Altinisik, Beyhan Buyukata
AIM: The previously suggested association between the incidence of high-level foot deformity and muscle imbalance is no longer supported, when evaluated independent from motor and sensory loss and level of lesion, by current studies. The purpose of this study was to evaluate the association between level of lesion and foot deformity. METHODS: Of 545 patients, a total of 136 (272 feet) patients admitted to the spina bifida clinic between 2010 and 2014 were included in this study...
February 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/26479765/x-linked-hereditary-motor-sensory-neuropathy-type-1-cmtx1-in-a-three-generation-gelao-chinese-family
#9
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/26351045/-advances-in-genetic-studies-of-charcot-marie-tooth-disease-type-4-cmt4
#10
REVIEW
Xu Ye, Zhang Jiaying, Yang Boyu, He Zhihong, Zhang Muchen, Yu Zhen, Gu Mingmin
The Charcot-Marie-Tooth disease (CMT) is one of the most common human inherited peripheral neuropathies. The most common pattern of inheritance is autosomal dominant, with less often occurrence autosomal recessive and X-linked dominant/recessive inheritance. CMT is generally divided into three forms: demyelinating forms (CMT1), axonal forms (CMT2) and intermediate forms (DI-CMT). The autosomal recessive form (AR-CMT1 or CMT4) is accompanied by progressive distal muscle weakness and atrophy of the limbs, pes cavus and claw-like hands...
June 2015: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/26298608/spinal-and-bulbar-muscular-atrophy-and-charcot-marie-tooth-type-1a-co-existence-of-two-rare-neuromuscular-genetic-diseases-in-the-same-patient
#11
Anna Sagnelli, Vidmer Scaioli, Giuseppe Piscosquito, Ettore Salsano, Eleonora Dalla Bella, Cinzia Gellera, Davide Pareyson
Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by a trinucleotide CAG repeat expansion in the androgen receptor gene; it is clinically characterized by adult-onset, slowly progressive weakness and atrophy mainly affecting proximal limb and bulbar muscles. Charcot-Marie-Tooth disease type 1A is an autosomal dominant polyneuropathy due to peripheral myelin protein 22 gene duplication and characterized by slowly progressive distal limb muscle weakness, atrophy and sensory loss with foot deformities...
October 2015: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/26161158/the-prevalence-and-severity-of-joint-problems-and-disability-in-patients-with-poliomyelitis-in-urban-india
#12
S Baliga, T Mcmillan, A Sutherland, D Sharan
Poliomyelitis is caused by an enterovirus infection of the anterior horn cells in the spinal cord. Up to 40% of survivors recover full muscle strength, however 60-90% are left with varying degrees of residual paralysis, where the patient suffers from cramping myalgia and lower motor neuron pattern weakness. This study aimed to identify and quantify, in terms of prevalence and severity of the types of joint deformities encountered in polio sufferers. It also aimed to assess the disability caused by such problems...
2015: Open Orthopaedics Journal
https://www.readbyqxmd.com/read/25745327/episodic-neurological-dysfunction-in-hereditary-peripheral-neuropathy
#13
Girish Baburao Kulkarni, Pooja Mailankody, Pawanraj Palu Isnwara, Chandrajit Prasad, Veerendrakumar Mustare
Episodic transient neurological symptoms are an important set of problems presenting to a neurologist in his routine practice. Occasionally, detailed clinical history including past and family history supplemented with focused examination can bring out a rare cause for such symptoms. We describe in this report in a young male presenting with episodic focal neurological dysfunction, with family history of similar episodes in mother and brother. Examination showed features of pes cavus and peripheral neuropathy for which patient was asymptomatic...
January 2015: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/25737037/phenotypic-variability-of-cmt4c-in-a-french-canadian-kindred
#14
Talia L Varley, Pierre R Bourque, Steven K Baker
INTRODUCTION: Charcot-Marie-Tooth type 4C (CMT4C) is an autosomal recessive dysmyelinating neuropathy characterized by precocious and rapidly progressive scoliosis. METHODS: Patients in a French-Canadian kindred were evaluated with clinical examination, electrophysiologic study, and genomic DNA extraction. RESULTS: Six of 10 siblings were clinically symptomatic with supportive electrophysiologic features. The proband presented with regional side-to-side sensorimotor asymmetry, typical pes cavus without obvious scoliosis, and unremarkable plain films of the spine...
September 2015: Muscle & Nerve
https://www.readbyqxmd.com/read/25514270/foot-type-analysis-based-on-electronic-pedobarography-data-in-individuals-with-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type-during-upright-standing
#15
Veronica Cimolin, Manuela Galli, Claudia Celletti, Massimiliano Pau, Marco Castori, Gianfranco Morico, Giorgio Albertini, Filippo Camerota
BACKGROUND: Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is a rheumatologic condition characterized by generalized joint hypermobility and musculoskeletal and nonmusculoskeletal findings related to congenital laxity of connective tissue. Because foot pain and other foot problems are reported to make daily life problematic to manage for individuals with JHS/EDS-HT, and thanks to the availability of modern technology, the aim of the present study was to quantitatively characterize foot type in individuals with JHS/EDS-HT during upright standing...
November 2014: Journal of the American Podiatric Medical Association
https://www.readbyqxmd.com/read/25394475/the-effects-of-foot-type-and-heritability-on-balance-and-plantar-pressure-distribution-of-female-twins
#16
B Shakibi, R Mimar, V Shakibi, H Mohammadi
AIM: Posture and plantar pressure distribution can influence several factors, including both foot type and heritability. Therefore, the purpose was to assess the influence of foot type and heritability and their effects on foot characteristics. Static and dynamic balance and plantar pressure distribution was assessed, and the participants were pairs of female twins. METHODS: Sixteen monozygotic and fourteen dizygotic pairs with no history of injuries were included in this causal-comparative study, divided into three foot types by navicular drop test: pes planus, pes rectus and pes cavus...
September 2015: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/25388615/sural-nerve-biopsy-and-functional-studies-support-the-pathogenic-role-of-a-novel-mpz-mutation
#17
Valeria Prada, Simona Capponi, Giulia Ursino, Antonia Alberti, Ilaria Callegari, Mario Passalacqua, Roberto Marotta, Paola Mandich, Emilia Bellone, Angelo Schenone, Marina Grandis
Our patient is a 65-year-old woman presenting with bilateral pes cavus, pronounced distal muscle wasting, weakness and areflexia. Electrophysiological findings included diffuse unrecordable motor and sensory responses. While the CMT phenotype was evident, the lack of family history and the severe, but unspecific electrophysiological impairment, was a challenge for genetic diagnosis. A sural nerve biopsy was performed, showing a severe loss of myelinated fibers with residual axons surrounded by myelin outfoldings...
June 2015: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/25265422/overlap-phenotype-between-cmt1a-and-hereditary-neuropathy-with-liability-to-pressure-palsies-caused-by-the-novel-small-in-frame-deletion-c-407_418del12-in-pmp22-gene
#18
Katharina Vill, Marius Kuhn, Dieter Gläser, Wolfgang Müller-Felber
We report monozygotic twins, who presented with a clinical picture of Charcot-Marie-Tooth disease type 1 (CMT1) with bilateral foot drop, pes cavus, thoracic kyphosis, and scoliosis. Hereditary neuropathy with liability to pressure palsies (HNPP) showed up in one of them. Neurography showed demyelinating neuropathy, typical for CMT1, and transient conduction block in the ulnar nerve correlating with clinical ulnar palsy due to minor mechanical stress in only one of them. Genetic analysis revealed novel small de novo deletion c...
February 2015: Neuropediatrics
https://www.readbyqxmd.com/read/25237436/a-case-of-cauda-equina-syndrome-in-early-onset-chronic-inflammatory-demyelinating-polyneuropathy-clinically-similar-to-charcot-marie-tooth-disease-type-1
#19
Seung Eun Lee, Seung Won Park, Sam Yeol Ha, Taek Kyun Nam
To present a case of cauda equina syndrome (CES) caused by chronic inflammatory demyelinating polyneuropathy (CIDP) which seemed clinically similar to Charcot-Marie-Tooth disease type1 (CMT1). CIDP is an immune-mediated polyneuropathy, either progressive or relapsing-remitting. It is a non-hereditary disorder characterized by symmetrical motor and sensory deficits. Rarely, spinal nerve roots can be involved, leading to CES by hypertrophic cauda equina. A 34-year-old man presented with low back pain, radicular pain, bilateral lower-extremity weakness, urinary incontinence, and constipation...
June 2014: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/25182405/development-of-low-postural-tone-compensatory-patterns-predicted-dysfunction-patterns-in-lower-part-of-the-body
#20
REVIEW
Anna Gogola, Edward Saulicz, Michał Kuszewski, Małgorzata Matyja, Andrzej Myśliwiec
Lower postural tone is not always associated with central nervous system structural damage. There is such kind of tone that stays within the broadly defined normal range, but is characterized by distinct decrease of tone of the deep muscles responsible for stabilization. External syndromes are features of active or passive compensation observed in the postural and motor patterns. Active compensation of the lower muscle tone is associated with excessive use of the superficial muscles for stabilization that leads to limitation of motion in the joints and to functional shortening of some muscles...
July 2014: Developmental Period Medicine
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