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Charcot Marie Tooth foot

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https://www.readbyqxmd.com/read/29898585/outcome-measures-in-the-clinical-evaluation-of-ambulatory-charcot-marie-tooth-1a-subjects
#1
Laura Mori, Valeria Prada, Alessio Signori, Davide Pareyson, Giuseppe Piscosquito, Luca Padua, Costanza Pazzaglia, Gian M Fabrizi, Alessandro Picelli, Angelo Schenone
BACKGROUND: The outcome measures (OMs) in clinical trials for Charcot Marie Tooth disease (CMT) still represent an issue. A recent study highlighted that three additional clinical OMs, the 10 meters walk test (10MWT), 9 hole-peg test, and foot dorsal flexion dynamometry, further improve discrimination between severely and mildly affected patients. Another study recently assess the validity and reliability of the 6 Minutes Walking test (6MWT). AIM: To identify the most useful scales in the clinical evaluation of CMT1A patients...
June 11, 2018: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29679921/electromyographic-and-biomechanical-analysis-of-step-negotiation-in-charcot-marie-tooth-subjects-whose-level-walk-is-not-impaired
#2
Tiziana Lencioni, Giuseppe Piscosquito, Marco Rabuffetti, Enrica Di Sipio, Manuela Diverio, Isabella Moroni, Luca Padua, Emanuela Pagliano, Angelo Schenone, Davide Pareyson, Maurizio Ferrarin
BACKGROUND: Charcot-Marie-Tooth (CMT) is a slowly progressive disease characterized by muscular weakness and wasting with a length-dependent pattern. Mildly affected CMT subjects showed slight alteration of walking compared to healthy subjects (HS). RESEARCH QUESTION: To investigate the biomechanics of step negotiation, a task that requires greater muscle strength and balance control compared to level walking, in CMT subjects without primary locomotor deficits (foot drop and push off deficit) during walking...
May 2018: Gait & Posture
https://www.readbyqxmd.com/read/29626178/unique-clinical-and-neurophysiologic-profile-of-a-cohort-of-children-with-cmtx3
#3
Manoj Kanhangad, Kayla Cornett, Megan H Brewer, Garth A Nicholson, Monique M Ryan, Robert L Smith, Gopinath M Subramanian, Helen K Young, Stephan Züchner, Marina L Kennerson, Joshua Burns, Manoj P Menezes
OBJECTIVE: To describe in detail the clinical profile of Charcot-Marie-Tooth disease subtype 3 (CMTX3) to aid appropriate genetic testing and rehabilitative therapy. METHODS: We reviewed the clinical and neurophysiologic profile and CMT Pediatric Scale (CMTPedS) assessments of 11 children with CMTX3. RESULTS: Compared with the more common forms of CMT, CMT1A and CMTX, CMTX3 was characterized by early onset with early and progressive hand weakness...
May 8, 2018: Neurology
https://www.readbyqxmd.com/read/29417158/operative-treatment-algorithm-for-foot-deformities-in-charcot-marie-tooth-disease
#4
REVIEW
J W K Louwerens
The present article presents a short summary concerning the pathomechanisms and clinical presentation of foot deformities in Charcot-Marie-Tooth syndrome. Furthermore, a classification system is introduced and based on a recently performed review of the literature an operative treatment algorithm is provided. The operative technique of the following surgical procedures is described in more detail: 1. dorsiflexion osteotomy at the base of the 1st metatarsus, 2. dorsiflexion osteotomy at the base of a lesser metatarsal bone, 3...
April 2018: Operative Orthopädie und Traumatologie
https://www.readbyqxmd.com/read/29282812/frequency-and-circumstances-of-falls-for-people-with-charcot-marie-tooth-disease-a-cross-sectional-survey
#5
Gita M Ramdharry, Louise Reilly-O'Donnell, Robert Grant, Mary M Reilly
OBJECTIVE: People with Charcot-Marie-Tooth (CMT) disease may be at risk of falls due to distal muscle weakness and sensory impairment. We aimed to understand the frequency of falls in a cohort, where they occurred, injury and to what people attributed the possible cause. DESIGN: A cross-sectional survey design was used. It was sent by post to ascertain the frequency of falls and near falls, plus the circumstances of the last three falls events they could recall...
April 2018: Physiotherapy Research International: the Journal for Researchers and Clinicians in Physical Therapy
https://www.readbyqxmd.com/read/29153916/a-case-with-cmtx1-disease-showing-transient-ischemic-attack-like-episodes
#6
Zehra Aktan, Nihan Hande Akcakaya, Pinar Tekturk, Engin Deniz, Bahar Koyuncu, Zuhal Yapici
Charcot-Marie-Tooth (CMT) disease is a hereditary neurologic disease which affects the sensorial and motor fibers of the peripheral nerves. CMTX1 is an X-linked dominantly inherited subtype of CMT and is caused by mutations in gap junction beta 1 gene (GJB1). A small proportion of GJB1 mutations are associated with recurrent central nervous system findings. We describe a 15-year-old male patient with CMTX1 who had stroke-like findings along with foot deformities and peripheral neuropathy. Strokes and stroke-like attacks are rarely seen in children and adolescents...
March 2018: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29125503/patient-preferences-for-treatments-of-neuromuscular-diseases-a-systematic-literature-review
#7
Erik Landfeldt, Josefin Edström, Peter Lindgren, Hanns Lochmüller
BACKGROUND: Treatment decisions of neuromuscular diseases involve weighing clinical benefits and risks, as well as impact on patient social life, work status, other activities of daily living, and health-related quality of life. OBJECTIVE: To conduct a systemic literature review of patient preferences for treatments of neuromuscular diseases. METHODS: We searched Embase, Web of Science, and PubMed for full-text articles reporting results from studies of patient preferences for treatments of neuromuscular diseases...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29074294/221st-enmc-international-workshop-foot-surgery-in-charcot-marie-tooth-disease-june-10th-12th-2016-naarden-the-netherlands
#8
Mary M Reilly, Davide Pareyson, Joshua Burns, Matilde Laurá, Michael E Shy, Dishan Singh
No abstract text is available yet for this article.
September 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28837237/pseudodominant-inheritance-pattern-in-a-family-with-cmt2-caused-by-gdap1-mutations
#9
Barbara W van Paassen, Marieke Bronk, Camiel Verhamme, Fred van Ruissen, Frank Baas, Karin Y van Spaendonck-Zwarts, Marianne de Visser
We report a family in which an autosomal dominantly inherited Charcot-Marie-Tooth (CMT) disease type 2 was suspected. The affected family members (proband, sister, father, and paternal aunt) showed intrafamilial clinical variability. The proband needed walking aids since adolescence because of generalized muscle weakness. The sister showed the same symptoms although to a lesser extent. The father and paternal aunt had foot deformity and atrophy of lower legs. A homozygous GDAP1 mutation was found in the proband and in the sister...
December 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28632967/prevalence-and-orthopedic-management-of-foot-and-ankle-deformities-in-charcot-marie-tooth-disease
#10
Matilde Laurá, Dishan Singh, Gita Ramdharry, Jasper Morrow, Mariola Skorupinska, Davide Pareyson, Joshua Burns, Richard A Lewis, Steven S Scherer, David N Herrmann, Nicholas Cullen, Christopher Bradish, Luca Gaiani, Nicolò Martinelli, Paul Gibbons, Glenn Pfeffer, Phinit Phisitkul, Keith Wapner, James Sanders, Sam Flemister, Michael E Shy, Mary M Reilly
INTRODUCTION: Foot deformities are frequent complications in Charcot-Marie-Tooth disease (CMT) patients, often requiring orthopedic surgery. However, there are no prospective, randomized studies on surgical management, and there is variation in the approaches among centers both within and between countries. METHODS: In this study we assessed the frequency of foot deformities and surgery among patients recruited into the Inherited Neuropathies Consortium (INC). We also designed a survey addressed to orthopedic surgeons at INC centers to determine whether surgical approaches to orthopedic complications in CMT are variable...
February 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/28630759/the-adult-cavus-foot
#11
Carlos Maynou, Christophe Szymanski, Alexis Thiounn
Cavovarus deformity can be classified by the severity of malalignment ranging from a subtle and flexible to a severe and fixed cavovarus deformity of the foot.In the mild cavovarus foot, careful clinical assessment is required to identify the deformity.Weight-bearing radiographs are necessary to indicate the apex of the deformity and quantify the correction required.Surgery is performed when conservative measures fail and various surgical procedures have been described, including a combination of soft-tissue releases, tendon transfers and osteotomies, all with the aim of achieving a plantigrade and balanced foot...
May 2017: EFORT Open Reviews
https://www.readbyqxmd.com/read/28527386/gait-patterns-of-children-and-adolescents-with-charcot-marie-tooth-disease
#12
Elizabeth Wojciechowski, Amy Sman, Kayla Cornett, Jacqueline Raymond, Kathryn Refshauge, Manoj P Menezes, Joshua Burns
Gait abnormalities reported in childhood Charcot-Marie-Tooth disease (CMT) include foot-drop, reduced ankle power at push-off and increased knee and hip flexion for swing clearance ('steppage-gait'). The purpose of this study was to describe the gait patterns of 60 children aged 6-17 years with CMT (CMTall ) and distinguish differences based on functional weakness using the CMT Pediatric Scale (CMTPedS). Data were captured using Vicon Nexus system and compared to 50 healthy norms. Data were subdivided into three groups denoting increasing severity of dorsiflexion and plantarflexion weakness from the CMTPedS: no difficulty heel or toe walking (CMTND ), difficulty heel walking (CMTDH ), difficulty toe and heel walking (CMTDTH )...
July 2017: Gait & Posture
https://www.readbyqxmd.com/read/28509084/whole-exome-sequencing-identifies-a-novel-homozygous-frameshift-mutation-in-the-mtmr2-gene-as-a-causative-mutation-in-a-patient-with-charcot-marie-tooth-disease-type-4b1
#13
Tameemi Abdalla-Moady, Amir Peleg, Orit Sadeh, Khader Badarneh, Fuad Fares
Charcot-Marie-Tooth (CMT) disease refers to a heterogeneous group of axonal and demyelinating polyneuropathies, characterized by chronic motor and sensory dysfunction. CMT is the most common genetic cause of neuropathy. The present study aimed to identify the gene mutation responsible for CMT in Ashkenazi Jew (AJ) patient. Genomic DNA was extracted from whole blood leukocytes of affected family and normal subject. Whole-exome sequencing was performed using the Illumina HiSeq2500. The DNA region containing the identified mutation was amplified by PCR and sequenced using dye-terminator chemistry and the forward primer...
April 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/28489810/a-case-report-of-hereditary-neuropathy-with-liability-to-pressure-palsies-accompanied-by-type-2-diabetes-mellitus-and-psoriasis
#14
Jing Li, Bing Niu, Xiaoling Wang, Huaiqiang Hu, Bingzhen Cao
RATIONALE: Hereditary neuropathy with liability to pressure palsy (HNPP) is an episodic, multifocal neuropathy, with a typical clinical presentation of recurrent transient pressure palsies, which is induced by a PMP22 deletion. Another neuropathy caused by a PMP22 duplication is Charcot-Marie-Tooth disease type 1A (CMT1A). PMP22 is a gene coding a protein called peripheral myelin protein 22 (PMP22), which plays an essential role in the formation and maintenance of compact myelin. Coexistence of type 2 diabetes mellitus (T2DM) and CMT1A has been reported in many work, however HNPP patients with T2DM are rare, and comorbidity of HNPP and psoriasis has not been reported previously...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28448691/clinical-characterization-and-genetic-analysis-of-korean-patients-with-x-linked-charcot-marie-tooth-disease-type-1
#15
Young Bin Hong, Jin-Mo Park, Jin Seok Yu, Da Hye Yoo, Da Eun Nam, Hyung Jun Park, Ji-Su Lee, Sun Hee Hwang, Ki Wha Chung, Byung-Ok Choi
Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28379183/rapid-identification-of-pathogenic-variants-in-two-cases-of-charcot-marie-tooth-disease-by-gene-panel-sequencing
#16
Chi-Chun Ho, Shuk-Mui Tai, Edmond Chi-Nam Lee, Timothy Shin-Heng Mak, Timothy Kam-Tim Liu, Victor Wai-Lun Tang, Wing-Tat Poon
Charcot-Marie-Tooth disease (CMT) is a common inherited peripheral neuropathy affecting up to 1 in 1214 of the general population with more than 60 nuclear genes implicated in its pathogenesis. Traditional molecular diagnostic pathways based on relative prevalence and clinical phenotyping are limited by long turnaround time, population-specific prevalence of causative variants and inability to assess multiple co-existing variants. In this study, a CMT gene panel comprising 27 genes was used to uncover the pathogenic mutations in two index patients...
April 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28264542/the-efficacy-of-functional-surgery-associated-with-early-intensive-rehabilitation-therapy-in-charcot-marie-tooth-type-1a-disease
#17
Francesco Ferraro, Barbara Dusina, Irene Carantini, Roberto Strambi, Emanuela Galante, Luca Gaiani
BACKGROUND: Charcot-Marie-Tooth (CMT) is a genetically and clinically heterogeneous disorder, and it is caused by alterations in genes with different loci that encode for proteins, resulting into metabolic and structural defects. The most common form of the disease is type 1A. Treatment of the disease, due to the absence of an effective pharmacological therapy, mainly relies on surgical treatment and rehabilitative therapy. However, the literature is still poor of evidences on this subject...
October 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28236508/phenotypical-features-of-a-new-dominant-gdap1-pathogenic-variant-p-r226del-in-axonal-charcot-marie-tooth-disease
#18
Tania García-Sobrino, Patricia Blanco-Arias, Francesc Palau, Carmen Espinós, Laura Ramirez, Anna Estela, Beatriz San Millán, Manuel Arias, María-Jesús Sobrido, Julio Pardo
There are few reports on axonal CMT due to dominant GDAP1 mutations. We describe two unrelated Spanish families with a dominant axonal CMT. A novel in frame GAA deletion in exon 5 of the GDAP1 gene (c.677_679del; p.R226del) was identified in both families. Disease onset varied from early childhood to adulthood. Affected family members complained of distal lower limb weakness, cramps and foot deformities with variable CMTNS score in both families. Several individuals were asymptomatic or had paraesthesia only, however neurological examination and nerve conduction studies demonstrated neuropathic signs...
July 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28063088/mosaicism-for-a-pathogenic-mfn2-mutation-causes-minimal-clinical-features-of-cmt2a-in-the-parent-of-a-severely-affected-child
#19
Katherine Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D Graves, Stephen Abbs, Soo-Mi Park, Gautam Ambegaonkar, Ruth Armstrong
Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the MFN2 gene are the commonest cause for the axonal (CMT2) type. We describe a Caucasian 5-year old girl affected by CMT2A since the age of 2 years. She presented with unsteady gait, in-turning of the feet and progressive foot deformities. Nerve conduction studies suggested an axonal neuropathy and molecular testing identified a previously reported pathogenic variant c...
January 2017: Neurogenetics
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
#20
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
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