798 results match your criteria Pes Cavus

Clinicopathological features in two families with MARS-related Charcot-Marie-Tooth disease.

Neuropathology 2022 Jun 20. Epub 2022 Jun 20.

Department of Neurology, Peking University First Hospital, Beijing, China.

Mutations in MARS gene cause dominant Charcot-Marie-Tooth disease (CMT) 2U. The aim of this study is to investigate phenotypic heterogeneities and peripheral neuropathology of MARS-related CMT patients. We identified a heterozygous p. Read More

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Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants.

Case Rep Med 2022 24;2022:7492077. Epub 2022 May 24.

AdventHealth Neuroscience Institute, 1573 West Fairbanks Avenue, Suite 210 Winter Park, Orlando, FL, USA.

This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot-Marie-Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical findings of CMT 2K. The study evaluated these five subjects using clinical, laboratory, electrophysiological, and genetic testing. The findings showed that clinical features demonstrated no pes cavus, no significant weakness in the hands or feet, normal reflexes in four out of the five subjects, and mild to normal electrodiagnostic findings. Read More

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Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.

Brain Dev 2022 May 24. Epub 2022 May 24.

Department of Medical Genetics, Lyon University Hospital, LBMMS AURAGEN, Lyon, France.

Introduction: Pathogenic variants in ATP1A3 cause various phenotypes of neurological disorders, including alternating hemiplegia of childhood 2, CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) and rapid-onset dystonia-parkinsonism (RDP). Early developmental and epileptic encephalopathy has also been reported. Polymicrogyria has recently been added to the phenotypic spectrum of ATP1A3-related disorders. Read More

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Ruptured pseudoanuerysm of the posterial tibial artery after percutaneous Achilles tenotomy.

Jacobus Rademan

BMJ Case Rep 2022 Mar 24;15(3). Epub 2022 Mar 24.

Department of Orthopedic Surgery, Frere Hospital, J Rademan, South Africa

Congenital talipes equinovarus (CTEV), or clubfoot, is the the most common encountered musculoskeletal defect encountered at birth. Most cases present as an isolated deformity, with up to half of them presenting with bilateral deformity. CTEV have also been reported to present as part of syndromic phenomena. Read More

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Review of general and head and neck/oral and maxillofacial features of Charcot-Marie-Tooth disease and dental management considerations.

Oral Surg Oral Med Oral Pathol Oral Radiol 2022 06 25;133(6):e170-e177. Epub 2021 Dec 25.

Professor, Director of Clinical Genetics Service, Department of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA.

Charcot-Marie-Tooth disease (CMTD) is an uncommon progressive neuromuscular disorder of the peripheral nervous system and primarily leads to distal extremity weakness and sensory deficits. Frequently, affected patients manifest pes cavus, drop foot, and digit contractures that may pose significant challenges in ambulation and grasping objects. Although there are numerous articles of this syndrome in the medical literature, there is a limited number of dental publications. Read More

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Unilateral Cavovarus Foot From Sciatic Nerve Perineurioma.

Neurol India 2022 Jan-Feb;70(1):178-179

Department of Neurology, Boston Children's Hospital, Boston, USA.

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A novel presentation of an ATP1A3 gene mutation - case report and literature review.

Eur Rev Med Pharmacol Sci 2022 Feb;26(4):1108-1113

Department of Pediatrics, NICU, University of Patras Medical School, Patras, Greece.

Objective: Mutations in the ATP1A3 gene cause the classical disorders of rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC) and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). However, intermediate phenotypes have also been described, making the range of clinical manifestations associated with mutations in the ATP1A3 gene wider. A rare case of an ATP1A3 gene mutation is presented. Read More

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February 2022

Foot Deformity in Patients With Ankylosing Spondylitis: Is It Associated With Functionality and Disease Activity?

J Foot Ankle Surg 2022 Jan 19. Epub 2022 Jan 19.

Professor, University of Health Sciences, Gaziler Physical Medicine and Rehabilitation Education and Research Hospital, Ankara, Turkey.

Foot involvement affects mobility and functionality in patients with ankylosing spondylitis but it remains unknown if foot deformities in ankylosing spondylitis patients affect functionality, disease activity, and quality of life. The aim of this study was to evaluate in detail the presence of a relationship between radiologically detected foot deformities in ankylosing spondylitis patients and both clinical and electrophysiological findings. The cross-sectional study included 110 patients with ankylosing spondylitis who were diagnosed according to the Assessment in Spondyloarthritis International Society criteria and were followed in our hospital. Read More

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January 2022

Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene.

Glob Med Genet 2022 Mar 19;9(1):51-53. Epub 2021 Oct 19.

Institute for Pediatric Neurology, Hamburg, Germany.

This article at hand described a 4-year-old child patient who initially presented with the symptoms of toe walking. As part of the diagnostic process, the patient was genetically tested to find the cause of the gait anomaly. The genetic test found a mutation in the KCNC3 gene. Read More

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One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families.

Front Neurol 2021 28;12:736704. Epub 2022 Jan 28.

Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.

Background And Aims: Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited peripheral neuropathies. The wide phenotypic variability may not be completely explained by a single mutation.

Aims And Methods: To explore the existence of concomitant variants in CMT, we enrolled 189 patients and performed molecular diagnosis by application of next-generation sequencing combined with multiplex ligation-dependent probe amplification. Read More

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January 2022

[Risk factors associated to musculoskeletal pathologies in athletes with cavus foot through baropodometric studies].

Acta Ortop Mex 2021 Jul-Aug;35(4):317-321

Hospital General de León. León, Guanajuato, México.

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. Read More

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February 2022

Outcomes of Naviculectomy for Severe Recurrent Clubfoot Deformity.

Foot Ankle Orthop 2021 Apr 20;6(2):24730114211008155. Epub 2021 Apr 20.

Department of Orthopaedic Surgery Residency, Eastern Tennessee State University, TN, USA.

Background: Naviculectomy was originally described for resistant congenital vertical talus deformity but was later expanded to use in rigid cavus deformity. This study reviews the operative outcomes of complete excision of the navicular for recurrent deformity in the talipes equinovarus (TEV) population.

Methods: After institutional review board approval, all patients undergoing naviculectomy at a single institution were identified. Read More

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A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations.

Cureus 2021 Dec 15;13(12):e20438. Epub 2021 Dec 15.

Pediatric Neurology, Al Jalila Children's Speciality Hospital, Dubai, ARE.

ATP1A3 mutations have been recognized in infants and children presenting with a diverse group of neurological phenotypes, including rapid-onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. A new phenotype of fever-induced paroxysmal muscle weakness and encephalopathy (FIPWE) in patients with ATP1A3 mutations at c.2267G>A p residue 756H has been described most recently in few cases. Read More

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December 2021

Forefoot Adduction, Hindfoot Varus or Pes Cavus: Risk Factors for Fifth Metatarsal Fractures and Jones Fractures? A Systematic Review and Meta-Analysis.

J Foot Ankle Surg 2022 May-Jun;61(3):641-647. Epub 2021 Nov 16.

Department of Orthopedic and Trauma Surgery, Ospedale Regionale di Lugano EOC, Ticino, Switzerland; Ospedale S. Giovanni di Bellinzona e valli EOC, Bellinzona, Switzerland; Department of Orthopedic and Trauma Surgery, Ospedale Regionale di Lugano EOC, Ticino, Switzerland; Department of Orthopedic and Trauma Surgery, Ospedale S. Giovanni di Bellinzona e valli EOC, Bellinzona, Switzerland; Faculty of Biomedical Sciences, Università della Svizzera italiana, Lugano, Switzerland.

The origin of fractures of the fifth metatarsus and Jones fracture is not clear. The goal of this study was to investigate the evidence of anatomical deformities such as metatarsus adductus, hindfoot varus, or pes cavus as risk factors for this pathology. A literature search of records related to the review question was performed screening PubMed/Medline, Embase and Cochrane library databases (last update: May 2020) according to PRISMA guidelines. Read More

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Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

Int J Mol Sci 2022 Jan 4;23(1). Epub 2022 Jan 4.

Department of Bionano Technology, Gachon University, Seongnam 13120, Korea.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease that was originally discovered in the population from the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region in Quebec. Although the disease progression of ARSACS may start in early childhood, cases with later onset have also been observed. Spasticity and ataxia could be common phenotypes, and retinal optic nerve hypermyelination is detected in the majority of patients. Read More

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January 2022

Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.

BMC Neurol 2022 Jan 7;22(1):17. Epub 2022 Jan 7.

Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

Background: Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous hereditary neuropathy, and CMT1A is the most common form; it is caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. Mutations in the transient sodium channel Nav1.4 alpha subunit (SCN4A) gene underlie a diverse group of dominantly inherited nondystrophic myotonias that run the spectrum from subclinical myopathy to severe muscle stiffness, disabling weakness, or frank episodes of paralysis. Read More

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January 2022

Spinal cord detethering without laminectomy or laminotomy.

Surg Neurol Int 2021 14;12:610. Epub 2021 Dec 14.

Department of Neurosurgery, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, United States.

Background: Tethered cord syndrome occurs when there is abnormal tension on the distal spinal cord, which limits its elevation as patients grow. This results in stretching of the neural elements and microvasculature, resulting in both direct and ischemic injury.[7] Animal studies suggest that impairment of oxidative metabolic pathways may contribute to neuronal injury. Read More

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December 2021

Expanding Phenotype of - Related Disorders: A Case Series.

Child Neurol Open 2021 Jan-Dec;8:2329048X211048068. Epub 2021 Nov 3.

Amphia Hospital, Breda, the Netherlands.

Neurologic disorders caused by mutations in the gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Opticus atrophy and Sensorineural hearing loss (CAPOS). In this case series, we describe 3 patients. A mother and her daughter showed an intermediate phenotype different from each other with the same heterozygous missense mutation (p. Read More

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November 2021

Auditory Neuropathy as the Initial Phenotype for Patients With c.2452 G > A: Genotype-Phenotype Study and CI Management.

Front Cell Dev Biol 2021 8;9:749484. Epub 2021 Oct 8.

College of Otolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.

The objective of this study is to analyze the genotype-phenotype correlation of patients with auditory neuropathy (AN), which is a clinical condition featuring normal cochlear responses and abnormal neural responses, and c.2452 G > A (p.E818K), which has been generally recognized as a genetic cause of cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. Read More

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October 2021

Hallux Valgus Deformities: Preferred Surgical Repair Techniques and All-Cause Revision Rates.

Foot Ankle Spec 2021 Oct 25:19386400211040344. Epub 2021 Oct 25.

Lincoln Memorial University DeBusk College of Osteopathic Medicine, Knoxville, Tennessee (ZTT).

Introduction: Hallux valgus is a commonly treated condition by foot and ankle surgeons with more than 200 different described correction techniques. Recurrence rates range from 5% to 50%, with increasing support of the theory that arthrodesis procedures may have a lower recurrence rate than osteotomies. Arthrodesis procedures to the first metatarsophalangeal (MTP) joint or tarsometatarsal (TMT) joint for correction of hallux valgus deformity are becoming more commonly utilized. Read More

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October 2021

Calcaneal osteotomy for hindfoot deformity.

Jean Brilhault

Orthop Traumatol Surg Res 2022 02 20;108(1S):103121. Epub 2021 Oct 20.

Service de Chirurgie Orthopédique, Hôpital Trousseau, CHRU de Tours, avenue de la République, Chambray-lès-Tours, 37044 Tours cedex 9, France; Faculté de Médecine de Tours, 10, boulevard Tonnellé, 37032 Tours cedex 1, France. Electronic address:

Calcaneal osteotomy is an extra-articular procedure used for conservative surgical treatment of hindfoot deformity. It has static, architectural and dynamic effects, reorienting the tuberosity action point of the digastric muscle formation of the sural triceps and plantar aponeurosis. Calcaneal osteotomies vary in location, form and displacement, but can be categorized as tuberosity osteotomy, acting on talar position, and cervical osteotomy, acting on Chopart joint-line orientation. Read More

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February 2022

Expanding the Phenotypic Spectrum of -Associated Distal Arthrogryposis.

Children (Basel) 2021 Oct 13;8(10). Epub 2021 Oct 13.

Department of Neurology, National Institute of Mental Health and Neuro-Sciences, Bengaluru 560029, India.

Distal arthrogryposis type 5D (DA5D), a rare autosomal recessive disorder, is caused by mutations in We describe two consanguineous families (three patients) with novel gene mutations detected by next-generation sequencing (NGS). A 12-year-old boy (patient 1) presented with birth asphyxia, motor developmental delay, multiple joint contractures, pes planus, kyphoscoliosis, undescended testis, hypophonic speech with a nasal twang, asymmetric ptosis, facial weakness, absent abductor pollicis brevis, bifacial, and distal lower limb weakness. Muscle MRI revealed asymmetric fatty infiltration of tensor fascia lata, hamstring, lateral compartment of the leg, and gastrocnemius. Read More

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October 2021

Surgical correction of foot equino-cavocarus deformity in Klippel-Trénaunay-Weber syndrome: a case report.

J Surg Case Rep 2021 Oct 12;2021(10):rjab434. Epub 2021 Oct 12.

Medical Intern, King Saud University Medical City, Riyadh, Saudi Arabia.

Klippel-Trénaunay-Weber syndrome (KTWS) is a rare condition characterized by a classic clinical triad. However, it can also have other features, such as cavocarus foot deformity, which is a rare presentation in a patient with KTWS. In this case report, we present our surgical technique of correcting such a complex deformity. Read More

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October 2021

Cavus Foot Correction Using a Full Percutaneous Procedure: A Case Series.

Int J Environ Res Public Health 2021 09 25;18(19). Epub 2021 Sep 25.

Department of Surgery, Faculty of Medicine, Campus Porangabussu, Federal Universiy of Ceará, Fortaleza 60430-160, Brazil.

Cavus foot is a tri-planar deformity that requires correction in several bones and soft tissue. Minimally invasive surgeries are less aggressive, faster and easier to recover from. Here, we describe the initial results of a technique for percutaneous cavus foot correction. Read More

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September 2021

Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in in Northern Finland.

Neurol Genet 2021 Dec 5;7(6):e629. Epub 2021 Oct 5.

Medical Research Center Oulu, University of Oulu and Oulu University Hospital (M.L., K.M., M.Kärppä); Research Unit of Clinical Neuroscience, University of Oulu (M.L., K.M., M.Kärppä); Department of Neurology, Oulu University Hospital (M.L., K.M., M.Kärppä); Department of Clinical Neurophysiology, Medical Research Center Oulu, Oulu University Hospital (M.Kallio); Research Unit of Medical Imaging, Physics and Technology, Faculty of Medicine, University of Oulu (M.Kallio), Oulu, Finland.

Background And Objectives: Mutations in the ganglioside-induced differentiation-associated protein 1 () gene cause autosomal dominant or autosomal recessive forms of Charcot-Marie-Tooth disease (CMT). Our aim was to study the clinical phenotype of patients with CMT caused by heterozygous p.His123Arg in . Read More

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December 2021

Infantile-Onset Charcot-Marie-Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a Gene Variant: A Case Report and Brief Review of the Literature.

Front Neurol 2021 22;12:718808. Epub 2021 Sep 22.

Struttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda Unità Sanitaria Locale - Istituto di Ricerca e Cura a Carattere Scientifico di Reggio Emilia, Reggio Emilia, Italy.

Charcot-Marie-Tooth (CMT) is the most frequent group of inherited neuropathies and includes several heterogeneous phenotypes. Over 80 causative genes have been described so far. Variants in the microrchidia family CW-type zinc finger 2 () gene have been described in several axonal polyneuropathy (CMT2) patients with childhood or adult onset. Read More

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September 2021

Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT.

Neurol Sci 2022 Apr 6;43(4):2759-2764. Epub 2021 Oct 6.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal/Child Sciences, Genova, Italy.

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy with an estimated prevalence of 1 person affected on 2500. Frequent symptoms include distal weakness and muscle wasting, sensory loss, reduced deep tendon reflexes, and skeletal deformities, such as hammer toes and pes cavus. CMT is a progressive disease and patients' needs change over their lifetime. Read More

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Genetically altered animal models for ATP1A3-related disorders.

Dis Model Mech 2021 10 6;14(10). Epub 2021 Oct 6.

School of Biomedical Sciences, University of Leeds, Leeds LS2 9JT, UK.

Within the past 20 years, particularly with the advent of exome sequencing technologies, autosomal dominant and de novo mutations in the gene encoding the neurone-specific α3 subunit of the Na+,K+-ATPase (NKA α3) pump, ATP1A3, have been identified as the cause of a phenotypic continuum of rare neurological disorders. These allelic disorders of ATP1A3 include (in approximate order of severity/disability and onset in childhood development): polymicrogyria; alternating hemiplegia of childhood; cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss syndrome; relapsing encephalopathy with cerebellar ataxia; and rapid-onset dystonia-parkinsonism. Some patients present intermediate, atypical or combined phenotypes. Read More

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October 2021


Acta Ortop Bras 2021 Jul-Aug;29(4):177-180

Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo, SP, Brazil.

Objective: The medial longitudinal arch is the main structure of load bearing and shock absorption of the foot. The evaluation of medial longitudinal arch, such as the navicular height, the medial longitudinal arch angle and the Feiss line should be performed with the subtalar joint in the neutral and relaxed position. Our study analyzed the correlation between the measurements of the subtalar joint in neutral and relaxed positions during the evaluation tests of the medial longitudinal arch. Read More

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Pes Planus Foot among the First and Second Year Medical Students of a Medical College: A Descriptive Cross-sectional Study.

JNMA J Nepal Med Assoc 2021 Apr 30;59(236):327-330. Epub 2021 Apr 30.

Department of Anatomy, Nobel Medical College and Teaching Hospital, Biratnagar, Nepal.

Introduction: Foot is a complex segmented structure formed by the articulation of 26 different bones which are held together by multiple ligaments, extrinsic tendons and the intrinsic muscles of the feet. The assessment of median longitudinal arch serves as an important reference in determining the degree of pes planus or pes cavus. This study aims to find the prevalence of pes planus among the undergraduate medical students of a medical college. Read More

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