909 results match your criteria: "Pes Cavus"

Accurate measurement of the foot contact area is crucial for diagnosing pes planus (flatfoot) and pes cavus (high arch), which significantly affect pressure distribution across the plantar surface. This study aimed to develop a program using ChatGPT-4 to automate foot contact area measurements using a podoscope, thereby enhancing diagnostic precision. A 53-year-old female volunteer stood on a podoscope to capture images of her feet, which were processed to isolate the foot contours and measure the contact areas.

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Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant.

BMC Nephrol

November 2024

Department of Nephrology (Key Laboratory of Management of Kidney Disease in Zhejiang Province), Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Tiyuchang Road 453, Hangzhou, 310007, People's Republic of China.

Background: Renal disease is associated with Charcot-Marie-Tooth disease (CMT), a common inherited neurological disorder. Three forms of CMT have been identified: CMT1 of the demyelinating type, CMT2 of the axonal defect type, and intermediate type (Int-CMT). INF2 is an important target for variants that cause the complex symptoms of focal segmental glomerulosclerosis (FSGS) and CMT.

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Background: Charcot-Marie-Tooth disease is a spectrum of inherited disorders characterized by both motor and sensory manifestations, which include prominent distal muscle weakness, foot deformities (pes cavus and hammer toes), and sensory deficits. Postural tremor as a manifestation of Charcot-Marie-Tooth is seldom present, except in a variant of Charcot-Marie-Tooth subtype 1 (Roussy-Levy syndrome), and its presence often results in a diagnostic dilemma.

Case Presentation: We present a 34-year-old Eritrean man who came to our hospital with a complaint of tremors of the hands of 6 months duration.

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Small Complex Rearrangement in -Related Axonal Neuropathy.

Genes (Basel)

November 2024

Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.

Background: Autosomal recessive inherited pathogenetic variants in the histidine triad nucleotide-binding protein 1 () gene are responsible for an axonal Charcot-Marie-Tooth neuropathy associated with neuromyotonia, a phenomenon resulting from peripheral nerve hyperexcitability that causes a spontaneous muscle activity such as persistent muscle contraction, impaired relaxation and myokymias.

Methods: Herein, we describe two brothers in whom biallelic variants were identified following a multidisciplinary approach.

Results: The younger brother came to our attention for clinical evaluation of moderate intellectual disability, language developmental delay, and some behavioral issues.

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Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy involving approximately 80 pathogenic genes. Whole-exome sequencing (WES) and confirmatory Sanger sequencing analysis was applied to identify the disease-causing mutations in a Chinese patient with lower limb weakness. We present an 18-year-old male with a 2.

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Article Synopsis
  • Neurogenetic disorders linked to mutations in spectrin genes lead to a wide range of symptoms, from peripheral nervous system issues to complex syndromes, emphasizing their diverse impact.
  • An international study identified 14 families with unexplained distal weakness due to heterozygous loss-of-function variants, collecting standardized clinical and imaging data to analyze the condition further.
  • The research found that all 20 patients exhibited early childhood onset of distal weakness with varying severity, along with associated foot abnormalities and muscle changes, confirming the link between these genetic variants and a new syndrome characterized by primarily myogenic effects.
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Background: Charcot-Marie-Tooth (CMT) disease is a progressive inherited neurologic disorder causing muscle weakness and lower extremity deformity. The goal of foot and ankle surgical treatment is to create a stable, plantigrade foot, with the potential elimination of brace-wear for ambulation. The aim of this study was to report baseline CMT patient function and subsequent outcome improvement from surgical treatment, as determined by PROMIS physical function (PF), pain interference (PI), and mental health/depression (D) scores.

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This case report presents a novel cause of rigid flatfoot caused by the entrapment of the Flexor Hallucis Longus (FHL) tendon within the subtalar joint. A 19-year-old male with chronic right ankle and foot pain diagnosed with rigid flatfoot deformity. MRI identified the FHL tendon entrapped within the subtalar joint, a condition to our knowledge never previously reported.

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Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

Neurol Sci

December 2024

Department of Neurosciences, Reproductive and Odonstomatological Sciences, University Federico II, Via Sergio Pansini, Naples, 5 - 80131, Italy.

Background And Aims: Charcot-Marie-Tooth (CMT) is a heterogeneous group of genetic neuropathies and is typically characterized by distal muscle weakness, sensory loss, pes cavus and areflexia. Herein we describe a case of CMT2CC presenting with proximal muscle weakness and equivocal electrophysiological features, that was misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP).

Case Report: A 30-year-old woman complained of proximal muscle weakness with difficulty climbing stairs.

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The Gradual Correction of Rigid Pes Cavus Using Midfoot Osteotomy Combined with Ilizarov Methods.

Orthop Surg

September 2024

Department of Orthopedics, Orthopedic Research Institute, West China Hospital, Sichuan University, Chengdu, China.

Article Synopsis
  • The study examined midfoot osteotomy combined with Ilizarov methods as a treatment for severe rigid pes cavus, focusing on both clinical and radiological outcomes in 12 patients over a follow-up period of about 33 months.
  • Results showed that all patients achieved plantigrade feet, experienced pain relief, and reported significant improvements in functional scores, with a 100% bony union rate and minimal complications.
  • Key radiological measurements, such as the Meary angle and calcaneal varus angle, improved significantly post-surgery, indicating successful correction of foot alignment.
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Article Synopsis
  • * The study focused on 30 diplegic children aged 6 to 14, distinguishing between those with flat feet (pes-planus) and high arches (pes-cavus), using the GMFCS classification.
  • * Results showed a significant positive correlation between foot posture and multidirectional limits of stability, indicating that diplegic children with flat feet have better stability compared to those with high arches.
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Article Synopsis
  • Charcot-Marie-Tooth disease (CMT) can lead to a foot deformity in children called cavovarus, which is traditionally thought to occur due to the first metatarsal being positioned lower than the fifth, creating what is known as the tripod effect.* -
  • The study reviewed dynamic pedobarographic data from children with CMT to see if the first metatarsal always contacted the ground before the fifth metatarsal during walking, as previously suggested.* -
  • Results showed that in a significant number of cases, the first metatarsal did not consistently contact the ground before the fifth, suggesting that many feet were already positioned in a varus state before contact, indicating a need for
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Article Synopsis
  • The study explored the impact of excess weight on children's foot development by comparing arch morphology and flexibility among underweight, normal weight, and overweight groups.
  • A total of 1,532 children aged 7-11 participated, with measurements taken for height, weight, body mass index, and three-dimensional foot modeling under different conditions.
  • Results showed that overweight children had a higher arch index, but no significant differences in arch volume or flexibility compared to other groups, suggesting that being overweight may not directly affect foot structure or function in the short term.
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Ability of a multi-segment foot model to measure kinematic differences in cavus, neutrally aligned, asymptomatic planus, and symptomatic planus foot types.

Gait Posture

September 2024

VA RR&D Center for Limb Loss and MoBility (CLiMB), Seattle, WA, United States; Department of Mechanical Engineering, University of Washington, Seattle, WA, United States; Department of Orthopaedics & Sports Medicine, University of Washington, Seattle, WA, United States. Electronic address:

Article Synopsis
  • * Three independent raters analyzed subjects' foot movements over multiple days while employing a four-segment foot model and performed statistical analysis to evaluate variability and differences by foot type during the stance phase of gait.
  • * Findings indicated that while static measures showed significant differences among foot types, the MFM's ability to detect dynamic differences was limited, particularly with respect to certain movements like the hallux to forefoot range of motion; thus, its sensitivity for identifying variations between pathologic and non-pathologic foot
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Article Synopsis
  • Flexible cavovarus deformity is commonly assessed using the Coleman block test, which evaluates first ray malposition and hindfoot flexibility.
  • A study compared weightbearing computed tomography (WBCT) measurements between 20 patients with flexible cavovarus and 20 control participants, focusing on the impact of the Coleman block test on foot and ankle alignment.
  • Results showed significant corrections in certain angles during the Coleman block test, but some measurements in cavovarus patients remained significantly different from normal controls, indicating residual deformity despite testing.
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Clubfoot: Congenital Talipes Equinovarus.

Radiographics

July 2024

From the Division of Musculoskeletal Radiology, Department of Diagnostic Imaging (A.d.A.e.C., J.B.P., L.K.M., M.C.A., T.L.M., V.N.S., A.Y.A.), and Discipline of Pediatric Orthopedics, Department of Orthopedics and Traumatology (U.P.R., J.A.P.), Napoleão de Barros St, 800-Vila Clementino, Universidade Federal de São Paulo-Escola Paulista de Medicina, São Paulo, SP, Brazil 04024-002; Hospital Israelita Albert Einstein, São Paulo, Brazil (A.d.A.e.C.); Department of Diagnostic Imaging, DASA/Laboratório Delboni Auriemo, São Paulo, SP, Brazil (T.L.M., V.N.S., A.Y.A.); Department of Radiology, Hospital do Coração (HCor) and Teleimagem, São Paulo, SP, Brazil (V.N.S.); and Department of Radiology, University of Texas Southwestern Medical Center, Dallas, TX (A.K.T.).

Article Synopsis
  • * Various imaging techniques, including radiography, ultrasound (US), and MRI, play crucial roles in diagnosing and monitoring the condition, each having distinct advantages in assessing the bones and soft tissues.
  • * The Ponseti method, involving manipulation and serial casting, is the standard treatment for CTEV, and combining clinical assessments with imaging results is vital for effective management.
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Background: Multi-segment foot models have been used to quantify foot kinematics during walking. However, walking kinematics is not sufficient to assess hindfoot flexibility (available range of hindfoot varus-valgus motion). The modified Shriners Hospitals for Children - Greenville (mSHCG) foot model has been used to quantify hindfoot flexibility with Coleman block test (peak hindfoot valgus) and Root test (peak hindfoot varus).

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Childhood fever and hearing loss associated with CAPOS syndrome.

Auris Nasus Larynx

August 2024

Department of Otorhinolaryngology - Head and Neck Surgery, Iwate Medical University, 2-1-1, Nishitokuda, Yahaba-cho, Shiwa-gun, Iwate 238-3694, Japan.

Article Synopsis
  • CAPOS syndrome is a rare genetic disorder linked to a specific mutation in the ATP1A3 gene, characterized by symptoms like cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.
  • The case describes a patient who experienced recurring fevers leading to hearing difficulties around age 74 months, marking a decline in his previously acquired speech.
  • Genetic testing confirmed the ATP1A3 mutation, and the study found that the different responses in auditory tests (ABR and ASSR) were due to the mutation causing desynchronization in neural firing.
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Pes planus, commonly referred to as flatfoot, is a congenital foot deformity characterized by the descent of the medial longitudinal arch, resulting in reduced spring action and increased stress on the foot during ambulation. This condition, opposite to pes cavus, typically lacks symptomatic presentation despite its structural abnormality. This case report discusses a 20-year-old female presenting to the musculoskeletal department of physiotherapy with impaired gait attributed to developmental flatfeet and an underdeveloped heel on one foot since birth.

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Congenital deformities of the foot significantly challenge the mobility and quality of life of affected individuals. While surgical interventions are common, rehabilitation protocols tailored to address the specific needs of adults with congenital foot deformities are less explored. This case series aims to evaluate the effectiveness of a specialized foot rehabilitation protocol in improving functional outcomes and quality of life in adults with congenital foot deformities.

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