( "Charcot Marie Tooth Disease" )

Efficient data labeling strategies for automated muscle segmentation in lower leg MRIs of Charcot-Marie-Tooth disease patients. We aimed to develop efficient data labeling strategies for ground truth segmentation in lower-leg magnetic resonance imaging (MRI) of patients with Charcot-Marie-Tooth disease (CMT) and to develop an automated muscle segmentation model using different labeling approaches

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD. Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the disease remain to be defined. Notably, a multicenter phase 2/3 study to test

Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease - Symptoms, diagnosis and treatment | BMJ Best PracticeSkip to main contentSkip to search * About us * Help * Subscribe * Access through your institution * Log inBMJ Best Practice * Help * Getting started * FAQs * Contact us * Recent updates * Specialties * Calculators * Patient leaflets * Videos * Evidence * Drugs * Recent has an unpaid position on the Charcot Marie Tooth Association Advisory Board and is part of the Charcot Marie Tooth Disease Gene Curation Expert Panel for ClinGen. CES is a volunteer member of the Pediatric Best Practices for Charcot Marie Tooth disease panel. CES has received institutional funding from an Inherited Neuropathies Consortium research grant, funded by the Muscular Dystrophy Association

Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A. Quantitative muscle fat fraction (FF) responsiveness is lower in younger Charcot-Marie-Tooth disease type 1A (CMT1A) patients with lower baseline calf-level FF. We investigated the practicality, validity, and responsiveness of foot-level

Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease. Germline truncating variants in the gene (encoding dystrophin-related protein 2) cause the disruption of the periaxin-DRP2-dystroglycan complex and have been linked to Charcot-Marie-Tooth disease. However, the causality and the underlying phenotype of the genetic alterations are not clearly defined. This cross -sectional retrospective observational study includes 9 patients with Charcot-Marie-Tooth disease (CMT) with germline variants evaluated at 6 centers throughout Spain. We identified 7 Spanish families with 4 different likely pathogenic germline variants. In agreement with an X-linked inheritance, men harboring hemizygous variants presented with an intermediate form of CMT, whereas heterozygous women

Home-based multi-sensory and proximal strengthening program to improve balance in Charcot-Marie-Tooth disease Type 1A: A proof of concept study. People with Charcot-Marie-Tooth Disease (CMT) frequently report problems with balance, which lead to an increased risk of falls. Evidence is emerging of training interventions to improve balance for people with CMT, but to date all have relied on clinic

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically heterogeneous inherited neurological diseases, with more than 130 disease-causing genes. Whole genome sequencing (WGS) has improved diagnosis across genetic diseases, but the diagnostic impact in CMT is yet to be fully reported. We

Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease. DNA-based therapeutics have emerged as a revolutionary approach for addressing the treatment gap in rare inherited conditions by targeting the fundamental genetic causes of disease. Charcot-Marie-Tooth (CMT) disease, a group of inherited neuropathies, represents one of the most prevalent

Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.

Outcomes of Charcot-Marie-Tooth Disease Cavovarus Surgical Reconstruction. 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

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

Clinical Outcome Assessments and Biomarkers in Charcot-Marie-Tooth Disease. Charcot-Marie-Tooth disease (CMT) encompasses a diverse group of genetic forms of inherited peripheral neuropathy and stands as the most common hereditary neurologic disease worldwide. At present, no disease-modifying treatments exist for any form of CMT. However, promising therapeutic strategies are rapidly emerging

Charcot-Marie-Tooth disease testing ManualsLibraryEducationFoundation My CPDPMy Quick Links My RCPA Advanced SearchHomeEventsNews & MediaPathology CareersPathology UpdateAboutContact UsManuals RCPA Manual Pathology Tests C Charcot-Marie-Tooth disease testingCHARCOT-MARIE-TOOTH DISEASE TESTINGSPECIMEN: 5-10 ml blood in EDTA tube.METHOD: 1. MLPA (multiplex ligase-dependant probe amplification

A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review. Charcot-Marie-Tooth disease 2C (CMT2C) and scapuloperoneal spinal muscular atrophy (SPSMA) are different clinical phenotypes of TRPV4 mutation. The mutation of p.R316C has been reported loss of myelinated nerve fibers with scattered regenerating clusters and pseudo-onion bulbs. Nerve conduction study showed axon damage in both motor and sensory nerves. Sensory nerve action potentials could not be evoked in bilateral sural or superficial peroneal nerves. He was diagnosed with Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome, whereas his 27

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1. Copy number variation (CNV) may lead to pathological traits, and Charcot-Marie-Tooth disease type 1A (CMT1A), the commonest inherited peripheral neuropathy, is due to a genomic duplication encompassing the dosage-sensitive PMP22 gene. MicroRNAs act as repressors on post-transcriptional regulation

Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease. The study aim was to evaluate the impact of body mass index (BMI) on disease progression over 2-years in children with Charcot-Marie-Tooth disease (CMT). : BMI was classified in 242 participants 3-20 years with CMT enrolled in the Inherited Neuropathy Consortium, using the International Obesity

Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease. Shoe inserts, orthopaedic shoes, ankle-foot orthoses (AFOs) are important devices in Charcot-Marie-Tooth disease (CMT) management, but data about use, benefits and tolerance are scanty. We administered to Italian CMT Registry patients an online ad hoc questionnaire investigating use, complications

Patient Reported Outcomes Using Medical Cannabis for Managing Pain in Charcot-Marie-Tooth Disease. Chronic pain is a major problem for patients with Charcot-Marie-Tooth (CMT) disease. This exploratory study examined patient reported efficacy of medical cannabis for pain management in this population. Participants (N = 56; 71.4% female; Age = 48.9, SD = 14.6; 48.5% CMT1) were recruited though

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. DExD/H-box RNA helicases (DDX/DHX) are encoded by a large paralogous gene family; in a subset of these human helicase genes, pathogenic variation causes neurodevelopmental disorder (NDD) traits and cancer. DHX9 encodes a BRCA1-interacting nuclear from NDDs to the distal symmetric polyneuropathy axonal Charcot-Marie-Tooth disease (CMT2). Quantitative Human Phenotype Ontology (HPO) analysis demonstrated genotype-phenotype correlations with LoF variants causing mild NDD phenotypes and nuclear localization signal (NLS) missense variants causing severe NDD. We investigated DHX9 variant-associated cellular phenotypes in human cell lines. Whereas

Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease. Mutations in MPZ (Myelin Protein Zero) can cause demyelinating early-onset Charcot-Marie-Tooth Type1B disease or later onset Type2I/J disease characterized by axonal degeneration, reflecting the diverse roles of MPZ in Schwann cells. MPZ holds apposing membranes of the myelin sheath together interface that has yet to be identified. We next correlated different types of Charcot-Marie-Tooth disease symptoms to subregions within IgMPZ tetramers. Variants causing axonal late-onset disease (CMT2I/J) map to surface residues of IgMPZ proximal to the transmembrane domain. Variants causing early-onset demyelinating disease (CMT1B) segregate into two groups: one is described by variants that disrupt