A Doença de Charcot-Marie-Tooth tipo 1A (CMT1A) é um tipo de doença neurológica hereditária que afeta os nervos periféricos (aqueles que estão fora do cérebro e da medula espinhal). Quem tem essa condição costuma apresentar fraqueza e perda de massa muscular (atrofia) nas pernas, começando na adolescência; depois, também pode sentir fraqueza nas mãos e perda de sensibilidade. A CMT1A é causada por uma cópia extra (uma duplicação) do gene PMP22. Ela é transmitida de forma autossômica dominante, o que significa que basta herdar uma cópia do gene alterado de um dos pais para desenvolver a doença. O tratamento pode incluir fisioterapia, terapia ocupacional, órteses (aparelhos de suporte) e outros dispositivos ortopédicos, cirurgias ortopédicas e medicamentos para dor.
Introdução
O que você precisa saber de cara
A Doença de Charcot-Marie-Tooth tipo 1A (CMT1A) é um tipo de doença neurológica hereditária que afeta os nervos periféricos (aqueles que estão fora do cérebro e da medula espinhal). Quem tem essa condição costuma apresentar fraqueza e perda de massa muscular (atrofia) nas pernas, começando na adolescência; depois, também pode sentir fraqueza nas mãos e perda de sensibilidade. A CMT1A é causada por uma cópia extra (uma duplicação) do gene PMP22. Ela é transmitida de forma autossômica dominante, o que significa que basta herdar uma cópia do gene alterado de um dos pais para desenvolver a doença. O tratamento pode incluir fisioterapia, terapia ocupacional, órteses (aparelhos de suporte) e outros dispositivos ortopédicos, cirurgias ortopédicas e medicamentos para dor.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 25 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 41 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Seems to be involved in pore-forming activity and may contribute to the unspecific permeability of the peroxisomal membrane
Peroxisome membrane
Variantes genéticas (ClinVar)
292 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 36,576 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença de Charcot-Marie-Tooth tipo 1A
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Outros ensaios clínicos
27 ensaios clínicos encontrados, 10 ativos.
Publicações mais relevantes
Gait Parameters Alterations Under Dual-Task Conditions in Patients With Acquired and Hereditary Peripheral Neuropathies.
Peripheral demyelinating neuropathies impair gait and increase fall risk, particularly under cognitively demanding conditions. While gait disturbances in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and Charcot-Marie-Tooth disease type 1A (CMT1A) are well documented, their differential responses to cognitive dual-tasking remain poorly understood. In this prospective study, 62 patients (31 CIDP, 31 CMT1A) performed 10-m barefoot walking trials under three conditions: natural walking, low dual-task (answering factual questions), and high dual-task (introspective questions about illness impact). Gait parameters, including speed, stride length, stride time, foot and heel clearance, were measured using a motion capture system. Group, condition, and interaction effects were analyzed using linear mixed-effects models. Both groups showed significant reductions in gait speed and stride length under dual-task conditions. Compared to CMT1A, CIDP patients exhibited more pronounced slowing and increased stride time, especially during high dual-tasking. Heel clearance decreased significantly in CIDP, with a group × condition interaction, while CMT1A patients maintained more stable gait patterns. Foot clearance at peak swing declined in both groups without intergroup differences. These results suggest that CIDP patients adopt a more cautious gait under cognitive load, reflecting reduced automatism and adaptability. In contrast, CMT1A patients appear to benefit from long-term compensatory strategies developed over the disease course. Moreover, the CIDP patients decreased their heel clearance during dual-task, increasing the fall risk. Dual-task gait analysis reveals distinct adaptations in hereditary and acquired neuropathies. Parameters such as heel clearance and stride time may serve as functional markers to guide diagnosis and rehabilitation.
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.
Copy number variants (CNVs) are key drivers of human diversity and disease risk1. Here we evaluate the role of CNVs across a broad range of human phenotypes and diseases by analysing CNVs from 470,727 UK Biobank whole-genome sequences and conducting a variant- and gene-level phenome-wide association study (PheWAS) with 2,941 plasma protein abundance measurements, 13,336 binary clinical phenotypes and 1,911 quantitative traits. Proteomic analyses validated functional associations of CNVs with nearby genes (cis-protein quantitative trait loci; cis-pQTLs)-with deletions and duplications typically associated with reduced and increased protein levels, respectively-and uncovered previously unknown protein-protein interactions (trans-pQTLs). Our PheWAS recapitulated known associations and uncovered associations in both coding and non-coding regions. Notably, we identified a rare deletion in ZNF451 associated with increased leukocyte telomere length and a non-coding deletion of a SLC2A9 enhancer associated with reduced gout risk. In addition, by combining CNVs with protein-coding single nucleotide variants and indels, we enhanced the power of our study to detect gene-disease associations. Finally, we leveraged this multiomics dataset to identify several pQTLs that constitute candidate biomarkers, including TMPRSS5 for Charcot-Marie-Tooth disease type 1A. This multiancestry whole-genome-sequence CNV PheWAS offers insights into the roles of CNVs in human health outcomes and could serve as a valuable resource for therapeutic development.
Concurrent FHL1-Related Myopathy and CMT1A Unveiled by Persistent Neuropathic Feature.
This case report describes a patient with X-linked FHL1-related myofibrillar myopathy and Charcot-Marie-Tooth disease type 1A, a dual pathology revealed by imaging and genetic testing.
Multiple Sclerosis in Charcot-Marie-Tooth Disease Type 1A - A Case Report and Literature Review.
Central nervous system (CNS) demyelination is an uncommon observation in patients with Charcot-Marie-Tooth disease (CMT). Where it does occur, it is usually associated with X-linked CMT. We present a case of CMT type 1A with a likely de novo mutation who experienced initial symptoms, and subsequent exacerbation, of multiple sclerosis following respiratory infection. A review of the literature reveals that reports of CMT1A with CNS demyelination are rare. We propose that the mutations in the PMP22 gene result in an over-expression of PMP22 mRNA, which overcomes the normal suppression by miRNA species that occurs in the CNS. This abnormal expression of PMP22 protein may, in certain circumstances, exacerbate autoimmune responses to result eventually in CNS demyelination.
Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.
Charcot-Marie-Tooth Disease Type 1A (CMT1A) and Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) are the most common inherited peripheral neuropathies and arise from copy number variation of the Peripheral Myelin Protein 22 (PMP22) gene. While secondary axon degeneration has been proposed as the primary driver of disability, our prior work demonstrated pronounced neuromuscular impairment in CMT1A model mice in the absence of overt axonal loss, prompting investigation into primary myelin dysfunction. Here, we reveal that altered PMP22 dosage profoundly disrupts molecular architecture at critical myelin domains, Schmidt-Lanterman incisures (SLIs) and Nodes of Ranvier. Using high-resolution confocal imaging of teased peripheral nerve fibers from CMT1A and HNPP model mice, we identified widespread disorganization of adherens junctions, mislocalization of Connexin29 and aberrant distribution of nodal ion channels, with several defects more severe in CMT1A, consistent with disease burden. Notably, nodal widening and abnormal spreading of Kv1.2 and Caspr along internodes indicate compromised axo-glial compartmentalization essential for saltatory conduction. Together, these findings support a model in which PMP22 functions as a structural organizer of myelin, coordinating adherens junction patterning and nodal subdomain integrity. Dysregulation of this function is predicted to compromise Schwann-cell architecture, metabolic support and axonal excitability. Our findings support a paradigm shift in which molecular destabilization of myelin, rather than secondary axonal degeneration alone, contributes to disease progression in CMT1A and HNPP. This work also identifies junctional complexes as potential actionable molecular targets and establishes a mechanistic framework applicable to a broad spectrum of inherited dysmyelinating and acquired demyelinating neuropathies.
Publicações recentes
Gait Parameters Alterations Under Dual-Task Conditions in Patients With Acquired and Hereditary Peripheral Neuropathies.
Multiple Sclerosis in Charcot-Marie-Tooth Disease Type 1A - A Case Report and Literature Review.
An open-label single-arm phase 1/2a study to evaluate the safety and exploratory efficacy of a VM202 in patients with Charcot-Marie-Tooth disease 1A.
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.
Hypertrophy of great auricular nerve in Charcot-Marie-Tooth disease type 1A.
📚 EuropePMC225 artigos no totalmostrando 130
Gait Parameters Alterations Under Dual-Task Conditions in Patients With Acquired and Hereditary Peripheral Neuropathies.
European journal of neurologyMultiple Sclerosis in Charcot-Marie-Tooth Disease Type 1A - A Case Report and Literature Review.
Journal of central nervous system diseasePhenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.
NatureHypertrophy of great auricular nerve in Charcot-Marie-Tooth disease type 1A.
Medicina clinicaAberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.
GliaCharacterising PMP22-Proximal Partners in a Schwann Cell Model of Charcot-Marie-Tooth Disease Type1A.
BiologySearch for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies.
Neurology. GeneticsA systematic review of CRISPR applications in demyelinating peripheral nervous system disorders.
Regenerative medicineGuillain-Barré Syndrome With Asymmetrical Weakness in a Patient With Charcot-Marie-Tooth Disease Type 1A.
CureusThe Easy Handgrip Test as a Tool for Assessing Motor Fatigability in Children With Charcot-Marie-Tooth Disease Type 1A.
Journal of the peripheral nervous system : JPNSConcurrent FHL1-Related Myopathy and CMT1A Unveiled by Persistent Neuropathic Feature.
JAMA neurologyEffectiveness of Sitagliptin and Empagliflozin Combination Therapy in a Patient With Charcot-Marie-Tooth Disease and Comorbid Diabetes Mellitus: A Case Report.
Cureus[Precise preimplantation genetic testing for a Chinese pedigree carrying a small segmental copy number variation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsUntargeted lipidomic deep-profiling of human plasma via high-performance aza-Prilezhaev aziridination-LC-MS: Unraveling CC isomeric signatures of Charcot-Marie-Tooth disease.
Analytica chimica actaClinical and genetic characteristics associated with dual-positive gene variations.
Frontiers in neuroscienceEstablishment of an In Vitro Disease Model of Charcot-Marie-Tooth Disease using Human Induced Pluripotent Stem Cells.
Juntendo medical journalNerve Diameter and DTI Parameters Maybe Potential Markers for Clinical Trial in Patients With Charcot-Marie-Tooth Disease Type 1A.
European journal of neurologyDynamic regulation of Rgs16 and its correlation with Neuregulin1 expression in acute and chronic nerve injury.
Frontiers in cell and developmental biologyNonrecurrent 17p duplications in two patients with developmental and neurological abnormalities.
Human genome variationGuillain-Barré syndrome in patients with Charcot-Marie-Tooth type 1A disease, probably a non-random association.
Neurophysiologie clinique = Clinical neurophysiologyA case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome.
Frontiers in endocrinologyPhosphodiesterase 4D inhibition improves the functional and molecular outcome in a mouse and human model of Charcot Marie Tooth disease 1 A.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieNeurogenic disease with high CK: think muscle.
Practical neurologySynergistic effect of Wharton's jelly-derived mesenchymal stem cells and insulin on Schwann cell proliferation in Charcot-Marie-Tooth disease type 1A treatment.
Neurobiology of diseaseThe recovery cycle of excitability assessed by a conventional electrodiagnostic machine: A study in healthy volunteers and in Charcot-Marie-Tooth 1A patients.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyUnveiling a Rare Coexistence: Duchenne Muscular Dystrophy with Charcot-Marie-Tooth Disease Type 1A Presentation.
Annals of Indian Academy of Neurologyp62/sequestosome-1 as a severity-reflecting plasma biomarker in Charcot-Marie-Tooth disease type 1A.
Scientific reportsPMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells.
Brain : a journal of neurologyQuantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.
Annals of neurologyA study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.
Journal of the peripheral nervous system : JPNS[Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsImprovement of Charcot-Marie-Tooth Phenotype with a Nanocomplex Treatment in Two Transgenic Models of CMT1A.
Biomaterials researchGeneration of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication.
Stem cell researchTesting SIPA1L2 as a modifier of CMT1A using mouse models.
Journal of neuropathology and experimental neurologyIntermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.
European journal of neurologyTargeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases.
EMBO molecular medicineMulticenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure.
NeurologyHome-based multi-sensory and proximal strengthening program to improve balance in Charcot-Marie-Tooth disease Type 1A: A proof of concept study.
Muscle & nervePreclinical Efficacy of Peripheral Nerve Regeneration by Schwann Cell-like Cells Differentiated from Human Tonsil-Derived Mesenchymal Stem Cells in C22 Mice.
BiomedicinesAAV-mediated editing of PMP22 rescues Charcot-Marie-Tooth disease type 1A features in patient-derived iPS Schwann cells.
Communications medicineGait Pattern in Charcot-Marie-Tooth Disease Type 1A According to Disease Severity.
Journal of personalized medicineEvaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A.
Medical ultrasonographyPost-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
Brain : a journal of neurologyDisease-specific wearable sensor algorithms for profiling activity, gait, and balance in individuals with Charcot-Marie-Tooth disease type 1A.
Journal of the peripheral nervous system : JPNSTGFβ4 alleviates the phenotype of Charcot-Marie-Tooth disease type 1A.
Brain : a journal of neurologyMechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease.
Neural regeneration researchThe systemic inhibition of the terminal complement system reduces neuroinflammation but does not improve motor function in mouse models of CMT1A with overexpressed PMP22.
Current research in neurobiologyYoung infants with PMP22 duplication can have minor nerve conduction study abnormalities.
Neurophysiologie clinique = Clinical neurophysiologyMagnetic resonance imaging-based lower limb muscle evaluation in Charcot-Marie-Tooth disease type 1A patients and its correlation with clinical data.
Scientific reportsEvidence of nerve hypertrophy in patients with inclusion body myositis on lower limb MRI.
Muscle & nervePatient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.
Journal of clinical neuromuscular diseasePeripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.
GenesA translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice.
The Journal of clinical investigationTreatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice.
Molecular neurobiologyDosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies.
Neuromuscular disorders : NMDNerve Ultrasound Findings before and after Surgery in a Patient with Charcot-Marie-Tooth Disease Type 1A and Comorbid Carpal Tunnel Syndrome.
Case reports in neurologyPhysical and Mental Aspects of Quality of Life in Patients With Charcot-Marie-Tooth Disease Type 1A.
Frontiers in neurologySARM1 knockout does not rescue neuromuscular phenotypes in a Charcot-Marie-Tooth disease Type 1A mouse model.
Journal of the peripheral nervous system : JPNSFarnesol Ameliorates Demyelinating Phenotype in a Cellular and Animal Model of Charcot-Marie-Tooth Disease Type 1A.
Current issues in molecular biologyIntraepineurial fat quantification and cross-sectional area analysis of the sciatic nerve using MRI in Charcot-Marie-Tooth disease type 1A patients.
Scientific reportsA double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.
Orphanet journal of rare diseasesCardiopulmonary exercise performance and factors associated with aerobic capacity in neuromuscular diseases.
Muscle & nerveQuantitative assessment of muscle echogenicity in Charcot-Marie-Tooth disease type 1A by automatic thresholding methods.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyPrevalence and characterization of pain in patients with Charcot-Marie-Tooth disease type 1A.
Arquivos de neuro-psiquiatriaMicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A.
NeurologyHigh-density surface electromyography to assess motor unit firing rate in Charcot-Marie-Tooth disease type 1A patients.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyA novel histone deacetylase 6 inhibitor improves myelination of Schwann cells in a model of Charcot-Marie-Tooth disease type 1A.
British journal of pharmacologyAquaporin-4-antibody-positive Neuromyelitis Optica Spectrum Disorder in a Patient with Charcot-Marie-Tooth Disease Type 1A.
Internal medicine (Tokyo, Japan)Short hairpin RNA treatment improves gait in a mouse model of Charcot‑Marie‑Tooth disease type 1A.
Molecular medicine reportsCentral nervous system impairment detected by somatosensory evoked potentials in patients with Charcot-Marie-Tooth disease type 1A.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaCharcot-Marie-Tooth disease type 1A: Longitudinal change in nerve ultrasound parameters.
Muscle & nerveDiffuse brain connectivity changes in Charcot-Marie-Tooth type 1a patients: a resting-state functional magnetic resonance imaging study.
European journal of neurologyIntraepidermal nerve fibre density as biomarker in Charcot-Marie-Tooth disease type 1A.
Brain communicationsRate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients.
Frontiers in neurologyPaternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.
Molecular genetics & genomic medicineVagus Nerve Ultrasound in Chronic Inflammatory Demyelinating Polyradiculoneuropathy and Charcot-Marie-Tooth Disease Type 1A.
Journal of neuroimaging : official journal of the American Society of NeuroimagingSynergistic PXT3003 therapy uncouples neuromuscular function from dysmyelination in male Charcot-Marie-Tooth disease type 1A (CMT1A) rats.
Journal of neuroscience researchElectrodiagnostic accuracy in polyneuropathies: supervised learning algorithms as a tool for practitioners.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologySubcellular diversion of cholesterol by gain- and loss-of-function mutations in PMP22.
GliaPmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.
Human molecular geneticsHigh glucose level as a modifier factor in CMT1A patients.
Journal of the peripheral nervous system : JPNS[Research advance of underlying pathogenesis and target therapies in Charcot-Marie-Tooth disease type 1A].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsQuality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot-Marie-Tooth disease type 1A.
Acta neurologica BelgicaMultidimensional evaluation is necessary to assess hand function in patients with Charcot-Marie-Tooth disease type 1A.
Annals of physical and rehabilitation medicineA longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
NeurologyNeuropathic pain in patients with Charcot-Marie-Tooth type 1A.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyTargeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice.
Nucleic acids researchSerum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy.
Scientific reportsFoot Function Index: A Promising Questionnaire for Individuals With Charcot-Marie-Tooth Disease Type 1A.
Archives of physical medicine and rehabilitationmiR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22.
Experimental neurobiologyModifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.
Journal of neuromuscular diseasesCommunity exercise is feasible for neuromuscular diseases and can improve aerobic capacity.
NeurologyGenetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyVariation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Annals of neurologyReplication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population.
Neuromuscular disorders : NMDReplication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population - response.
Neuromuscular disorders : NMDReversible conduction failure on the deep tendon reflex response recording in early Guillain-Barré syndrome.
Clinical neurophysiology practiceFontan Failure Secondary to Charcot-Marie-Tooth-Induced Phrenic Neuropathy.
Texas Heart Institute journalWalking Speed Is Correlated With the Isokinetic Muscular Strength of the Knee in Patients With Charcot-Marie-Tooth Type 1A.
American journal of physical medicine & rehabilitationValidation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A.
NeurologyDifferentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A.
International journal of molecular sciencesHidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A.
Scientific reportsAssociation of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A.
Neuromuscular disorders : NMDDejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.
Brain and behaviorSkin Biopsy Findings in Patients With CMT1A: Baseline Data From the CLN-PXT3003-01 Study Provide New Insights Into the Pathophysiology of the Disorder.
Journal of neuropathology and experimental neurologyModeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs.
Stem cell reportsElevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients.
The American journal of pathologyPMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models.
The Journal of clinical investigationAntisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A.
The Journal of clinical investigationEstablished and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2.
Journal of the peripheral nervous system : JPNSCharcot-Marie-Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot-Marie-Tooth Examination Score.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyBiomarkers predict outcome in Charcot-Marie-Tooth disease 1A.
Journal of neurology, neurosurgery, and psychiatryCaveats in the Established Understanding of CMT1A.
Annals of clinical and translational neurologyApplication of differentiated human tonsil-derived stem cells to trembler-J mice.
Muscle & nerveUnusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy.
Journal of pediatric geneticsHand involvement in Charcot-Marie-Tooth disease type 1A may resemble rheumatoid arthritis.
Turkish journal of physical medicine and rehabilitationA case report of hereditary neuropathy with liability to pressure palsies accompanied by type 2 diabetes mellitus and psoriasis.
MedicineCharcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.
Muscle & nerveA Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients.
PloS oneHandwriting difficulties of children with Charcot-Marie-Tooth disease type 1A.
Journal of the peripheral nervous system : JPNSAbl2 kinase phosphorylates Bi-organellar regulator MNRR1 in mitochondria, stimulating respiration.
Biochimica et biophysica acta. Molecular cell researchA New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening.
Journal of genetics and genomics = Yi chuan xue baoCoexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family.
Neural regeneration researchNonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
American journal of human genetics[Ascorbic Acid and Charcot-Marie-Tooth Disease].
Brain and nerve = Shinkei kenkyu no shinpoCoexistence of Charcot Marie Tooth disease type 1A and diabetes in Taiwan: A clinicopathological study.
Journal of the neurological sciencesSpinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.
Neuromuscular disorders : NMDRespiratory dysfunction in Charcot-Marie-Tooth disease type 1A.
Journal of neurologyInducible HSP70 is critical in preventing the aggregation and enhancing the processing of PMP22.
ASN neuroPeripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Gait Parameters Alterations Under Dual-Task Conditions in Patients With Acquired and Hereditary Peripheral Neuropathies.
- Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.
- Concurrent FHL1-Related Myopathy and CMT1A Unveiled by Persistent Neuropathic Feature.
- Multiple Sclerosis in Charcot-Marie-Tooth Disease Type 1A - A Case Report and Literature Review.
- Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.
- An open-label single-arm phase 1/2a study to evaluate the safety and exploratory efficacy of a VM202 in patients with Charcot-Marie-Tooth disease 1A.
- Hypertrophy of great auricular nerve in Charcot-Marie-Tooth disease type 1A.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:101081(Orphanet)
- OMIM OMIM:118220(OMIM)
- MONDO:0007309(MONDO)
- GARD:1245(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q9190339(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
