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Doença de Charcot-Marie-Tooth tipo 1A
ORPHA:101081CID-10 · G60.0CID-11 · LD41.G1OMIM 118220DOENÇA RARA

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.

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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.

Pesquisas ativas
10 ensaios
27 total registrados no ClinicalTrials.gov
Publicações científicas
435 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
82.37
Norway
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G60.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Entender a doença

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

💪
Músculos
8 sintomas
🧠
Neurológico
5 sintomas
🦴
Ossos e articulações
2 sintomas
👂
Ouvidos
1 sintomas

+ 25 sintomas em outras categorias

Características mais comuns

55%prev.
Hiporreflexia
Frequente (79-30%)
55%prev.
Velocidade de condução nervosa sensorial diminuída
Frequente (79-30%)
55%prev.
Neuropatia periférica desmielinizante
Frequente (79-30%)
55%prev.
Fraqueza muscular proximal
Frequente (79-30%)
55%prev.
Distúrbio da marcha
Frequente (79-30%)
55%prev.
Velocidade de condução nervosa motora diminuída
Frequente (79-30%)
41sintomas
Frequente (11)
Ocasional (8)
Muito raro (1)
Sem dados (21)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 41 características clínicas mais associadas, ordenadas por frequência.

HiporreflexiaHyporeflexia
Frequente (79-30%)55%
Velocidade de condução nervosa sensorial diminuídaDecreased sensory nerve conduction velocity
Frequente (79-30%)55%
Neuropatia periférica desmielinizanteDemyelinating peripheral neuropathy
Frequente (79-30%)55%
Fraqueza muscular proximalProximal muscle weakness
Frequente (79-30%)55%
Distúrbio da marchaGait disturbance
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico435PubMed
Últimos 10 anos132publicações
Pico202017 papers
Linha do tempo
2026Hoje · 2026🧪 2006Primeiro ensaio clínico📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

PMP22Peroxisomal membrane protein 2Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Seems to be involved in pore-forming activity and may contribute to the unspecific permeability of the peroxisomal membrane

LOCALIZAÇÃO

Peroxisome membrane

VIAS BIOLÓGICAS (1)
EGR2 and SOX10-mediated initiation of Schwann cell myelination
EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
3229.9 TPM
Tecido adiposo
421.5 TPM
Cervix Ectocervix
415.8 TPM
Fallopian Tube
379.8 TPM
Cervix Endocervix
354.6 TPM
OUTRAS DOENÇAS (7)
Roussy-Levy syndromeCharcot-Marie-Tooth disease type 3hereditary neuropathy with liability to pressure palsiesCharcot-Marie-Tooth disease type 1E
HGNC:9118UniProt:Q9NR77

Variantes genéticas (ClinVar)

292 variantes patogênicas registradas no ClinVar.

🧬 PMP22: GRCh38/hg38 17p12(chr17:14174654-15579519)x1 ()
🧬 PMP22: GRCh38/hg38 17p12(chr17:14170219-15510549)x3 ()
🧬 PMP22: GRCh38/hg38 17p12(chr17:14184601-15581021)x1 ()
🧬 PMP22: GRCh38/hg38 17p12(chr17:14174654-15536883)x3 ()
🧬 PMP22: GRCh38/hg38 17p12(chr17:14191318-15520772)x3 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 36,576 variantes classificadas pelo ClinVar.

10973
25603
VUS (30.0%)
Benigna (70.0%)
VARIANTES MAIS SIGNIFICATIVAS
ITPR3: NM_002224.4(ITPR3):c.404T>C (p.Val135Ala) [Uncertain significance]
MORC2: NM_001303256.3(MORC2):c.2129del (p.Pro710fs) [Uncertain significance]
LMNA: NM_170707.4(LMNA):c.1528A>G (p.Thr510Ala) [Uncertain significance]
GARS1: NM_002047.4(GARS1):c.347A>G (p.Asp116Gly) [Uncertain significance]
AARS1: NM_001605.3(AARS1):c.533T>C (p.Met178Thr) [Uncertain significance]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 34
2Fase 22
1Fase 12
·Pré-clínico12
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

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

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

🟢 Recrutando agora

6 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

27 ensaios clínicos encontrados, 10 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
133 papers (10 anos)
#1

Gait Parameters Alterations Under Dual-Task Conditions in Patients With Acquired and Hereditary Peripheral Neuropathies.

European journal of neurology2026 Mar

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.

#2

Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.

Nature2026 Feb 04

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.

#3

Concurrent FHL1-Related Myopathy and CMT1A Unveiled by Persistent Neuropathic Feature.

JAMA neurology2026 Feb 01

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.

#4

Multiple Sclerosis in Charcot-Marie-Tooth Disease Type 1A - A Case Report and Literature Review.

Journal of central nervous system disease2026

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.

#5

Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.

Glia2026 Feb

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

Ver todas no PubMed

📚 EuropePMC225 artigos no totalmostrando 130

2026

Gait Parameters Alterations Under Dual-Task Conditions in Patients With Acquired and Hereditary Peripheral Neuropathies.

European journal of neurology
2026

Multiple Sclerosis in Charcot-Marie-Tooth Disease Type 1A - A Case Report and Literature Review.

Journal of central nervous system disease
2026

Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.

Nature
2026

Hypertrophy of great auricular nerve in Charcot-Marie-Tooth disease type 1A.

Medicina clinica
2026

Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.

Glia
2025

Characterising PMP22-Proximal Partners in a Schwann Cell Model of Charcot-Marie-Tooth Disease Type1A.

Biology
2025

Search for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies.

Neurology. Genetics
2025

A systematic review of CRISPR applications in demyelinating peripheral nervous system disorders.

Regenerative medicine
2025

Guillain-Barré Syndrome With Asymmetrical Weakness in a Patient With Charcot-Marie-Tooth Disease Type 1A.

Cureus
2025

The 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 : JPNS
2026

Concurrent FHL1-Related Myopathy and CMT1A Unveiled by Persistent Neuropathic Feature.

JAMA neurology
2025

Effectiveness of Sitagliptin and Empagliflozin Combination Therapy in a Patient With Charcot-Marie-Tooth Disease and Comorbid Diabetes Mellitus: A Case Report.

Cureus
2025

[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 genetics
2025

Untargeted 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 acta
2025

Clinical and genetic characteristics associated with dual-positive gene variations.

Frontiers in neuroscience
2025

Establishment of an In Vitro Disease Model of Charcot-Marie-Tooth Disease using Human Induced Pluripotent Stem Cells.

Juntendo medical journal
2025

Nerve Diameter and DTI Parameters Maybe Potential Markers for Clinical Trial in Patients With Charcot-Marie-Tooth Disease Type 1A.

European journal of neurology
2025

Dynamic regulation of Rgs16 and its correlation with Neuregulin1 expression in acute and chronic nerve injury.

Frontiers in cell and developmental biology
2025

Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities.

Human genome variation
2025

Guillain-Barré syndrome in patients with Charcot-Marie-Tooth type 1A disease, probably a non-random association.

Neurophysiologie clinique = Clinical neurophysiology
2025

A case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome.

Frontiers in endocrinology
2025

Phosphodiesterase 4D inhibition improves the functional and molecular outcome in a mouse and human model of Charcot Marie Tooth disease 1 A.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2025

Neurogenic disease with high CK: think muscle.

Practical neurology
2024

Synergistic 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 disease
2024

The 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 Neurophysiology
2024

Unveiling a Rare Coexistence: Duchenne Muscular Dystrophy with Charcot-Marie-Tooth Disease Type 1A Presentation.

Annals of Indian Academy of Neurology
2024

p62/sequestosome-1 as a severity-reflecting plasma biomarker in Charcot-Marie-Tooth disease type 1A.

Scientific reports
2024

PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells.

Brain : a journal of neurology
2024

Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.

Annals of neurology
2024

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.

Journal of the peripheral nervous system : JPNS
2024

[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 genetics
2024

Improvement of Charcot-Marie-Tooth Phenotype with a Nanocomplex Treatment in Two Transgenic Models of CMT1A.

Biomaterials research
2024

Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication.

Stem cell research
2024

Testing SIPA1L2 as a modifier of CMT1A using mouse models.

Journal of neuropathology and experimental neurology
2024

Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.

European journal of neurology
2024

Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases.

EMBO molecular medicine
2024

Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure.

Neurology
2024

Home-based multi-sensory and proximal strengthening program to improve balance in Charcot-Marie-Tooth disease Type 1A: A proof of concept study.

Muscle &amp; nerve
2023

Preclinical Efficacy of Peripheral Nerve Regeneration by Schwann Cell-like Cells Differentiated from Human Tonsil-Derived Mesenchymal Stem Cells in C22 Mice.

Biomedicines
2023

AAV-mediated editing of PMP22 rescues Charcot-Marie-Tooth disease type 1A features in patient-derived iPS Schwann cells.

Communications medicine
2023

Gait Pattern in Charcot-Marie-Tooth Disease Type 1A According to Disease Severity.

Journal of personalized medicine
2023

Evaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A.

Medical ultrasonography
2023

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.

Brain : a journal of neurology
2023

Disease-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 : JPNS
2023

TGFβ4 alleviates the phenotype of Charcot-Marie-Tooth disease type 1A.

Brain : a journal of neurology
2023

Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease.

Neural regeneration research
2023

The 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 neurobiology
2022

Young infants with PMP22 duplication can have minor nerve conduction study abnormalities.

Neurophysiologie clinique = Clinical neurophysiology
2022

Magnetic resonance imaging-based lower limb muscle evaluation in Charcot-Marie-Tooth disease type 1A patients and its correlation with clinical data.

Scientific reports
2022

Evidence of nerve hypertrophy in patients with inclusion body myositis on lower limb MRI.

Muscle &amp; nerve
2022

Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.

Journal of clinical neuromuscular disease
2022

Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.

Genes
2022

A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice.

The Journal of clinical investigation
2022

Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice.

Molecular neurobiology
2022

Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies.

Neuromuscular disorders : NMD
2022

Nerve Ultrasound Findings before and after Surgery in a Patient with Charcot-Marie-Tooth Disease Type 1A and Comorbid Carpal Tunnel Syndrome.

Case reports in neurology
2022

Physical and Mental Aspects of Quality of Life in Patients With Charcot-Marie-Tooth Disease Type 1A.

Frontiers in neurology
2022

SARM1 knockout does not rescue neuromuscular phenotypes in a Charcot-Marie-Tooth disease Type 1A mouse model.

Journal of the peripheral nervous system : JPNS
2021

Farnesol Ameliorates Demyelinating Phenotype in a Cellular and Animal Model of Charcot-Marie-Tooth Disease Type 1A.

Current issues in molecular biology
2021

Intraepineurial fat quantification and cross-sectional area analysis of the sciatic nerve using MRI in Charcot-Marie-Tooth disease type 1A patients.

Scientific reports
2021

A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.

Orphanet journal of rare diseases
2021

Cardiopulmonary exercise performance and factors associated with aerobic capacity in neuromuscular diseases.

Muscle &amp; nerve
2021

Quantitative 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 Neurophysiology
2021

Prevalence and characterization of pain in patients with Charcot-Marie-Tooth disease type 1A.

Arquivos de neuro-psiquiatria
2021

MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A.

Neurology
2021

High-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 Neurophysiology
2020

A novel histone deacetylase 6 inhibitor improves myelination of Schwann cells in a model of Charcot-Marie-Tooth disease type 1A.

British journal of pharmacology
2021

Aquaporin-4-antibody-positive Neuromyelitis Optica Spectrum Disorder in a Patient with Charcot-Marie-Tooth Disease Type 1A.

Internal medicine (Tokyo, Japan)
2020

Short hairpin RNA treatment improves gait in a mouse model of Charcot‑Marie‑Tooth disease type 1A.

Molecular medicine reports
2020

Central 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 Australasia
2020

Charcot-Marie-Tooth disease type 1A: Longitudinal change in nerve ultrasound parameters.

Muscle &amp; nerve
2021

Diffuse brain connectivity changes in Charcot-Marie-Tooth type 1a patients: a resting-state functional magnetic resonance imaging study.

European journal of neurology
2020

Intraepidermal nerve fibre density as biomarker in Charcot-Marie-Tooth disease type 1A.

Brain communications
2020

Rate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients.

Frontiers in neurology
2020

Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.

Molecular genetics &amp; genomic medicine
2020

Vagus Nerve Ultrasound in Chronic Inflammatory Demyelinating Polyradiculoneuropathy and Charcot-Marie-Tooth Disease Type 1A.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2020

Synergistic PXT3003 therapy uncouples neuromuscular function from dysmyelination in male Charcot-Marie-Tooth disease type 1A (CMT1A) rats.

Journal of neuroscience research
2020

Electrodiagnostic 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 Neurophysiology
2020

Subcellular diversion of cholesterol by gain- and loss-of-function mutations in PMP22.

Glia
2020

Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.

Human molecular genetics
2020

High glucose level as a modifier factor in CMT1A patients.

Journal of the peripheral nervous system : JPNS
2020

[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 genetics
2021

Quality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot-Marie-Tooth disease type 1A.

Acta neurologica Belgica
2021

Multidimensional evaluation is necessary to assess hand function in patients with Charcot-Marie-Tooth disease type 1A.

Annals of physical and rehabilitation medicine
2020

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.

Neurology
2020

Neuropathic 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 Neurophysiology
2020

Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice.

Nucleic acids research
2019

Serum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy.

Scientific reports
2019

Foot Function Index: A Promising Questionnaire for Individuals With Charcot-Marie-Tooth Disease Type 1A.

Archives of physical medicine and rehabilitation
2019

miR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22.

Experimental neurobiology
2019

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

Journal of neuromuscular diseases
2019

Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity.

Neurology
2019

Genetic 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 Neurophysiology
2019

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.

Annals of neurology
2019

Replication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population.

Neuromuscular disorders : NMD
2019

Replication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population - response.

Neuromuscular disorders : NMD
2018

Reversible conduction failure on the deep tendon reflex response recording in early Guillain-Barré syndrome.

Clinical neurophysiology practice
2018

Fontan Failure Secondary to Charcot-Marie-Tooth-Induced Phrenic Neuropathy.

Texas Heart Institute journal
2019

Walking Speed Is Correlated With the Isokinetic Muscular Strength of the Knee in Patients With Charcot-Marie-Tooth Type 1A.

American journal of physical medicine &amp; rehabilitation
2018

Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A.

Neurology
2018

Differentiation 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 sciences
2018

Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A.

Scientific reports
2018

Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A.

Neuromuscular disorders : NMD
2018

Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.

Brain and behavior
2018

Skin 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 neurology
2018

Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs.

Stem cell reports
2018

Elevated 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 pathology
2018

PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models.

The Journal of clinical investigation
2018

Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A.

The Journal of clinical investigation
2018

Established 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 : JPNS
2017

Charcot-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 Society
2017

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.

Journal of neurology, neurosurgery, and psychiatry
2017

Caveats in the Established Understanding of CMT1A.

Annals of clinical and translational neurology
2018

Application of differentiated human tonsil-derived stem cells to trembler-J mice.

Muscle &amp; nerve
2017

Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy.

Journal of pediatric genetics
2017

Hand involvement in Charcot-Marie-Tooth disease type 1A may resemble rheumatoid arthritis.

Turkish journal of physical medicine and rehabilitation
2017

A case report of hereditary neuropathy with liability to pressure palsies accompanied by type 2 diabetes mellitus and psoriasis.

Medicine
2017

Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.

Muscle &amp; nerve
2017

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients.

PloS one
2017

Handwriting difficulties of children with Charcot-Marie-Tooth disease type 1A.

Journal of the peripheral nervous system : JPNS
2017

Abl2 kinase phosphorylates Bi-organellar regulator MNRR1 in mitochondria, stimulating respiration.

Biochimica et biophysica acta. Molecular cell research
2016

A 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 bao
2015

Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family.

Neural regeneration research
2015

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

American journal of human genetics
2015

[Ascorbic Acid and Charcot-Marie-Tooth Disease].

Brain and nerve = Shinkei kenkyu no shinpo
2015

Coexistence of Charcot Marie Tooth disease type 1A and diabetes in Taiwan: A clinicopathological study.

Journal of the neurological sciences
2015

Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.

Neuromuscular disorders : NMD
2015

Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A.

Journal of neurology
2015

Inducible HSP70 is critical in preventing the aggregation and enhancing the processing of PMP22.

ASN neuro
2015

Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A.

Neurology
Ver todos os 225 no EuropePMC

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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.

  1. Gait Parameters Alterations Under Dual-Task Conditions in Patients With Acquired and Hereditary Peripheral Neuropathies.
    European journal of neurology· 2026· PMID 41873949mais citado
  2. Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.
    Nature· 2026· PMID 41639462mais citado
  3. Concurrent FHL1-Related Myopathy and CMT1A Unveiled by Persistent Neuropathic Feature.
    JAMA neurology· 2026· PMID 41021222mais citado
  4. Multiple Sclerosis in Charcot-Marie-Tooth Disease Type 1A - A Case Report and Literature Review.
    Journal of central nervous system disease· 2026· PMID 41836211mais citado
  5. Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.
    Glia· 2026· PMID 41400104mais citado
  6. 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.
    Orphanet J Rare Dis· 2026· PMID 41787447recente
  7. Hypertrophy of great auricular nerve in Charcot-Marie-Tooth disease type 1A.
    Med Clin (Barc)· 2026· PMID 41539071recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:101081(Orphanet)
  2. OMIM OMIM:118220(OMIM)
  3. MONDO:0007309(MONDO)
  4. GARD:1245(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Doença de Charcot-Marie-Tooth tipo 1A
Compêndio · Raras BR

Doença de Charcot-Marie-Tooth tipo 1A

ORPHA:101081 · MONDO:0007309
Prevalência
1-5 / 10 000
Herança
Autosomal dominant
CID-10
G60.0 · Neuropatia hereditária motora e sensorial
CID-11
Ensaios
10 ativos
Início
Childhood
Prevalência
82.37 (Norway)
MedGen
UMLS
C0270911
EuropePMC
Wikidata
Papers 10a
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