Distrofia miotónica (português europeu) ou distrofia miotônica (português brasileiro) é uma doença genética crónica que afeta a função muscular. Os sintomas mais evidentes são fraqueza e atrofia muscular progressivas. Em muitos casos os músculos contraem-se e são incapazes de relaxar. Entre outros possíveis sintomas estão cataratas, deficiência intelectual e problemas na condução elétrica do coração. Em homens, pode ocorrer calvície precoce e infertilidade.
Introdução
O que você precisa saber de cara
Doença genética autossômica dominante causada por expansão de repetições CTG no gene DMPK. Manifesta-se na vida adulta com miotonia, fraqueza muscular progressiva, e acometimento multissistêmico (cardíaco, ocular, endócrino).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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.
Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction
Endoplasmic reticulum membraneNucleus outer membraneMitochondrion outer membraneSarcoplasmic reticulum membraneCell membraneCytoplasm, cytosolMitochondrion membrane
Dystrophia myotonica 1
A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias.
Variantes genéticas (ClinVar)
204 variantes patogênicas registradas no ClinVar.
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 — Distrofia miotônica de Steinert de início no adulto
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
Ensaios em destaque
Pesquisa e ensaios clínicos
0 ensaios clínicos encontrados.
Publicações mais relevantes
Living and coping with adult-onset myotonic dystrophy type 1 from the perspectives of caregivers.
To investigate experiences and perspectives of caregivers of people with adult-onset myotonic dystrophy type 1 (DM1) on living and coping with DM1 to inform future targeted rehabilitation services. Qualitative study using the Interpretive Description methodology and Herbert Blumer's Symbolic Interactionism as the theoretical lens. Data was generated through four focus group interviews and two individual interviews, with a total of 13 caregivers. The analysis identified three categorical themes and five subthemes on how caregivers understand living and coping with adult-onset DM1: 'Continuous reflections on everyday life as a caregiver', 'Being a part of the disease trajectory', and 'Changes in social relations when living with a person with DM1'. The findings provided insights into how caregivers found meaning in and handled everyday life, which might be influenced by social interactions when living with a person with adult-onset DM1. The progressive changes in functioning caused by DM1 led the caregivers to make constant adaptations to their everyday lives. The findings illustrate how caregivers can play an important role in their close ones' disease trajectory when addressing biopsychosocial needs that arise in everyday life. Healthcare professionals should encourage caregiver involvement in hospital follow-ups and recognize their expert knowledge and experiences regarding living with a person with adult-onset myotonic dystrophy type 1 (DM1).Healthcare interventions should support caregivers in order for them to uncover their needs and gain knowledge and resources to address the biopsychosocial challenges that arise when living with a person with adult-onset DM1.It is important to provide professionally facilitated peer support for caregivers to allow them to share concerns related to disease progression, increased responsibilities, and social changes.
Cerebrospinal fluid proteomic profiling reveals potential biomarkers and altered pathways in myotonic dystrophy type 1.
Myotonic dystrophy (DM), the most common adult-onset muscular dystrophy, affects not only motor function and muscle integrity but also leads to debilitating cardiopulmonary, gastrointestinal, and multisystem complications. Central nervous system (CNS) involvement is increasingly recognized, manifesting as impairments in working memory, executive function, sleep regulation, and mood and behavior. These interrelated, multisystemic features contribute to multifaceted symptoms that significantly reduce quality of life for patients and their families. To identify potential biomarkers of CNS disease activity in DM1, we performed the first exploratory cerebrospinal fluid (CSF) proteomic profiling study. CSF samples from patients with DM1 (n = 11) and healthy controls (n = 5) were analyzed using Olink monoclonal antibody panels, quantifying 1,072 proteins. LASSO (Least Absolute Shrinkage and Selection Operator) regression identified proteins discriminating between DM1 and controls. Pathway enrichment analysis was performed using the Reactome database to assess biological significance. Six candidate biomarker proteins were differentially expressed between between DM1 patients and controls: CKAP4, SCARF1, NCAM1, CD59, PTH1R, and CA4. LASSO analysis further identified 15 proteins discriminating DM1 and controls, implicating pathways related to neuronal health, neuroinflammation, cognitive impairment, skeletal abnormalities, motor control, neuromuscular junction integrity, and cytoskeletal regulation. Dysregulated pathways included IGF transport, MAPK signaling, NCAM signaling, and broader signal transduction cascades pathways also implicated in other neurodevelopmental, neurodegenerative, and neuromuscular disorders. This first exploratory CSF proteomic analysis in DM1 identified dysregulated protein networks that may underlie CNS dysfunction in this multisystemic disease. These findings provide novel insights into DM1 pathophysiology and support the potential of CSF proteomic signatures as candidate diagnostic tools, indicators of disease activity, and measures of therapeutic response, pending validation in larger, independent cohorts.
MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility.
Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy and severely affects multiple organ systems, including the brain, heart, skeletal muscle, and gastrointestinal (GI) tract. Despite 80% of individuals with DM1 experiencing GI dysfunction that affects their daily life, the mechanisms of GI dysmotility in DM1 remain an understudied aspect of the disease. DM1 is caused by a CTG repeat expansion in the DMPK gene that, when expressed as an expanded CUG repeat RNA, sequesters and reduces the activity of the muscleblind-like (MBNL) RNA-binding protein family. We developed a mouse line with conditional, smooth muscle-specific knockout of Mbnl1 and Mbnl2 to model and investigate myogenic mechanisms contributing to GI dysmotility in DM1. Mice with Mbnl knockout exhibited delayed GI transit of small and large bowel in vivo and increased smooth muscle contractile tone of jejunum and colon segments ex vivo. Smooth muscle from the jejunum and colon showed no histopathology suggesting an intrinsic defect and contained increased phosphorylation of the 20 kDa myosin light chain (Mlc20), consistent with increased contraction. RNA sequencing of mouse and human DM1 GI samples enriched for smooth muscle revealed conserved misregulated alternative splicing of transcripts associated with the regulation of Mlc20 phosphorylation and smooth muscle contraction. These findings demonstrate that Mbnl knockout disrupts the regulation of contraction dynamics and causes GI smooth muscle hyperactivity, suggesting that therapeutics that reduce GI contractile activity may improve DM1 GI symptoms.
Elevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness.
Myotonic Dystrophy type 1 (DM1) is a complex disease affecting multiple tissues, including skeletal and cardiac muscles, the brain and the eyes. DM1 results from an expansion of CTG repeats in the 3' UTR of the DMPK gene. Previously, we described that the small-molecule inhibitor of GSK3β, tideglusib (TG), reduces DM1 pathology in DM1 cell and mouse models by correcting the GSK3β-CUGBP1 pathway, decreasing the mutant CUG-containing RNA. Respectively, clinical trials using TG showed promising results for patients with congenital DM1 (CDM1). The drug development in DM1 human studies needs specific and noninvasive biomarkers. We examined the blood levels of active GSK3β in different clinical forms of DM1 and found an increase in active GSK3β in the peripheral blood mononuclear cells (PBMCs) in patients with CDM1, juvenile DM1 and adult-onset DM1 vs. unaffected patients. The blood levels of active GSK3β correlate with the length of CTG repeats and severity of muscle weakness. Thrombospondin and TGFβ, linked to the TG-GSK3β pathway in DM1, are also elevated in the DM1 patients' blood. These findings show that the blood levels of active GSK3β might be developed as a potential noninvasive biomarker of muscle weakness in DM1.
Societal Costs, Healthcare Utilisation and Labour Market Affiliation of Persons With Adult-Onset Myotonic Dystrophy Type 1 (DM1)-A Register-Based Study II.
Adult-onset myotonic dystrophy type 1 (DM1) is characterised by diagnostic delay due to milder symptomatology than the congenital and juvenile forms. The multiorgan symptoms in the multiorgan nature of DM1 have negative biopsychosocial consequences. The aim was to apply national health registers to provide updated knowledge on the use and costs of healthcare services and labour market affiliation of persons with adult-onset DM1 in Denmark. Analyses were based on a population of 949 adult persons with DM1 and 9427 controls. Median age at diagnosis was 43 years. Each person with DM1 was matched with ten reference individuals from the general Danish population without DM1. Data were retrieved from several databases: Statistics Denmark, the Danish National Patient Register, Danish National Health Service Register, the Danish National Prescription Registry and the Income register and the DREAM database. During the 20-year following diagnosis, persons with DM1 had 2.5 times more inpatient contacts, 2 times more outpatient contacts and 29.1 times more hours of home care than their controls. Persons with DM1 had a lower educational level, a higher risk of early disability pension (HR: 11.6, CI: 9.92-13.6), 68.2 weeks more unemployment and 29.2 weeks more long-term sick leave and EUR 11,700-23,500 a lower income per year of the study. For all results, the difference between persons with DM1 and their controls was more expressed in males. The course of disease in adult-onset DM1-normally considered to be mild-has a significant impact on health and living conditions.
Publicações recentes
Mast cell mediators in hereditary angioedema.
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
📚 EuropePMCmostrando 103
Cerebrospinal fluid proteomic profiling reveals potential biomarkers and altered pathways in myotonic dystrophy type 1.
Frontiers in neuroscienceMBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility.
Proceedings of the National Academy of Sciences of the United States of AmericaElevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness.
International journal of molecular sciencesHealth-related quality of life, pain, and fatigue in myotonic dystrophy type 2: a 13-year follow-up study.
Disability and rehabilitationLiving and coping with adult-onset myotonic dystrophy type 1 from the perspectives of caregivers.
Disability and rehabilitation"This Disease Is a Verdict You Must Live With for the Rest of Your Life": Experiences and Perspectives From People Living With Adult-Onset Myotonic Dystrophy Type 1.
Qualitative health researchMolecular genetics of myotonic dystrophy and the evolution of therapeutic approaches.
Journal of human geneticsSocietal Costs, Healthcare Utilisation and Labour Market Affiliation of Persons With Adult-Onset Myotonic Dystrophy Type 1 (DM1)-A Register-Based Study II.
European journal of neurologyMultiorgan Involvement and Mortality in Individuals With Adult-Onset Myotonic Dystrophy (DM1)-A Danish Register-Based Study I.
European journal of neurologyTreatments and therapies for symptoms and clinical manifestations of adult type 1 myotonic dystrophy: A scoping review.
Journal of the neurological sciencesModulating CCTG repeat expansion toxicity in DM2 Drosophila model through TDP1 inhibition.
EMBO molecular medicineLatent factors underlying the symptoms of adult-onset myotonic dystrophy type 1 during the clinical course.
Orphanet journal of rare diseasesAlternative splicing dysregulation across tissue and therapeutic approaches in a mouse model of myotonic dystrophy type 1.
Molecular therapy. Nucleic acidsA meta-analysis of the prevalence of neuropsychiatric disorders and their association with disease onset in myotonic dystrophy.
Acta neuropsychiatricaParental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1.
Developmental medicine and child neurologyLiving with adult-onset myotonic dystrophy type 1: a scoping review.
Disability and rehabilitationNeurocognitive disorder in Myotonic dystrophy type 1.
HeliyonGeneration of three myotonic dystrophy type 1 patient iPSC lines (CBRCULi018-A, CBRCULi019-A, CBRCULi020-A) derived from lymphoblastoid cell lines for disease modelling and therapeutic research.
Stem cell researchMyotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort.
Neurology IndiaMale infertility with muscle weakness: a point of view.
Annals of medicine and surgery (2012)The current clinical perception of myotonic dystrophy type 2.
Current opinion in neurologyLongitudinal changes in white matter as measured with diffusion tensor imaging in adult-onset myotonic dystrophy type 1.
Neuromuscular disorders : NMDIndividual transcriptomic response to strength training for patients with myotonic dystrophy type 1.
JCI insightEGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
Journal of the peripheral nervous system : JPNSExcessive rest time during active phase is reliably detected in a mouse model of myotonic dystrophy type 1 using home cage monitoring.
Frontiers in behavioral neurosciencePeriostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1.
Journal of neurologyPrimary Sjögren's syndrome with type II respiratory failure caused by myotonic dystrophy type 1: A case report and literature review.
International journal of rheumatic diseasesCalcitriol increases MBNL1 expression and alleviates myotonic dystrophy phenotypes in HSALR mouse models.
Journal of translational medicineMyotonic dystrophy type 1: A comparison between the adult- and late-onset subtype.
Muscle & nerveStudy of an RNA-Focused DNA-Encoded Library Informs Design of a Degrader of a r(CUG) Repeat Expansion.
Journal of the American Chemical SocietyMasseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1.
Neuromuscular disorders : NMDHaving an eye for myotonic dystrophy: A qualitative study on experiences and support needs in myotonic dystrophy type 1 patients with a diagnostic delay after early-onset cataract.
Neuromuscular disorders : NMDCombinatorial treatment with exercise and AICAR potentiates the rescue of myotonic dystrophy type 1 mouse muscles in a sex-specific manner.
Human molecular geneticsArrhythmic CArdiac DEath in MYotonic dystrophy type 1 patients (ACADEMY 1) study: the predictive role of programmed ventricular stimulation.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyMECP2-related pathways are dysregulated in a cortical organoid model of myotonic dystrophy.
Science translational medicineGenetics and muscle pathology in the diagnosis of muscular dystrophies: An update.
Indian journal of pathology & microbiologyMolecular characterization of myotonic dystrophy fibroblast cell lines for use in small molecule screening.
iScienceTissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
Acta neuropathologica communicationsCutaneous findings in myotonic dystrophy.
JAAD internationalBlood-Based Markers of Neuronal Injury in Adult-Onset Myotonic Dystrophy Type 1.
Frontiers in neurologySpeech and language abnormalities in myotonic dystrophy: An overview.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiamiR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1.
Molecular therapy. Methods & clinical developmentSubjective-objective sleepiness discrepancy in adult-onset myotonic dystrophy type 1.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineDeciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy.
Neurobiology of diseaseCognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1.
Frontiers in neurologyAssessment of self-reported and objective daytime sleepiness in adult-onset myotonic dystrophy type 1.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineNeurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1.
Neurology. GeneticsQuantitative muscle MRI as a sensitive marker of early muscle pathology in myotonic dystrophy type 1.
Muscle & nerveMyotonic dystrophy type 2: the 2020 update.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyPredictors of prognosis in type 1 myotonic dystrophy (DM1): longitudinal 18-years experience from a single center.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyDNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1.
EpigenomicsPredictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1.
Disability and rehabilitationCentral Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1.
Frontiers in neurologyEncoding of facial expressions in individuals with adult-onset myotonic dystrophy type 1.
Journal of clinical and experimental neuropsychologyExpiratory muscle strength training improves measures of pressure generation and cough strength in a patient with myotonic dystrophy type 1.
Neuromuscular disorders : NMDUnexpected Mutations by CRISPR-Cas9 CTG Repeat Excision in Myotonic Dystrophy and Use of CRISPR Interference as an Alternative Approach.
Molecular therapy. Methods & clinical developmentCharacterizing cognitive-motor impairments in patients with myotonic dystrophy type 1.
Neuromuscular disorders : NMDScreening for early symptoms of respiratory involvement in myotonic dystrophy type 1 using the Respicheck questionnaire.
Neuromuscular disorders : NMDCognitive function and its relationship with brain structure in myotonic dystrophy type 1.
Journal of neuroscience researchFatigue in myotonic dystrophy type 1: a seven-year prospective study.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyDosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1.
Cell research[Multiorgan manifestations in myotonic dystrophy type 1].
Orvosi hetilapScapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.
Journal of neurologyWhat is in the Myopathy Literature?
Journal of clinical neuromuscular diseaseDeprivation of Muscleblind-Like Proteins Causes Deficits in Cortical Neuron Distribution and Morphological Changes in Dendritic Spines and Postsynaptic Densities.
Frontiers in neuroanatomyDifferences in the pattern of cognitive impairments between juvenile and adult onset myotonic dystrophy type 1.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaMolecular genetics of congenital myotonic dystrophy.
Neurobiology of diseaseBrain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats.
Journal of neuromuscular diseasesA model to predict ventilator requirement in myotonic dystrophy type 1.
Muscle & nerveTracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study.
PloS oneHealth-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review.
The patientDissecting Pathogenetic Mechanisms and Therapeutic Strategies in Drosophila Models of Myotonic Dystrophy Type 1.
International journal of molecular sciencesDiffusion tensor imaging and voxel-based morphometry reveal corticospinal tract involvement in the motor dysfunction of adult-onset myotonic dystrophy type 1.
Scientific reportsMyotonic Dystrophies: Targeting Therapies for Multisystem Disease.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsValidation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1.
Neuromuscular disorders : NMDDiastolic heart dysfunction is correlated with CTG repeat length in myotonic dystrophy type 1.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyMechanisms of skeletal muscle wasting in a mouse model for myotonic dystrophy type 1.
Human molecular geneticsElevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2.
Neuro-degenerative diseasesFive-year serial follow-up of muscle MRI in adult onset myotonic dystrophy type 1: A case report.
MedicineChildhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity?
Neuromuscular disorders : NMDCRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients.
Molecular therapy. Nucleic acidsBrain gray matter structural network in myotonic dystrophy type 1.
PloS oneDisrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy.
Genes & developmentIdentification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress.
Human molecular geneticsA 9-year follow-up study of the natural progression of upper limb performance in myotonic dystrophy type 1: A similar decline for phenotypes but not for gender.
Neuromuscular disorders : NMDHereditary myopathies with early respiratory insufficiency in adults.
Muscle & nerveBody composition and clinical outcome measures in patients with myotonic dystrophy type 1.
Neuromuscular disorders : NMDA novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype.
Neuromuscular disorders : NMDThe Dystrophic and Nondystrophic Myotonias.
Continuum (Minneapolis, Minn.)Progressive Cl- channel defects reveal disrupted skeletal muscle maturation in R6/2 Huntington's mice.
The Journal of general physiologyA CASE OF CONE DYSTROPHY ASSOCIATED WITH CHOROIDAL NEOVASCULARIZATION.
Retinal cases & brief reportsParticipation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review.
Developmental medicine and child neurologyUnravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification.
Revue neurologiqueRelationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1.
NeuroImage. ClinicalCognition in myotonic dystrophy type 1: a 5-year follow-up study.
European journal of neurologyA Potent Inhibitor of Protein Sequestration by Expanded Triplet (CUG) Repeats that Shows Phenotypic Improvements in a Drosophila Model of Myotonic Dystrophy.
ChemMedChemQuality of life in patients with myotonic dystrophy type 2.
Journal of the neurological sciencesComparison of small molecules and oligonucleotides that target a toxic, non-coding RNA.
Bioorganic & medicinal chemistry lettersDisease awareness in myotonic dystrophy type 1: an observational cross-sectional study.
Orphanet journal of rare diseasesIncreased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model.
Disease models & mechanismsElevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress.
PloS oneEfficient and highly sensitive screen for myotonic dystrophy type 1 using a one-step triplet-primed PCR and melting curve assay.
The Journal of molecular diagnostics : JMDPrimary cataract as a key to recognition of myotonic dystrophy type 1.
European journal of ophthalmologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Distrofia miotônica de Steinert de início no adulto.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Distrofia miotônica de Steinert de início no adulto
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Ainda não achamos doenças com sintomas parecidos o suficiente.
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.
- Living and coping with adult-onset myotonic dystrophy type 1 from the perspectives of caregivers.
- Cerebrospinal fluid proteomic profiling reveals potential biomarkers and altered pathways in myotonic dystrophy type 1.
- MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility.Proceedings of the National Academy of Sciences of the United States of America· 2025· PMID 41379996mais citado
- Elevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness.
- Societal Costs, Healthcare Utilisation and Labour Market Affiliation of Persons With Adult-Onset Myotonic Dystrophy Type 1 (DM1)-A Register-Based Study II.
- Mast cell mediators in hereditary angioedema.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
- The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:589830(Orphanet)
- MONDO:0035649(MONDO)
- GARD:22364(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
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
