OBSOLETO. As distrofias musculares de Duchenne e Becker (DMD e BMD) são doenças neuromusculares caracterizadas por fraqueza e desgaste muscular progressivo devido à degeneração dos músculos esquelético, liso e cardíaco.
Introdução
O que você precisa saber de cara
Visão geral
A distrofia muscular de Duchenne e Becker (MONDO:0016899) é uma condição neuromuscular caracterizada por fraqueza e desgaste muscular progressivo decorrentes da degeneração dos músculos esquelético, liso e cardíaco. Sua prevalência é estimada em 1 a 9 indivíduos a cada 1.000.000 de pessoas. A idade de início dos sintomas pode ocorrer na infância, na adolescência ou na fase adulta.[1]
Causas genéticas
O padrão de herança da distrofia muscular de Duchenne e Becker é recessivo ligado ao X.[1]
Diagnóstico
Tratamentos citados na literatura
Estudos científicos minerados na literatura registram associações com termos e moléculas terapêuticas para a condição, destacando-se: Oligonucleotides Antisense (195 publicações), Steroids (172 publicações), Calcium (150 publicações), Prednisone (133 publicações), deflazacort (106 publicações), Oligonucleotides (97 publicações), eteplirsen (95 publicações), Morpholinos (82 publicações), Prednisolone (73 publicações) e ataluren (62 publicações). Esses dados refletem citações científicas e não constituem recomendação de uso ou prescrição clínica.[3]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A **distrofia muscular de Duchenne e Becker** é uma condição neuromuscular genética que causa fraqueza e perda progressiva dos músculos do corpo. Ela decorre do desgaste contínuo das fibras musculares e pode ter início observado na infância, adolescência ou idade adulta. No Brasil, esta doença não consta na lista oficial de PCDT de doenças raras do Ministério da Saúde e não possui medicamentos específicos dispensados catalogados. O diagnóstico pode ser investigado por meio de testes genéticos laboratoriais para identificar alterações associadas à herança ligada ao cromossomo X.
OBSOLETO. As distrofias musculares de Duchenne e Becker (DMD e BMD) são doenças neuromusculares caracterizadas por fraqueza e desgaste muscular progressivo devido à degeneração dos músculos esquelético, liso e cardíaco.
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
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 muscular de Duchenne e Becker
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Ensaios em destaque
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Publicações mais relevantes
Protocol for in vivo analysis of muscle function in porcine models for muscular dystrophies.
Porcine models carrying DMD mutations recapitulate Duchenne and Becker muscular dystrophy (DMD and BMD), inherited disorders leading to progressive muscle weakness, with DMD presenting a far more severe and rapidly progressive phenotype. Accurate in vivo muscle function assessment is essential for monitoring disease progression and as an efficacy readout for therapeutic intervention. We present a protocol to evaluate muscle strength, dynamics, and fatigue in dystrophic pigs, including design setup, anesthesia, measurement, and data analysis. For complete details on the use and execution of this protocol, please refer to Blasi et al.1.
Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies.
Hereditary myopathies and myositis share similar clinical features, making diagnosis challenging. The 2017 EULAR/ACR classification criteria for idiopathic inflammatory myopathies (myositis) provide a probability score for myositis and its subtypes. This study aims to test the accuracy of these criteria in distinguishing myositis from hereditary myopathies and to identify diagnostic pitfalls. This retrospective study examined data from 105 patients diagnosed with genetically confirmed myotonic dystrophy type 1 and 2 (DM1 and DM2), facioscapulohumeral muscular dystrophy (FSHD), limb girdle muscular dystrophy (LGMD) and Duchenne and Becker muscular dystrophy (DMD and BMD). The performance of the 2017 EULAR/ACR criteria for myositis was tested on patient data to identify variables leading to misdiagnosis. Of the 105 patients with hereditary myopathy, 50% of DM1, 47.8% of DM2, 25% of FSHD, 35.3% of LGMD, 0% of BMD, and 36.4% of DMD patients were misclassified according to the 2017 EULAR/ACR criteria as having "possible", "probable" or "definite" myositis, resulting in an overall specificity of 63.8%. The most frequently proposed myositis subtype in misclassified cases was inclusion body myositis. Analysis of the individual criteria items revealed that proximal muscle weakness, increased CK, perifascicular atrophy and endomysial infiltration in the muscle biopsy were particularly misleading factors. The diagnostic challenge of differentiating between inflammatory and hereditary myopathies is reflected by the relatively low specificity of the classification criteria in this study. Relevant factors leading to misdiagnosis include similarities in clinical presentation and diagnostic findings, as well as late-onset disease manifestations, e.g., in LGMD, DM1, DM2.
Effectiveness of aquatic therapy on balance and functionality in children with Duchenne and Becker muscular dystrophy : a prospective controlled pilot study.
To investigate the effects of combining aquatic therapy with a home exercise program on balance, functionality, and quality of life in children with DMD/BMD, compared with a home exercise program alone. Sixteen patients aged 5-18 years with DMD/BMD were included. Those at the top of the waiting list were assigned to the intervention group (n = 8), and those further down to the control group (n = 8). The intervention group received 30-minute Halliwick-based aquatic therapy three times per week for five weeks in a 30°C pool, in addition to a home exercise program. The control group performed a home exercise program alone while awaiting aquatic therapy. The home exercise program consisted of joint range-of-motion and stretching exercises only (30 minutes/day, five days/week). Exercises were performed under caregiver supervision, and adherence was assessed by caregiver report and investigator questioning. Outcomes assessed at baseline and week 5 included weekly fall frequency, balance (Pediatric Berg Balance Scale; Functional Reach Test), activity (ACTIVLIM), physical performance (10-m walk; 4-step tests), quality of life (PedsQL Neuromuscular Module), and muscle strength (manual muscle testing) and joint range of motion. Significant improvements in balance, activity, physical performance, and quality of life were observed in the intervention group, alongside a reduction in weekly fall frequency (p < .05). In the control group, the only significant change was increased forward reach distance in the Functional Reach Test (p < .05). Between-group comparisons showed greater gains in balance, functionality, and quality-of-life scores in the intervention group (p < .01). Hip extensor strength increased significantly only in the intervention group. No adverse events occurred. Combining aquatic therapy with a home exercise program was safe and well tolerated and was associated with greater short-term improvements in balance, functionality, and quality of life than a home exercise program alone, with reduced fall frequency over five weeks. These findings support integrating aquatic therapy into DMD/BMD management and justify larger randomized controlled trials to confirm efficacy and guide optimal regimens. NCT06186310.
Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the DMD Gene.
The multiplex ligation-dependent probe amplification (MLPA) assay is designed to simultaneously screen all 79 DMD gene exons for copy number variation in Duchenne and Becker muscular dystrophy (DMD/BMD) patients. Large deletions or duplications are found as mutations in >65% of DMD/BMD patients, making the MLPA assay a leading genetic diagnostic tool for patients and their families. This assay requires only standard molecular biology, PCR amplification equipment and access to a capillary electrophoresis instrument for sizing fluorescently labeled amplicons. MLPA is in wide use for copy number analysis of the dystrophin gene, with key reagents and software available through MRC Holland, the group that originated this quantitative multiplex PCR technique.
Exploring the evidence for the use of protein biomarkers of muscular damage and disease progression in Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis protocol.
Duchenne and Becker muscular dystrophies (DMD and BMD) are devastating conditions characterised by progressive muscle degeneration and weakness. Despite advances in understanding their pathogenetic processes, there is a critical need for reliable biomarkers to aid in patient stratification and inform clinical decision-making, predict disease progression and evaluate therapeutic responses. Several promising protein biomarkers have been investigated as potential diagnostic/prognostic tools, but, to date, this evidence has not been systematically synthesised. We aim to comprehensively and critically review and summarise published studies reporting the use of protein signatures of muscular damage in DMD and BMD. We will systematically search Ovid MEDLINE (PubMed), OVID Embase, OVID Evidence-Based Medicine Reviews and Cochrane Library to retrieve all relevant articles. For ongoing trials, we will search WHO International clinical trials registry and ClinicalTrials.gov registry. We will include studies that measure circulating and urine levels of established and/or promising protein biomarkers associated with skeletal muscular damage and disease progression, such as creatine kinase, myoglobin, skeletal troponin I fast-twitch (type II), myostatin, creatine/creatinine ratio, creatinine and titin. We will consider randomised controlled trials, observational studies and longitudinal cohort studies with serial sampling, without restrictions on sample size, geographic location or language, while excluding animal and in vitro studies. Two independent reviewers will screen articles for inclusion using predefined eligibility criteria and extract data of retained articles. A third author will be consulted in case of disagreement. The approach recommended by the Agency for Healthcare Research and Quality's Methods Guide for Effectiveness and Comparative Effectiveness Reviews will be used. The risk of bias and reporting quality will be assessed with standardised scales. The analysis will involve a structured narrative synthesis and evidentiary tables. If a meta-analysis is possible, biomarker data for each outcome will be pooled using random effects models. Subgroup analyses have been planned as a function of age, genetic mutation, disease severity, imaging and clinical assessment, length of the observation and risk of bias. Ethics approval is not required for this study as no original data will be collected. The findings will be shared through peer-reviewed publications and conference presentations. Additionally, this systematic review will guide the recommendations of the Duchenne Regulatory Science Consortium. This work will provide a rigorous, exhaustive and accessible evidence synthesis to identify candidate biomarkers of potential clinical value. Furthermore, it is expected that these results could be used to facilitate the development of future research strategies and guidelines, inform resource allocation decisions and accelerate the route towards clinical implementation of biomarkers for DMD and BMD. CRD42024549471. Available from: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42024549471.
Publicações recentes
Protocol for in vivo analysis of muscle function in porcine models for muscular dystrophies.
Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies.
🥇 Revisão sistemáticaEffectiveness of aquatic therapy on balance and functionality in children with Duchenne and Becker muscular dystrophy : a prospective controlled pilot study.
Exploring the evidence for the use of protein biomarkers of muscular damage and disease progression in Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis protocol.
Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the DMD Gene.
📚 EuropePMC246 artigos no totalmostrando 121
Protocol for in vivo analysis of muscle function in porcine models for muscular dystrophies.
STAR protocolsPotential pitfalls in the differential diagnosis of myositis versus hereditary myopathies.
Clinical and experimental rheumatologyEffectiveness of aquatic therapy on balance and functionality in children with Duchenne and Becker muscular dystrophy : a prospective controlled pilot study.
Developmental neurorehabilitationExploring the evidence for the use of protein biomarkers of muscular damage and disease progression in Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis protocol.
BMJ openMultiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the DMD Gene.
Methods in molecular biology (Clifton, N.J.)A novel partial mRNA-derived duplication of the DMD gene identified in NGS carrier screening.
Journal of geneticsDecreased β-cell function in a case with Becker muscular dystrophy accompanied by post-transplant diabetes.
Endocrinology, diabetes & metabolism case reportsEarly-Onset Facial Weakness: Evaluation and Surgical Treatment of Facioscapulohumeral Muscular Disease.
The Journal of craniofacial surgeryMachine learning-based radiomics using MRI to differentiate early-stage Duchenne and Becker muscular dystrophy in children.
BMC musculoskeletal disordersUnderstanding rare variant contributions to autism: lessons from dystrophin-deficient model.
NPJ genomic medicineLabel-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins.
Scientific reportsUnveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis.
Journal of medical geneticsCardiac MRI in Duchenne and Becker Muscular Dystrophy.
Annals of Indian Academy of NeurologyThe cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.
Human genomicsThe Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data.
Journal of neuromuscular diseasesElectrophysiologic and cardiovascular manifestations of Duchenne and Becker muscular dystrophies.
Heart rhythmSubspecialty Health Care Utilization in Pediatric Patients With Muscular Dystrophy in the United States.
Neurology. Clinical practiceAsymmetric Myocardial Involvement as an Early Indicator of Cardiac Dysfunction in Pediatric Dystrophinopathies: A Study on Cardiac Magnetic Resonance (CMR) Parametric Mappings.
Pediatric cardiologyDe Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis.
International journal of molecular sciencesDuchenne and Becker muscular dystrophy: Cellular mechanisms, image analysis, and computational models: A review.
Cytoskeleton (Hoboken, N.J.)Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients.
F1000ResearchEffectiveness of a 5-Week Virtual Reality Telerehabilitation Program for Children With Duchenne and Becker Muscular Dystrophy: Prospective Quasi-Experimental Study.
JMIR serious gamesGrowth hormone and testosterone delay vertebral fractures in boys with muscular dystrophy on chronic glucocorticoids.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USAAdvances in Dystrophinopathy Diagnosis and Therapy.
BiomoleculesDoes β-Hydroxy-β-Methylbutyrate Have Any Potential to Support the Treatment of Duchenne Muscular Dystrophy in Humans and Animals?
BiomedicinesProximal myopathy: causes and associated conditions.
Discoveries (Craiova, Romania)Caregiver Burden with Duchenne and Becker Muscular Dystrophy in Japan: A Clinical Observation Study.
Internal medicine (Tokyo, Japan)Report and Abstracts of the 19th Meeting of the Interuniversity Institute of Myology: Assisi, October 20-23, 2022.
European journal of translational myologyDMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians.
Journal of clinical neuromuscular diseaseInnovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy.
International journal of molecular sciencesSources of variation in estimates of Duchenne and Becker muscular dystrophy prevalence in the United States.
Orphanet journal of rare diseasesDystrophin Short Product, Dp71, Interacts with AQP4 and Kir4.1 Channels in the Mouse Cerebellar Glial Cells in Contrast to Dp427 at Inhibitory Postsynapses in the Purkinje Neurons.
Molecular neurobiologyGenetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
Journal of medical geneticsRetinal dystrophins and the retinopathy of Duchenne muscular dystrophy.
Progress in retinal and eye researchDiagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study.
American journal of medical genetics. Part C, Seminars in medical geneticsA Parallel Need for Cardiovascular Care for Female Carriers of Duchenne and Becker Muscular Dystrophy.
Journal of cardiac failureHealth Care Use of Cardiac Specialty Care in Children With Muscular Dystrophy in the United States.
Journal of the American Heart AssociationRole Attainment in Emerging Adulthood: Subjective Evaluation by Male Adolescents and Adults with Duchenne and Becker Muscular Dystrophy.
Journal of neuromuscular diseasesSerum cardiac troponin I is a candidate biomarker for cardiomyopathy in Duchenne and Becker muscular dystrophies.
Muscle & nerveGlobal prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.
Journal of orthopaedic surgery and researchIntron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Human mutationCombining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies.
Frontiers in neurologyLessons Learned From Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation.
Frontiers in geneticsDifferentiation of Pediatric-Onset Duchenne and Becker Muscular Dystrophy Subphenotypes Using Data from the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet).
Journal of neuromuscular diseasesA 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Journal of neuromuscular diseasesComparison of Carrier and de novo Pathogenic Variants in a Chinese DMD/BMD Cohort.
Frontiers in neurologyHow Patient Organizations Can Drive FAIR Data Efforts to Facilitate Research and Health Care: A Report of the Virtual Second International Meeting on Duchenne Data Sharing, March 3, 2021.
Journal of neuromuscular diseasesSteroid switching in dystrophinopathy treatment: a US chart review of patient characteristics and clinical outcomes.
Journal of comparative effectiveness researchCorrigendum: Sequence and Structure Characteristics of 22 Deletion Breakpoints in Intron 44 of the DMD Gene Based on Long-Read Sequencing.
Frontiers in geneticsSequence and Structure Characteristics of 22 Deletion Breakpoints in Intron 44 of the DMD Gene Based on Long-Read Sequencing.
Frontiers in geneticsA symptomatic male carrier of Duchenne muscular dystrophy with Klinefelter's syndrome mimicking Becker muscular dystrophy.
Neuromuscular disorders : NMDNeural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging.
PloS oneThe lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD.
BiomedicinesTetrahydrobiopterin synthesis and metabolism is impaired in dystrophin-deficient mdx mice and humans.
Acta physiologica (Oxford, England)Genotype-Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry.
Journal of personalized medicineSlow oscillation density and amplitude decrease across development in pediatric Duchenne and Becker muscular dystrophy.
SleepThe Duchenne muscular dystrophy gene and cancer.
Cellular oncology (Dordrecht, Netherlands)Epigenetics of neuromuscular disorders.
EpigenomicsDecision-Making And Selection Bias in Four Observational Studies on Duchenne and Becker Muscular Dystrophy.
Journal of neuromuscular diseasesAdvances in Genetic Characterization and Genotype-Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era.
Journal of personalized medicineEstimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).
Molecular genetics and metabolism reportsDuchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing.
International journal of cardiologyUrinary incontinence in men with Duchenne and Becker muscular dystrophy.
PloS oneThe care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic.
Muscle & nerveMetabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies.
Journal of clinical medicineDevelopmental delay and neuropsychiatric comorbidities associated with Duchenne and Becker muscular dystrophy.
Muscle & nerveIntramuscular blood flow in Duchenne and Becker Muscular Dystrophy: Quantitative power Doppler sonography relates to disease severity.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyA case report: X-linked dystrophin gene mutation causing severe isolated dilated cardiomyopathy.
European heart journal. Case reportsInstruments for the Assessment of Behavioral and Psychosocial Functioning in Duchenne and Becker Muscular Dystrophy; a Systematic Review of the Literature.
Journal of pediatric psychologyAssessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy.
Journal of genetic counselingUpdate in Duchenne and Becker muscular dystrophy.
Current opinion in neurologyPalliative care services in families of males with muscular dystrophy: Data from MD STARnet.
SAGE open medicineMutation-Based Therapeutic Strategies for Duchenne Muscular Dystrophy: From Genetic Diagnosis to Therapy.
Journal of personalized medicineCardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping.
Orphanet journal of rare diseasesProgressive left ventricular dysfunction and myocardial fibrosis in Duchenne and Becker muscular dystrophy: a longitudinal cardiovascular magnetic resonance study.
Pediatric cardiologyImpaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy.
NutrientsNeuronal nitric oxide synthase (nNOS) splice variant function: Insights into nitric oxide signaling from skeletal muscle.
Nitric oxide : biology and chemistryInterventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy.
The Cochrane database of systematic reviewsDiagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1.
Journal of neuromuscular diseasesHow Do Members of the Duchenne and Becker Muscular Dystrophy Community Perceive a Discrete-Choice Experiment Incorporating Uncertain Treatment Benefit? An Application of Research as an Event.
The patientHealth Care Transition Experiences of Males with Childhood-onset Duchenne and Becker Muscular Dystrophy: Findings from the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) Health Care Transitions and Other Life Experiences Survey.
PLoS currentsMuscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011.
Birth defects researchSkeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy-Implications for Therapies.
NutrientsEngaging patients and caregivers in prioritizing symptoms impacting quality of life for Duchenne and Becker muscular dystrophy.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitationSyntrophin binds directly to multiple spectrin-like repeats in dystrophin and mediates binding of nNOS to repeats 16-17.
Human molecular geneticsDuchenne and Becker muscular dystrophy in adolescents: current perspectives.
Adolescent health, medicine and therapeuticsMolecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China.
Chinese medical journalA novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy.
Neuromuscular disorders : NMDNext Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation.
GeneNext-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.
Genome medicineTranscriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.
Biochimica et biophysica acta. Gene regulatory mechanismsThe PJ Nicholoff Steroid Protocol for Duchenne and Becker Muscular Dystrophy and Adrenal Suppression.
PLoS currentsPatients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup.
Neuromuscular disorders : NMDMyocardial Fibrosis in Duchenne and Becker Muscular Dystrophy-Reply.
JAMA cardiologyMyocardial Fibrosis in Duchenne and Becker Muscular Dystrophy.
JAMA cardiologySecondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy.
Journal of child neurologyMyocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial.
JAMA cardiologyKnowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy.
Neuromuscular disorders : NMDPrevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico.
Journal of neuromuscular diseasesNitric Oxide Regulates Skeletal Muscle Fatigue, Fiber Type, Microtubule Organization, and Mitochondrial ATP Synthesis Efficiency Through cGMP-Dependent Mechanisms.
Antioxidants & redox signalingEvaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.
Journal of geneticsPrenatal diagnosis of congenital myopathies and muscular dystrophies.
Clinical geneticsIdentification of cardiomyopathy associated circulating miRNA biomarkers in patients with muscular dystrophy using a complementary cardiovascular magnetic resonance and plasma profiling approach.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic ResonanceA systematic review of risk factors associated with muscular dystrophies.
NeurotoxicologyCorrelation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.
PloS oneAge at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet.
Journal of pediatric rehabilitation medicine[Central manifestations of dystrophinopathies].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieDeletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.
PloS oneWhat can Duchenne Connect teach us about treating Duchenne muscular dystrophy?
Current opinion in neurologyMothers' psychological adaptation to Duchenne/Becker muscular dystrophy.
European journal of human genetics : EJHGNovel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy.
Pediatric neurologyCardiac involvement in Duchenne and Becker muscular dystrophy.
World journal of cardiology[Duchenne and Becker muscular dystrophy complicated with epilepsy].
Zhonghua er ke za zhi = Chinese journal of pediatricsCardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives: a comparative cardiovascular magnetic resonance study.
European heart journal. Cardiovascular ImagingPathways Implicated in Tadalafil Amelioration of Duchenne Muscular Dystrophy.
Journal of cellular physiologyThe Pathogenesis and Therapy of Muscular Dystrophies.
Annual review of genomics and human geneticsGenetics and emerging treatments for Duchenne and Becker muscular dystrophy.
Pediatric clinics of North AmericaPrevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.
Child neurology openPain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyComplex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.
Molecular genetics & genomic medicineA comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
Orphanet journal of rare diseasesAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Distrofia muscular de Duchenne e Becker e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Ainda não achamos doenças com sintomas parecidos o suficiente.
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É um grupo de doenças neuromusculares marcado por fraqueza e desgaste progressivo dos músculos. O quadro afeta tanto o músculo esquelético quanto a musculatura lisa e o coração.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
4 fontes citadas no texto · 5 publicações do grafo RarasNet (PubMed) · 3 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (2026). Distrofia muscular de Duchenne e Becker. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/distrofia-muscular-de-duchenne-e-becker
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Distrofia muscular de Duchenne e Becker
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Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
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- fonte: MONDO
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- fonte: Wikidata
