A Distrofia Muscular de Becker (DMB) é uma doença neuromuscular caracterizada pela perda progressiva de massa muscular e fraqueza, devido à degeneração dos músculos esqueléticos (aqueles que usamos para nos mover), dos músculos lisos (presentes em órgãos internos) e do músculo cardíaco (o coração).
Introdução
O que você precisa saber de cara
A Distrofia Muscular de Becker (DMB) é uma doença neuromuscular caracterizada pela perda progressiva de massa muscular e fraqueza, devido à degeneração dos músculos esqueléticos (aqueles que usamos para nos mover), dos músculos lisos (presentes em órgãos internos) e do músculo cardíaco (o coração).
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: X-linked recessive.
Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission
Cell membrane, sarcolemmaCytoplasm, cytoskeletonPostsynaptic cell membrane
Duchenne muscular dystrophy
Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.
Variantes genéticas (ClinVar)
9,917 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2,167 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
3 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Distrofia muscular, tipo Becker
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 797
Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.
Becker muscular dystrophy (BMD) is a rare X-linked neuromuscular disorder predominantly affecting males. While respiratory function has been characterised in small cohorts over limited time frames, comprehensive long-term longitudinal data remain lacking, as do established care guidelines to inform respiratory surveillance in BMD. In this retrospective analysis, we present a large longitudinal analysis of respiratory function in patients with BMD, based on 1360 spirometry measurements from a single-centre cohort of 152 patients. Analysed assessments spanned paediatric to adult ages (3.4-86.3 years), with a mean follow-up duration of 11 years per patient.Linear mixed-effects models were used to study longitudinal changes in respiratory function. Respiratory decline in BMD appears gradual and variable, typically not affecting children (<18 years of age).Respiratory support was infrequent (11.2%), always non-invasive and limited to nocturnal use.Loss of ambulation emerged as a strong predictor of faster decline in forced vital capacity percentage of predicted (FVC%) (estimate -0.58%/year, p=0.002), with the requirement for assistive walking devices marking a critical transitional stage.Upper limb function, assessed via the PUL 2.0 entry item, correlated significantly with FVC%, particularly among non-ambulant patients (rho=0.60, p=0.02). Cardiac involvement showed a limited effect on respiratory function, likely driven by patients with more advanced cardiomyopathy.No consistent genotype-phenotype correlations were observed. These findings provide important evidence to inform clinical management, supporting the recommendation of individualised respiratory monitoring strategies and contributing to the design and interpretation of clinical trials in BMD.
A roadmap for a patient-centred approach to Pompe disease management.
Pompe disease is a rare, progressive genetic disorder caused by pathogenic variants in the GAA gene. Emerging gene therapies offer the potential for long-term disease management, although logistical and clinical challenges demand specialised centres with defined protocols. A scientific steering committee of 8 European experts deliberated on the requirements for establishing gene therapy centres of excellence for Pompe disease. A modified think-tank approach was used to develop expert-based recommendations through qualitative research utilizing expert opinion methodology. Discussion topics were validated in an online kick-off meeting. Experts were assigned specific topics and tasked with generating content. Multiple online meetings facilitated expert presentations, discussions, and validation of recommendations for each topic. Optimised patient management and timely access to treatment require accurate diagnosis and evaluation of Pompe disease. The committee recommended expanding newborn screening programs for infantile-onset Pompe disease and developing protocols for follow-up of presymptomatic late-onset Pompe disease. A specialised multidisciplinary team trained in Pompe disease and gene therapy should manage the patient journey. Pre-gene therapy assessments were recommended to mitigate risks. Patients should be hospitalized and continuously monitored during gene therapy infusions. After gene therapy, guidelines recommend corticosteroid immunosuppression, monitoring for adverse events (including hepatoxicity, myocarditis, thrombocytopenia, thrombotic microangiopathy, and hemophagocytic lymphohistiocytosis), and Pompe disease assessments (including motor functional assessments, magnetic resonance imaging of the muscles, and patient-reported outcomes). Centres of excellence require infrastructure with standard operating procedures for gene therapy products. Implementing gene therapy for Pompe disease requires a coordinated multidisciplinary effort to overcome gaps in knowledge, infrastructure, and patient management.
[Expert consensus on respiratory rehabilitation strategies for Duchenne muscular dystrophy (2026)].
杜氏肌营养不良(DMD)是一种致死性X连锁隐性遗传性肌肉疾病,呼吸系统并发症是其主要死因。为规范DMD患者的呼吸管理,改善生活质量并延长生存期,中华医学会儿科学分会康复学组联合中国罕见病联盟Duchenne/Becker型肌营养不良专业委员会制订“杜氏肌营养不良呼吸康复策略专家共识(2026)”,旨在提供实用的DMD呼吸管理推荐,促进多学科协作诊疗模式的建立与应用,改善患者预后。.
A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.
Pathogenic DMD variants usually follow the reading-frame rule: out-of-frame changes cause Duchenne muscular dystrophy, whereas in-frame ones produce Becker muscular dystrophy (BMD). We report a 23-year-old man with BMD-like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy. A novel hemizygous c.2281delG variant converted an A₄GA₅ motif to A₉, predicting a frameshift; however, Western blot showed ~15% full-length dystrophin. cDNA and polymerse chain reaction (PCR)-free direct RNA sequencing demonstrated transcriptional slippage, adding 1 adenine (A₁₀) that restores the reading frame and dystrophin. This RNA-level rescue of an out-of-frame DMD variant explains the mild phenotype and highlights the importance of transcript-level analysis in dystrophinopathies. ANN NEUROL 2026;99:223-230.
Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.
Muscular dystrophies are a group of inherited neuromuscular disorders characterized by degenerative and progressive muscle weakness. Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and merosin-deficient congenital muscular dystrophy type 1 (MDC1A) are frequent forms caused by DMD (NM_004006.3) and LAMA2 (NM_000426.4) mutations, respectively. Our study used whole exome sequencing to explore the molecular genetics of muscular dystrophies in six unrelated Pakistani families. We found four novel variants in the LAMA2; c.7470_7473del; p.(Lys2490AsnfsTer56) in family A, c.7807del; p.(Ala2603HisfsTer4) in family C, c.8651T > C; p.(Met2884Thr) in family D and c.4127T > A; p.(Leu1376Ter) in family E associated with MDC1A in these families. Furthermore, two already cited DMD variants were identified: c.10,801 C > T; p.(Gln872Ter) in family B and hemizygous genomic deletion in DMD (NM_004006.3):g.32438241_32809611del (corresponding to deletion of exons 7–29; GRCh38), which was identified (in family F) associated with BMD and DMD, respectively. We present the first report of MDC1A-associated phenotypes caused by the LAMA2 gene in the Pakistani population, while DMD-related cases have already been documented in the literature and public databases. Clinical and molecular diagnosis of these six affected families will be valuable in therapeutic interventions and prenatal diagnosis of neuromuscular dystrophies in the familial and Pakistani populations. Our study emphasizes the effectiveness of next generation sequencing technology over traditional diagnostic methods such as muscle biopsies.
Publicações recentes
Neonatal screening for Duchenne muscular dystrophy in eastern China: a closed prospective study.
🥉 Relato de casoMolecular Mechanisms and Therapeutic Strategies in Heart Failure Due to Dystrophin Deficiency: A Comprehensive Review.
🥉 Relato de casoClinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.
📖 RevisãoIf Becker Muscular Dystrophy Initially Manifests with Heart Disease and Rhabdomyolysis, Neurological Work-up Is Imperative.
📚 EuropePMC872 artigos no totalmostrando 196
Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.
Molecular biology reportsIf Becker Muscular Dystrophy Initially Manifests with Heart Disease and Rhabdomyolysis, Neurological Work-up Is Imperative.
Internal medicine (Tokyo, Japan)Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.
Journal of neurology, neurosurgery, and psychiatryBecker muscular dystrophy in a pediatric patient: A case report.
The Nurse practitionerTotal intravenous anesthesia for cardiac transplantation in a teenager with Becker muscular dystrophy: A case report.
Saudi journal of anaesthesiaTest the grandfather! Incidental in-frame DMD deletions in three asymptomatic families.
Journal of medical geneticsA roadmap for a patient-centred approach to Pompe disease management.
Journal of neurologyProtocol for in vivo analysis of muscle function in porcine models for muscular dystrophies.
STAR protocolsPrognostic value of right ventricular-pulmonary artery coupling in patients with muscular dystrophies.
Scientific reportsPotential pitfalls in the differential diagnosis of myositis versus hereditary myopathies.
Clinical and experimental rheumatologyThe natural history of Becker muscular dystrophy: A systematic literature review.
Journal of neuromuscular diseasesDiagnostic Value of Muscle MRI in a Case of Very Late-Onset Becker Muscular Dystrophy.
Clinical neuroradiology[Chinese expert consensus on the diagnosis and treatment of Becker muscular dystrophy].
Zhonghua nei ke za zhiEffectiveness of aquatic therapy on balance and functionality in children with Duchenne and Becker muscular dystrophy : a prospective controlled pilot study.
Developmental neurorehabilitationRisk Factors for Falls in Older Depressed Adults Treated with Bupropion: An Analysis of the OPTIMUM Randomized Clinical Trial.
Journal of general internal medicineBrain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment.
GenesMuscle Membrane Permeability Determined by 31P-MRS and DT-MRI as a Biomarker for the Progression of Becker Muscular Dystrophy.
NMR in biomedicineRole of Cardiovascular Magnetic Resonance in Diagnosis and Management of Muscular Dystrophies.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance[Expert consensus on respiratory rehabilitation strategies for Duchenne muscular dystrophy (2026)].
Zhonghua er ke za zhi = Chinese journal of pediatricsExpanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus-Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies.
Muscle & nerveBladder dysfunction in Duchenne muscular dystrophy: A narrative review.
Journal of pediatric urologyMuscle involvement in women carrying pathogenic DMD gene variants: A 6.5-year follow-up study.
Journal of neuromuscular diseasesA new dystrophin-deficient rat model mirroring exon skipping in patients with DMD exon 45 deletions.
Disease models & mechanismsBecker muscular dystrophy (BMD) is caused by a dystrophin missense mutation in the original family of Becker and Kiener.
Neuromuscular disorders : NMDGenetics and pathophysiology of Duchenne muscular dystrophy.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieStepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy.
The application of clinical geneticsComprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy.
European journal of neurologyPrakriti and genetic profiling in Duchenne/Becker muscular dystrophy: An Ayurgenomic appraisal towards personalized care.
Journal of Ayurveda and integrative medicineDystrophinopathy in ACTION: The first 500 males enrolled in the Advanced Cardiac Therapies Improving Outcomes Network prospective dystrophinopathy registry.
Neuromuscular disorders : NMDCharacterization of Gait Kinematics and Muscle Function in Becker Muscular Dystrophy Pigs: a pilot study.
bioRxiv : the preprint server for biologyA Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.
Annals of neurologyCardiomyopathy Associated with Subclinical Becker Muscular Dystrophy in a Patient Presenting with Anesthesia-induced Rhabdomyolysis.
Internal medicine (Tokyo, Japan)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.
BMJ openAutomated Classification of Neuromuscular Diseases Using Thigh Muscle MRI With Model Interpretations.
Journal of cachexia, sarcopenia and muscleGenetic Causes of Hereditary Myopathies in a Cohort of Male Patients: Molecular Diagnosis in Myopathies.
The journal of applied laboratory medicineTranslational progress in the development of pharmacotherapies for Duchenne muscular dystrophy.
Regenerative medicineSpectrum of DMD gene mutations in 507 patients: a retrospective genotype-phenotype study using next-generation sequencing.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieSkeletal Muscle Membrane Permeability Markers Derived From 31P-MRS May Reflect Disease Activity in Becker Muscular Dystrophy.
NMR in biomedicineReduced Muscle Force in Dystrophic DMDΔ52 Pigs Is Incompletely Restored by Systemic Transcript Reframing (DMDΔ51-52).
Journal of cachexia, sarcopenia and muscleIntramuscular and Intravenous AAV-Mediated Gene Delivery in Mouse Models.
Methods in molecular biology (Clifton, N.J.)Quantitative Evaluation of Dystrophin Expression Using SDS-PAGE Western Blot Methods.
Methods in molecular biology (Clifton, N.J.)Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the DMD Gene.
Methods in molecular biology (Clifton, N.J.)Combining PCR to detect junction fragments and deleted exons in the prenatal diagnosis of BMD can effectively identify maternal cell contamination.
Frontiers in medicineThe rise of rat models for Duchenne muscular dystrophy and therapeutic evaluations.
Skeletal muscleA novel partial mRNA-derived duplication of the DMD gene identified in NGS carrier screening.
Journal of geneticsImpact of functional status in patients with muscular dystrophy-associated cardiomyopathy on survival after heart transplantation.
Expert review of cardiovascular therapySensitivity of Different Clinical Outcome Measures in Assessing Adults With Becker Muscular Dystrophy: A 3-Year Natural History Study.
NeurologyEpicardial ablation of ventricular tachycardia in a patient with dilated cardiomyopathy due to Becker muscular dystrophy: a case report.
European heart journal. Case reportsDisease-specific genetic diagnostic strategies for muscle diseases unresolved by short-read sequencing.
Journal of human geneticsRecurrent nonsense p.Trp3416* variant in the DMD gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlations.
Journal of neuromuscular diseasesPatient demographics, clinical characteristics and genetic mutations of DMD and BMD patients in Qatar Epidemiological and genetic profile of Duchenne muscular dystrophy and Becker muscular dystrophy patients in Qatar: a retrospective cohort study.
Frontiers in pediatricsSafety and Efficacy of Givinostat for Patients with Muscular Dystrophy: A Systematic Review.
PharmacologyDecreased β-cell function in a case with Becker muscular dystrophy accompanied by post-transplant diabetes.
Endocrinology, diabetes & metabolism case reportsEvidence Regarding Duchenne Muscular Dystrophy Newborn Screening.
PediatricsLongitudinal Changes of Motor Function in Becker Muscular Dystrophy.
Neurology. GeneticsComparative Transcriptomic Profiling in Patients Affected by Duchenne and Becker Muscular Dystrophies: A Focus on ECM Genes Dysregulation.
International journal of molecular sciencesIn Vivo Evaluation of Single- and Multi-Exon-Skipping in mdx52 Mice.
Methods in molecular biology (Clifton, N.J.)Systemic Injection of Peptide-PMOs into Humanized DMD Mice and Detection by RT-PCR and ELISA.
Methods in molecular biology (Clifton, N.J.)Skipping of Duplicated Dystrophin Exons: In Vitro Induction and Assessment.
Methods in molecular biology (Clifton, N.J.)Creation of DMD Muscle Cell Model Using CRISPR-Cas9 Genome Editing to Test the Efficacy of Antisense-Mediated Exon Skipping.
Methods in molecular biology (Clifton, N.J.)Direct Reprogramming of Human DMD Fibroblasts into Myotubes for In Vitro Evaluation of Antisense-Mediated Exon Skipping and Exons 45-55 Skipping Accompanied by Rescue of Dystrophin Expression.
Methods in molecular biology (Clifton, N.J.)Quantitative Evaluation of Exon Skipping in Immortalized Muscle Cells in Vitro.
Methods in molecular biology (Clifton, N.J.)Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.
Methods in molecular biology (Clifton, N.J.)An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.
Methods in molecular biology (Clifton, N.J.)Serum titin/creatinine ratio as a biomarker for discriminating disease severity in Duchenne and Becker muscular dystrophies.
Frontiers in neurologyMolecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis.
Journal of neuromuscular diseasesUbiquitination-targeted therapies improve BMD iPSC myogenic cell engraftment and dystrophin expression in vivo.
Molecular therapy. Methods & clinical developmentApplication of long-read sequencing in the diagnosis of Duchenne/Becker muscular dystrophy: unveiling complex structural variations and deep intronic mutations.
Italian journal of pediatricsEquity in neuromuscular research: a 20-year analysis of race, ethnicity, sex, and age representation.
Journal of neurologyContrasting Becker and Duchenne muscular dystrophy serum biomarker candidates by using data independent acquisition LC-MS/MS.
Skeletal muscleCharacterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines.
Journal of neurologyA multi-sensor approach to improve interpretability of the 6-min walk test as an outcome in muscular dystrophies: an observational study.
Brain communicationsA Phase 1, Double-Blind, Placebo-Controlled Trial of Sevasemten (EDG-5506), a Selective Modulator of Fast Skeletal Muscle Contraction, in Healthy Volunteers and Adults With Becker Muscular Dystrophy.
Muscle & nerveImpact of Becker muscular dystrophy on gait patterns: Insights from biomechanical analysis.
Gait & postureRare variant of Becker muscular dystrophy: The role of a cardiomyopathy mindset in an advanced-age patient.
Kardiologia polskaEarly-Onset Facial Weakness: Evaluation and Surgical Treatment of Facioscapulohumeral Muscular Disease.
The Journal of craniofacial surgerySerum Creatine Kinase and Transaminase Levels in Duchenne and Becker Muscular Dystrophies.
Muscle & nerveAge-progressive stratification of Becker muscular dystrophy patients: a focus on muscle biopsy fibrosis, inflammation and capillary network.
Life sciencesElectroconvulsive Therapy for Catatonia in a Patient With Schizophrenia Comorbid With Becker Muscular Dystrophy: A Case Report.
The journal of ECTSpecificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy.
Clinical geneticsFemales with X-Linked Muscle Disorders: an underestimated patient population.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyCardiac Involvement in Becker Muscular Dystrophy: Insights from Echocardiographic Analysis.
Journal of child neurologyMachine learning-based radiomics using MRI to differentiate early-stage Duchenne and Becker muscular dystrophy in children.
BMC musculoskeletal disordersUniversal Proteomic Signature After Exercise-Induced Muscle Injury in Muscular Dystrophies.
Annals of clinical and translational neurologyBecker muscular dystrophy mice showed site-specific decay of type IIa fibers with capillary change in skeletal muscle.
eLifeIdentification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report.
Journal of medical case reportsUnderstanding rare variant contributions to autism: lessons from dystrophin-deficient model.
NPJ genomic medicineMulti-Parametric Quantitative MRI in the Early Differential Diagnosis of Ambulatory Children With Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.
Journal of magnetic resonance imaging : JMRIThe Incidence of Volatile Anesthesia Porcine Stress Syndrome in Pigs (Sus scrofa domesticus) Gives Implications for Physiology during Anesthesia.
Journal of the American Association for Laboratory Animal Science : JAALASBecker Muscular Dystrophy and Nephrotic-Range Proteinuria: Chance or True Association?
British journal of hospital medicine (London, England : 2005)Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns.
Human geneticsInflammation clashing onto myocardial susceptibility: a tale of two rare diseases-a case report.
European heart journal. Case reportsInterleukin-17B is a new biomarker of human muscle regeneration in dystrophinopathies.
Brain : a journal of neurology[A case of Becker muscular dystrophy in a woman with skewed X-chromosome inactivation].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaA Dual Diagnosis of Okur-Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy.
Brain and behaviorLabel-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins.
Scientific reportsAI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.
GenesFacioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report.
Frontiers in geneticsA new method to evaluate staircase phenomenon in skeletal muscle using piezoelectric sensor.
Clinical neurophysiology practiceNavigating adulthood: Exploring the transition needs of adolescents and young adults affected by Duchenne or Becker muscular dystrophy.
PloS oneThe Unexplored Role of Connexin Hemichannels in Promoting Facioscapulohumeral Muscular Dystrophy Progression.
International journal of molecular sciencesExpanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.
Biomedicines[Pediatric cardiac allograft transplantation: a clinicopathological study of twelve recipient hearts].
Zhonghua bing li xue za zhi = Chinese journal of pathologyCharacterization of Dystrophin Dp71 Expression and Interaction Partners in Embryonic Brain Development: Implications for Duchenne/Becker Muscular Dystrophy.
Molecular neurobiology[Physical medical rehabilitation of patients with dystrophinopathies: dynamics of the disease's course considering clinical anthropometric indicators].
Voprosy kurortologii, fizioterapii, i lechebnoi fizicheskoi kulturyClinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.
Neurology. GeneticsGenomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants.
Journal, genetic engineering & biotechnologyUnveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis.
Journal of medical geneticsMethylphenidate treatment of a Chinese boy with Becker muscular dystrophy combined with attention deficit hyperactivity disorder: a case report.
Frontiers in neuroscienceManagement of Cardiac Involvement in Becker Muscular Dystrophy: A Case Report.
CureusMulti-parameter quantitative magnetic resonance imaging for early detecting skeletal muscle involvement and predicting functional decline in children with Becker muscular dystrophy.
Pediatric radiologyQuality of life and caregiving burden associated with parenting a person with Duchenne/Becker muscular dystrophy in Poland.
Orphanet journal of rare diseasesDr. Peter Emil Becker and the Third Reich: Correspondence.
American journal of medical genetics. Part APrevalence of Neutralizing Antibodies Against AAV Serotypes 2 and 9 in Healthy Participants from Multiple Centers Across China and Patients with DMD/BMD.
Human gene therapyAn Updated Analysis of Exon-Skipping Applicability for Duchenne Muscular Dystrophy Using the UMD-DMD Database.
GenesDMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.
Open medicine (Warsaw, Poland)Serum protein and imaging biomarkers after intermittent steroid treatment in muscular dystrophy.
Scientific reportsUrinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy.
Clinica chimica acta; international journal of clinical chemistryBiophysical characterization of the dystrophin C-terminal domain: Dystrophin interacts differentially with dystrobrevin isoforms.
The Journal of biological chemistryA Review of Muscular Dystrophies.
Anesthesia progressNatural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Brain : a journal of neurologyProgressive cardiomyopathy with intercalated disc disorganization in a rat model of Becker dystrophy.
EMBO reportsDeletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model.
Skeletal muscleCardiac MRI in Duchenne and Becker Muscular Dystrophy.
Annals of Indian Academy of NeurologyIntragenic dystrophin (DMD) duplication variant in Entlebucher Mountain Dogs with Duchenne muscular dystrophy.
Animal geneticsThe cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.
Human genomicsMuscular dystrophy patients show low exercise-induced blood flow in muscles with normal strength.
Annals of clinical and translational neurologyClinical Diagnosis and Genetic Analysis of Children With Muscular Dystrophies.
Clinical pediatricsSingle-Nucleus RNA Sequencing Unravels Early Mechanisms of Human Becker Muscular Dystrophy.
Annals of neurologyComprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Orphanet journal of rare diseasesWhat is in the Myopathy Literature?
Journal of clinical neuromuscular diseaseFurther evidence for an attenuated phenotype of in-frame DMD deletions affecting the central rod domain of dystrophin around exon 48.
American journal of medical genetics. Part AGeneration and characterization of a mouse model of Becker muscular dystrophy with a deletion of Dmd exons 52 to 55.
Disease models & mechanismsAcute hepatotoxicity of intravenous amiodarone in a Becker muscular dystrophy patient with decompensated heart failing and ABCB4 gene mutation: as assessed for causality using the updated RUCAM.
Journal of cardiothoracic surgeryThe Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data.
Journal of neuromuscular diseasesSplit intein-mediated protein trans-splicing to express large dystrophins.
NatureElectrophysiologic and cardiovascular manifestations of Duchenne and Becker muscular dystrophies.
Heart rhythmDeletion of miR-146a enhances therapeutic protein restoration in model of dystrophin exon skipping.
Molecular therapy. Nucleic acidsClassification of Muscular Dystrophies from MR Images Improves Using the Swin Transformer Deep Learning Model.
Bioengineering (Basel, Switzerland)Test-retest reliability and follow-up of muscle magnetic resonance elastography in adults with and without muscle diseases.
Journal of cachexia, sarcopenia and muscleA retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?
Journal of genetic counselingThe Development of Robust Antibodies to Sarcospan, a Dystrophin- and Integrin-Associated Protein, for Basic and Translational Research.
International journal of molecular sciencesSubspecialty Health Care Utilization in Pediatric Patients With Muscular Dystrophy in the United States.
Neurology. Clinical practiceInvestigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.
Neurogenetics[Expert consensus on the genetic counseling for Dystrophinopathies].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCorrigendum to "Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene" Neuromuscular Disorders 39 (2024) 5-9.
Neuromuscular disorders : NMDAsymmetric Myocardial Involvement as an Early Indicator of Cardiac Dysfunction in Pediatric Dystrophinopathies: A Study on Cardiac Magnetic Resonance (CMR) Parametric Mappings.
Pediatric cardiologyA Case Report of Becker Muscular Dystrophy and Stroke Who Successfully Regained Mobility With Robot-Assisted Gait Training.
American journal of physical medicine & rehabilitationGenetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors.
Journal of genetic counselingLong-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene.
Neuromuscular disorders : NMDNoninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage.
Prenatal diagnosis[Efficiency of CNV-seq in detecting fetal DMD gene deletion or duplication in prenatal diagnosis].
Zhonghua fu chan ke za zhiDiffusion tensor imaging reveals subclinical alterations in muscles of patients with Becker muscular dystrophy.
The British journal of radiologyThe Importance of a PM&R Consultation for Becker Muscular Dystrophy Patients Admitted with Cardiomyopathy.
Case reports in cardiologyA novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report.
HeliyonLessons for future clinical trials in adults with Becker muscular dystrophy: Disease progression detected by muscle magnetic resonance imaging, clinical and patient-reported outcome measures.
European journal of neurologyClinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.
Orphanet journal of rare diseasesDe 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 sciencesGC-MS analysis of 4-hydroxyproline: elevated proline hydroxylation in metformin-associated lactic acidosis and metformin-treated Becker muscular dystrophy patients.
Amino acidsOn genotype-phenotype relationship of dystrophinopathies among Iranian population.
Current journal of neurology[Chinese guidelines on the diagnosis of dystrophinopathy].
Zhonghua yi xue za zhiDraft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease.
Journal of neuromuscular diseasesEvolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study.
Neuromuscular disorders : NMDImaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration.
Scientific reportsGeneration of human induced pluripotent stem cell line derived from Becker muscular dystrophy patient with CRISPR/Cas9-mediated correction of DMD gene mutation.
Stem cell researchA female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family.
BMC medical genomicsIdentification and characterization of dystrophin-locus-derived testis-specific protein: A testis-specific gene within the intronic region of the rat dystrophin gene.
The Journal of reproduction and developmentDiverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era.
Pediatric cardiologyDuchenne and Becker muscular dystrophy: Cellular mechanisms, image analysis, and computational models: A review.
Cytoskeleton (Hoboken, N.J.)Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.
European journal of medical researchCharacterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study.
Journal of neuromuscular diseasesBrothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report.
SAGE open medical case reportsEmpowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies.
Journal of community geneticsLate-onset Becker muscular dystrophy with distal muscle weakness and rimmed vacuoles.
Muscle & nerveSocial cognition in two brothers with Becker muscular dystrophy: an exploratory study revealing divergent behavioral phenotypes.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyA novel biomarker of fibrofatty replacement in dystrophinopathies identified by integrating transcriptome, magnetic resonance imaging, and pathology data.
Journal of cachexia, sarcopenia and muscleEffectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis.
Journal of neurology, neurosurgery, and psychiatrySelf- and Caregiver-Reported Participation, Quality of Life, and Related Mood and Behavior Challenges in People Living With Dystrophinopathies.
Pediatric neurologyDeep-seated dermatophytosis caused by Trichophyton rubrum in patient with Becker muscular dystrophy.
Journal de mycologie medicalePersistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model.
Molecular therapy. Methods & clinical developmentElectrocardiographic Changes in Jordanian Patients With Becker Muscular Dystrophy.
CureusMutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients.
F1000ResearchDiversity of mutations in the dystrophin gene and details of muscular lesions in porcine dystrophinopathies.
Veterinary pathologyEffectiveness of a 5-Week Virtual Reality Telerehabilitation Program for Children With Duchenne and Becker Muscular Dystrophy: Prospective Quasi-Experimental Study.
JMIR serious gamesFindings from the Longitudinal CINRG Becker Natural History Study.
Journal of neuromuscular diseasesDevelopment and Validation of an Outpatient Clinical Predictive Score for the Diagnosis of Duchenne Muscular Dystrophy/Becker Muscular Dystrophy in Children Aged 2-18 Years.
Annals of Indian Academy of NeurologyCryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophy.
Journal of clinical laboratory analysisCognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyRyanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.
Journal of cachexia, sarcopenia and muscleBrain Abnormalities in Becker Muscular Dystrophy: Evaluation by Voxel-Based DTI and Morphometric Analysis.
AJNR. American journal of neuroradiologyNatural history of Becker muscular dystrophy: a multicenter study of 225 patients.
Annals of clinical and translational neurologyAppendicular lean mass index changes in patients with Duchenne muscular dystrophy and Becker muscular dystrophy.
Journal of cachexia, sarcopenia and muscleGrowth 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 USAMicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders.
Neuromolecular medicineThe frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.
Frontiers in pediatricsCase report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy.
Frontiers in geneticsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.
- A roadmap for a patient-centred approach to Pompe disease management.
- [Expert consensus on respiratory rehabilitation strategies for Duchenne muscular dystrophy (2026)].
- A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.
- Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.
- Neonatal screening for Duchenne muscular dystrophy in eastern China: a closed prospective study.
- Molecular Mechanisms and Therapeutic Strategies in Heart Failure Due to Dystrophin Deficiency: A Comprehensive Review.
- Response to the Letter Regarding "If Becker Muscular Dystrophy Initially Manifests with Heart Disease and Rhabdomyolysis, Neurological Work-up is Imperative".
- If Becker Muscular Dystrophy Initially Manifests with Heart Disease and Rhabdomyolysis, Neurological Work-up Is Imperative.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98895(Orphanet)
- OMIM OMIM:300376(OMIM)
- MONDO:0010311(MONDO)
- GARD:5900(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q2484592(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.
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