Raras
Buscar doenças, sintomas, genes...
Distrofia muscular, tipo Becker
ORPHA:98895CID-10 · G71.0CID-11 · 8C70.0OMIM 300376DOENÇA RARA

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).

Mantido por Agente Raras·Colaborar como especialista →

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).

Pesquisas ativas
36 ensaios
488 total registrados no ClinicalTrials.gov
Publicações científicas
1.954 artigos
Último publicado: 2026 Mar 23
Medicamentos
1 registrados
ATALUREN

Tem tratamento?

1 medicamento registrado
Ver detalhes, fases e interações →
ATALUREN

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
2.0
Europe
Início
Adolescent
+ adult, childhood, elderly
🏥
SUS: Cobertura mínimaScore: 20%
CID-10: G71.0
🇧🇷Dados SUS / DATASUS2024
2.340
internações/ano
R$ 6.780
custo médio/internação
ESTADOS COM MAIS INTERNAÇÕES
SPRJMGRSPR
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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

Partes do corpo afetadas

💪
Músculos
7 sintomas
🦴
Ossos e articulações
3 sintomas
🫃
Digestivo
2 sintomas
❤️
Coração
2 sintomas
🫘
Rins
1 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

90%prev.
Distúrbio da marcha
Muito frequente (99-80%)
90%prev.
Concentração elevada de creatina quinase circulante
Muito frequente (99-80%)
90%prev.
Mialgia
Muito frequente (99-80%)
90%prev.
Mioglobinúria
Muito frequente (99-80%)
90%prev.
Intolerância ao exercício
Muito frequente (99-80%)
90%prev.
Dificuldade para subir escadas
Muito frequente (99-80%)
25sintomas
Muito frequente (7)
Frequente (6)
Ocasional (3)
Sem dados (9)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.

Distúrbio da marchaGait disturbance
Muito frequente (99-80%)90%
Concentração elevada de creatina quinase circulanteElevated circulating creatine kinase concentration
Muito frequente (99-80%)90%
MialgiaMyalgia
Muito frequente (99-80%)90%
MioglobinúriaMyoglobinuria
Muito frequente (99-80%)90%
Intolerância ao exercícioExercise intolerance
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1.954PubMed
Últimos 10 anos200publicações
Pico202585 papers
Linha do tempo
2026Hoje · 2026🧪 1995Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: X-linked recessive.

DMDDystrophinDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane, sarcolemmaCytoplasm, cytoskeletonPostsynaptic cell membrane

VIAS BIOLÓGICAS (3)
Formation of the dystrophin-glycoprotein complex (DGC)Non-integrin membrane-ECM interactionsStriated Muscle Contraction
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
44.5 TPM
Artéria tibial
28.2 TPM
Aorta
27.2 TPM
Cólon sigmoide
25.6 TPM
Músculo esquelético
23.1 TPM
OUTRAS DOENÇAS (6)
Duchenne muscular dystrophyBecker muscular dystrophydilated cardiomyopathy 3Bsymptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
HGNC:2928UniProt:P11532

Medicamentos e terapias

ATALURENPhase 3

Mecanismo: 80S Ribosome modulator

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

9,917 variantes patogênicas registradas no ClinVar.

🧬 DMD: NM_004006.3(DMD):c.10922-18G>A ()
🧬 DMD: NM_004006.3(DMD):c.5047A>T (p.Thr1683Ser) ()
🧬 DMD: NM_004006.3(DMD):c.8240C>T (p.Ala2747Val) ()
🧬 DMD: NM_004006.3(DMD):c.4448T>C (p.Met1483Thr) ()
🧬 DMD: NM_004006.3(DMD):c.3603+13_3603+14insG ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 2,167 variantes classificadas pelo ClinVar.

1409
758
Patogênica (65.0%)
VUS (35.0%)
VARIANTES MAIS SIGNIFICATIVAS
DMD: NM_004006.3(DMD):c.7326_7327insC (p.Thr2443fs) [Pathogenic]
DMD: NM_004006.3(DMD):c.9224+14957C>T [Likely pathogenic]
DMD: NM_004006.3(DMD):c.4233+1G>C [Likely pathogenic]
DMD: NM_004006.3(DMD):c.3826G>T (p.Glu1276Ter) [Likely pathogenic]
DMD: NM_004006.3(DMD):c.9085-3579_9085-3566dup [Likely pathogenic]

Vias biológicas (Reactome)

3 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 32
2Fase 27
1Fase 13
·Pré-clínico9
Medicamentos catalogadosEnsaios clínicos· 1 medicamento · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Distrofia muscular, tipo Becker

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

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

NCT07467187 · Invasive Home Ventilation in DenmarkRecrutando
NCT06817382 · A Study to Investigate the Safety and Biodistribution of a S…Recrutando
PHASE1
NCT07287189 · Phase 2 Study of SAT-3247 in Pediatric Ambulatory PatientsRecrutando
PHASE2
NCT07127978 · A Study Evaluating the Real-World Experience of Givinostat i…Recrutando
NCT06839469 · Establishing Walking-related Digital Biomarkers in Rare Chil…Recrutando
NCT06280209 · A Phase 1/2 Study to Assess the Safety, Tolerability, Pharma…Recrutando
PHASE1, PHASE2
NCT07332013 · Urinary Titin Biomarker in DMDRecrutando
NA
NCT07515235 · DMD Gene Variants and Cardiac Dysfunction in Young Males Wit…Recrutando
NCT04626674 · A Gene Transfer Therapy Study to Evaluate the Safety of and …Recrutando
PHASE1
NCT07038824 · A Study in Participants With Duchenne Muscular Dystrophy Ame…Recrutando
PHASE1, PHASE2
NCT07037862 · A Study in Participants With Duchenne Muscular Dystrophy Ame…Recrutando
PHASE1, PHASE2
NCT05996003 · NS-089/NCNP-02-201 in Boys With Duchenne Muscular Dystrophy …Recrutando
PHASE2
NCT06692426 · Trial of Cell Based Therapy for DMDRecrutando
PHASE1
NCT07160634 · A Study of SGT-003 Gene Therapy in Ambulant Males With Duche…Recrutando
PHASE3
NCT06138639 · A Study of SGT-003 Gene Therapy in Duchenne Muscular Dystrop…Recrutando
PHASE1, PHASE2
NCT06564974 · Registry Study to Observe Long-term Safety of Vamorolone (AG…Recrutando
NCT07415837 · Evaluation of the Role of miR-1 in the Pathogenesis and as a…Recrutando
NA
NCT03882827 · Natural History of Duchenne Muscular DystrophyRecrutando
NCT06491927 · Long Term Follow-up for RGX-202Por convite
NCT06066580 · Open-Label Extension of EDG-5506 in Participants With Becker…Por convite
PHASE2

Outros ensaios clínicos

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
797 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 797

#1

Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.

Journal of neurology, neurosurgery, and psychiatry2026 Feb 27

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.

#2

A roadmap for a patient-centred approach to Pompe disease management.

Journal of neurology2026 Feb 14

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.

#3

[Expert consensus on respiratory rehabilitation strategies for Duchenne muscular dystrophy (2026)].

Zhonghua er ke za zhi = Chinese journal of pediatrics2026 Feb 02

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。.

#4

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.

Annals of neurology2026 Jan

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.

#5

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.

Molecular biology reports2026 Mar 19

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

Ver todas no PubMed

📚 EuropePMC872 artigos no totalmostrando 196

2026

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.

Molecular biology reports
2026

If Becker Muscular Dystrophy Initially Manifests with Heart Disease and Rhabdomyolysis, Neurological Work-up Is Imperative.

Internal medicine (Tokyo, Japan)
2026

Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.

Journal of neurology, neurosurgery, and psychiatry
2026

Becker muscular dystrophy in a pediatric patient: A case report.

The Nurse practitioner
2026

Total intravenous anesthesia for cardiac transplantation in a teenager with Becker muscular dystrophy: A case report.

Saudi journal of anaesthesia
2026

Test the grandfather! Incidental in-frame DMD deletions in three asymptomatic families.

Journal of medical genetics
2026

A roadmap for a patient-centred approach to Pompe disease management.

Journal of neurology
2026

Protocol for in vivo analysis of muscle function in porcine models for muscular dystrophies.

STAR protocols
2026

Prognostic value of right ventricular-pulmonary artery coupling in patients with muscular dystrophies.

Scientific reports
2026

Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies.

Clinical and experimental rheumatology
2026

The natural history of Becker muscular dystrophy: A systematic literature review.

Journal of neuromuscular diseases
2026

Diagnostic Value of Muscle MRI in a Case of Very Late-Onset Becker Muscular Dystrophy.

Clinical neuroradiology
2026

[Chinese expert consensus on the diagnosis and treatment of Becker muscular dystrophy].

Zhonghua nei ke za zhi
2026

Effectiveness of aquatic therapy on balance and functionality in children with Duchenne and Becker muscular dystrophy : a prospective controlled pilot study.

Developmental neurorehabilitation
2026

Risk Factors for Falls in Older Depressed Adults Treated with Bupropion: An Analysis of the OPTIMUM Randomized Clinical Trial.

Journal of general internal medicine
2025

Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment.

Genes
2026

Muscle Membrane Permeability Determined by 31P-MRS and DT-MRI as a Biomarker for the Progression of Becker Muscular Dystrophy.

NMR in biomedicine
2026

Role 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
2026

[Expert consensus on respiratory rehabilitation strategies for Duchenne muscular dystrophy (2026)].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2026

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus-Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies.

Muscle &amp; nerve
2026

Bladder dysfunction in Duchenne muscular dystrophy: A narrative review.

Journal of pediatric urology
2026

Muscle involvement in women carrying pathogenic DMD gene variants: A 6.5-year follow-up study.

Journal of neuromuscular diseases
2026

A new dystrophin-deficient rat model mirroring exon skipping in patients with DMD exon 45 deletions.

Disease models &amp; mechanisms
2026

Becker muscular dystrophy (BMD) is caused by a dystrophin missense mutation in the original family of Becker and Kiener.

Neuromuscular disorders : NMD
2025

Genetics and pathophysiology of Duchenne muscular dystrophy.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2025

Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy.

The application of clinical genetics
2025

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy.

European journal of neurology
2026

Prakriti and genetic profiling in Duchenne/Becker muscular dystrophy: An Ayurgenomic appraisal towards personalized care.

Journal of Ayurveda and integrative medicine
2026

Dystrophinopathy in ACTION: The first 500 males enrolled in the Advanced Cardiac Therapies Improving Outcomes Network prospective dystrophinopathy registry.

Neuromuscular disorders : NMD
2025

Characterization of Gait Kinematics and Muscle Function in Becker Muscular Dystrophy Pigs: a pilot study.

bioRxiv : the preprint server for biology
2026

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.

Annals of neurology
2025

Cardiomyopathy Associated with Subclinical Becker Muscular Dystrophy in a Patient Presenting with Anesthesia-induced Rhabdomyolysis.

Internal medicine (Tokyo, Japan)
2025

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 open
2025

Automated Classification of Neuromuscular Diseases Using Thigh Muscle MRI With Model Interpretations.

Journal of cachexia, sarcopenia and muscle
2026

Genetic Causes of Hereditary Myopathies in a Cohort of Male Patients: Molecular Diagnosis in Myopathies.

The journal of applied laboratory medicine
2025

Translational progress in the development of pharmacotherapies for Duchenne muscular dystrophy.

Regenerative medicine
2025

Spectrum 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 pediatrie
2025

Skeletal Muscle Membrane Permeability Markers Derived From 31P-MRS May Reflect Disease Activity in Becker Muscular Dystrophy.

NMR in biomedicine
2025

Reduced Muscle Force in Dystrophic DMDΔ52 Pigs Is Incompletely Restored by Systemic Transcript Reframing (DMDΔ51-52).

Journal of cachexia, sarcopenia and muscle
2026

Intramuscular and Intravenous AAV-Mediated Gene Delivery in Mouse Models.

Methods in molecular biology (Clifton, N.J.)
2026

Quantitative Evaluation of Dystrophin Expression Using SDS-PAGE Western Blot Methods.

Methods in molecular biology (Clifton, N.J.)
2026

Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the DMD Gene.

Methods in molecular biology (Clifton, N.J.)
2025

Combining PCR to detect junction fragments and deleted exons in the prenatal diagnosis of BMD can effectively identify maternal cell contamination.

Frontiers in medicine
2025

The rise of rat models for Duchenne muscular dystrophy and therapeutic evaluations.

Skeletal muscle
2025

A novel partial mRNA-derived duplication of the DMD gene identified in NGS carrier screening.

Journal of genetics
2025

Impact of functional status in patients with muscular dystrophy-associated cardiomyopathy on survival after heart transplantation.

Expert review of cardiovascular therapy
2025

Sensitivity of Different Clinical Outcome Measures in Assessing Adults With Becker Muscular Dystrophy: A 3-Year Natural History Study.

Neurology
2025

Epicardial ablation of ventricular tachycardia in a patient with dilated cardiomyopathy due to Becker muscular dystrophy: a case report.

European heart journal. Case reports
2025

Disease-specific genetic diagnostic strategies for muscle diseases unresolved by short-read sequencing.

Journal of human genetics
2025

Recurrent nonsense p.Trp3416* variant in the DMD gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlations.

Journal of neuromuscular diseases
2025

Patient 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 pediatrics
2025

Safety and Efficacy of Givinostat for Patients with Muscular Dystrophy: A Systematic Review.

Pharmacology
2025

Decreased β-cell function in a case with Becker muscular dystrophy accompanied by post-transplant diabetes.

Endocrinology, diabetes &amp; metabolism case reports
2025

Evidence Regarding Duchenne Muscular Dystrophy Newborn Screening.

Pediatrics
2025

Longitudinal Changes of Motor Function in Becker Muscular Dystrophy.

Neurology. Genetics
2025

Comparative Transcriptomic Profiling in Patients Affected by Duchenne and Becker Muscular Dystrophies: A Focus on ECM Genes Dysregulation.

International journal of molecular sciences
2025

In Vivo Evaluation of Single- and Multi-Exon-Skipping in mdx52 Mice.

Methods in molecular biology (Clifton, N.J.)
2025

Systemic Injection of Peptide-PMOs into Humanized DMD Mice and Detection by RT-PCR and ELISA.

Methods in molecular biology (Clifton, N.J.)
2025

Skipping of Duplicated Dystrophin Exons: In Vitro Induction and Assessment.

Methods in molecular biology (Clifton, N.J.)
2025

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.)
2025

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.)
2025

Quantitative Evaluation of Exon Skipping in Immortalized Muscle Cells in Vitro.

Methods in molecular biology (Clifton, N.J.)
2025

Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.

Methods in molecular biology (Clifton, N.J.)
2025

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.)
2025

Serum titin/creatinine ratio as a biomarker for discriminating disease severity in Duchenne and Becker muscular dystrophies.

Frontiers in neurology
2025

Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis.

Journal of neuromuscular diseases
2025

Ubiquitination-targeted therapies improve BMD iPSC myogenic cell engraftment and dystrophin expression in vivo.

Molecular therapy. Methods &amp; clinical development
2025

Application of long-read sequencing in the diagnosis of Duchenne/Becker muscular dystrophy: unveiling complex structural variations and deep intronic mutations.

Italian journal of pediatrics
2025

Equity in neuromuscular research: a 20-year analysis of race, ethnicity, sex, and age representation.

Journal of neurology
2025

Contrasting Becker and Duchenne muscular dystrophy serum biomarker candidates by using data independent acquisition LC-MS/MS.

Skeletal muscle
2025

Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines.

Journal of neurology
2025

A multi-sensor approach to improve interpretability of the 6-min walk test as an outcome in muscular dystrophies: an observational study.

Brain communications
2025

A 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 &amp; nerve
2025

Impact of Becker muscular dystrophy on gait patterns: Insights from biomechanical analysis.

Gait &amp; posture
2025

Rare variant of Becker muscular dystrophy: The role of a cardiomyopathy mindset in an advanced-age patient.

Kardiologia polska
2025

Early-Onset Facial Weakness: Evaluation and Surgical Treatment of Facioscapulohumeral Muscular Disease.

The Journal of craniofacial surgery
2025

Serum Creatine Kinase and Transaminase Levels in Duchenne and Becker Muscular Dystrophies.

Muscle &amp; nerve
2025

Age-progressive stratification of Becker muscular dystrophy patients: a focus on muscle biopsy fibrosis, inflammation and capillary network.

Life sciences
2025

Electroconvulsive Therapy for Catatonia in a Patient With Schizophrenia Comorbid With Becker Muscular Dystrophy: A Case Report.

The journal of ECT
2025

Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy.

Clinical genetics
2025

Females with X-Linked Muscle Disorders: an underestimated patient population.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
2025

Cardiac Involvement in Becker Muscular Dystrophy: Insights from Echocardiographic Analysis.

Journal of child neurology
2025

Machine learning-based radiomics using MRI to differentiate early-stage Duchenne and Becker muscular dystrophy in children.

BMC musculoskeletal disorders
2025

Universal Proteomic Signature After Exercise-Induced Muscle Injury in Muscular Dystrophies.

Annals of clinical and translational neurology
2025

Becker muscular dystrophy mice showed site-specific decay of type IIa fibers with capillary change in skeletal muscle.

eLife
2025

Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report.

Journal of medical case reports
2025

Understanding rare variant contributions to autism: lessons from dystrophin-deficient model.

NPJ genomic medicine
2025

Multi-Parametric Quantitative MRI in the Early Differential Diagnosis of Ambulatory Children With Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.

Journal of magnetic resonance imaging : JMRI
2025

The 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 : JAALAS
2025

Becker Muscular Dystrophy and Nephrotic-Range Proteinuria: Chance or True Association?

British journal of hospital medicine (London, England : 2005)
2025

Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns.

Human genetics
2025

Inflammation clashing onto myocardial susceptibility: a tale of two rare diseases-a case report.

European heart journal. Case reports
2025

Interleukin-17B is a new biomarker of human muscle regeneration in dystrophinopathies.

Brain : a journal of neurology
2025

[A case of Becker muscular dystrophy in a woman with skewed X-chromosome inactivation].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

A 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 behavior
2025

Label-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins.

Scientific reports
2024

AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.

Genes
2024

Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report.

Frontiers in genetics
2025

A new method to evaluate staircase phenomenon in skeletal muscle using piezoelectric sensor.

Clinical neurophysiology practice
2025

Navigating adulthood: Exploring the transition needs of adolescents and young adults affected by Duchenne or Becker muscular dystrophy.

PloS one
2025

The Unexplored Role of Connexin Hemichannels in Promoting Facioscapulohumeral Muscular Dystrophy Progression.

International journal of molecular sciences
2024

Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.

Biomedicines
2025

[Pediatric cardiac allograft transplantation: a clinicopathological study of twelve recipient hearts].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2025

Characterization of Dystrophin Dp71 Expression and Interaction Partners in Embryonic Brain Development: Implications for Duchenne/Becker Muscular Dystrophy.

Molecular neurobiology
2024

[Physical medical rehabilitation of patients with dystrophinopathies: dynamics of the disease's course considering clinical anthropometric indicators].

Voprosy kurortologii, fizioterapii, i lechebnoi fizicheskoi kultury
2025

Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.

Neurology. Genetics
2024

Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants.

Journal, genetic engineering &amp; biotechnology
2025

Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis.

Journal of medical genetics
2024

Methylphenidate treatment of a Chinese boy with Becker muscular dystrophy combined with attention deficit hyperactivity disorder: a case report.

Frontiers in neuroscience
2024

Management of Cardiac Involvement in Becker Muscular Dystrophy: A Case Report.

Cureus
2025

Multi-parameter quantitative magnetic resonance imaging for early detecting skeletal muscle involvement and predicting functional decline in children with Becker muscular dystrophy.

Pediatric radiology
2024

Quality of life and caregiving burden associated with parenting a person with Duchenne/Becker muscular dystrophy in Poland.

Orphanet journal of rare diseases
2025

Dr. Peter Emil Becker and the Third Reich: Correspondence.

American journal of medical genetics. Part A
2024

Prevalence of Neutralizing Antibodies Against AAV Serotypes 2 and 9 in Healthy Participants from Multiple Centers Across China and Patients with DMD/BMD.

Human gene therapy
2024

An Updated Analysis of Exon-Skipping Applicability for Duchenne Muscular Dystrophy Using the UMD-DMD Database.

Genes
2024

DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.

Open medicine (Warsaw, Poland)
2024

Serum protein and imaging biomarkers after intermittent steroid treatment in muscular dystrophy.

Scientific reports
2025

Urinary 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 chemistry
2024

Biophysical characterization of the dystrophin C-terminal domain: Dystrophin interacts differentially with dystrobrevin isoforms.

The Journal of biological chemistry
2024

A Review of Muscular Dystrophies.

Anesthesia progress
2025

Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.

Brain : a journal of neurology
2024

Progressive cardiomyopathy with intercalated disc disorganization in a rat model of Becker dystrophy.

EMBO reports
2024

Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model.

Skeletal muscle
2024

Cardiac MRI in Duchenne and Becker Muscular Dystrophy.

Annals of Indian Academy of Neurology
2024

Intragenic dystrophin (DMD) duplication variant in Entlebucher Mountain Dogs with Duchenne muscular dystrophy.

Animal genetics
2024

The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.

Human genomics
2024

Muscular dystrophy patients show low exercise-induced blood flow in muscles with normal strength.

Annals of clinical and translational neurology
2025

Clinical Diagnosis and Genetic Analysis of Children With Muscular Dystrophies.

Clinical pediatrics
2024

Single-Nucleus RNA Sequencing Unravels Early Mechanisms of Human Becker Muscular Dystrophy.

Annals of neurology
2024

Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.

Orphanet journal of rare diseases
2024

What is in the Myopathy Literature?

Journal of clinical neuromuscular disease
2025

Further 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 A
2025

Generation and characterization of a mouse model of Becker muscular dystrophy with a deletion of Dmd exons 52 to 55.

Disease models &amp; mechanisms
2024

Acute 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 surgery
2024

The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data.

Journal of neuromuscular diseases
2024

Split intein-mediated protein trans-splicing to express large dystrophins.

Nature
2025

Electrophysiologic and cardiovascular manifestations of Duchenne and Becker muscular dystrophies.

Heart rhythm
2024

Deletion of miR-146a enhances therapeutic protein restoration in model of dystrophin exon skipping.

Molecular therapy. Nucleic acids
2024

Classification of Muscular Dystrophies from MR Images Improves Using the Swin Transformer Deep Learning Model.

Bioengineering (Basel, Switzerland)
2024

Test-retest reliability and follow-up of muscle magnetic resonance elastography in adults with and without muscle diseases.

Journal of cachexia, sarcopenia and muscle
2025

A 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 counseling
2024

The Development of Robust Antibodies to Sarcospan, a Dystrophin- and Integrin-Associated Protein, for Basic and Translational Research.

International journal of molecular sciences
2024

Subspecialty Health Care Utilization in Pediatric Patients With Muscular Dystrophy in the United States.

Neurology. Clinical practice
2024

Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.

Neurogenetics
2024

[Expert consensus on the genetic counseling for Dystrophinopathies].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

Corrigendum 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 : NMD
2025

Asymmetric Myocardial Involvement as an Early Indicator of Cardiac Dysfunction in Pediatric Dystrophinopathies: A Study on Cardiac Magnetic Resonance (CMR) Parametric Mappings.

Pediatric cardiology
2024

A Case Report of Becker Muscular Dystrophy and Stroke Who Successfully Regained Mobility With Robot-Assisted Gait Training.

American journal of physical medicine &amp; rehabilitation
2025

Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors.

Journal of genetic counseling
2024

Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene.

Neuromuscular disorders : NMD
2024

Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage.

Prenatal diagnosis
2024

[Efficiency of CNV-seq in detecting fetal DMD gene deletion or duplication in prenatal diagnosis].

Zhonghua fu chan ke za zhi
2024

Diffusion tensor imaging reveals subclinical alterations in muscles of patients with Becker muscular dystrophy.

The British journal of radiology
2024

The Importance of a PM&R Consultation for Becker Muscular Dystrophy Patients Admitted with Cardiomyopathy.

Case reports in cardiology
2024

A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report.

Heliyon
2024

Lessons 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 neurology
2024

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.

Orphanet journal of rare diseases
2024

De 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 sciences
2024

GC-MS analysis of 4-hydroxyproline: elevated proline hydroxylation in metformin-associated lactic acidosis and metformin-treated Becker muscular dystrophy patients.

Amino acids
2023

On genotype-phenotype relationship of dystrophinopathies among Iranian population.

Current journal of neurology
2024

[Chinese guidelines on the diagnosis of dystrophinopathy].

Zhonghua yi xue za zhi
2024

Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease.

Journal of neuromuscular diseases
2024

Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study.

Neuromuscular disorders : NMD
2024

Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration.

Scientific reports
2024

Generation of human induced pluripotent stem cell line derived from Becker muscular dystrophy patient with CRISPR/Cas9-mediated correction of DMD gene mutation.

Stem cell research
2024

A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family.

BMC medical genomics
2024

Identification 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 development
2025

Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era.

Pediatric cardiology
2024

Duchenne and Becker muscular dystrophy: Cellular mechanisms, image analysis, and computational models: A review.

Cytoskeleton (Hoboken, N.J.)
2024

Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.

European journal of medical research
2024

Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study.

Journal of neuromuscular diseases
2024

Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report.

SAGE open medical case reports
2024

Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies.

Journal of community genetics
2024

Late-onset Becker muscular dystrophy with distal muscle weakness and rimmed vacuoles.

Muscle &amp; nerve
2024

Social 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 Neurophysiology
2024

A novel biomarker of fibrofatty replacement in dystrophinopathies identified by integrating transcriptome, magnetic resonance imaging, and pathology data.

Journal of cachexia, sarcopenia and muscle
2024

Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis.

Journal of neurology, neurosurgery, and psychiatry
2024

Self- and Caregiver-Reported Participation, Quality of Life, and Related Mood and Behavior Challenges in People Living With Dystrophinopathies.

Pediatric neurology
2024

Deep-seated dermatophytosis caused by Trichophyton rubrum in patient with Becker muscular dystrophy.

Journal de mycologie medicale
2023

Persistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model.

Molecular therapy. Methods &amp; clinical development
2023

Electrocardiographic Changes in Jordanian Patients With Becker Muscular Dystrophy.

Cureus
2022

Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients.

F1000Research
2024

Diversity of mutations in the dystrophin gene and details of muscular lesions in porcine dystrophinopathies.

Veterinary pathology
2023

Effectiveness of a 5-Week Virtual Reality Telerehabilitation Program for Children With Duchenne and Becker Muscular Dystrophy: Prospective Quasi-Experimental Study.

JMIR serious games
2024

Findings from the Longitudinal CINRG Becker Natural History Study.

Journal of neuromuscular diseases
2023

Development 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 Neurology
2023

Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophy.

Journal of clinical laboratory analysis
2024

Cognitive 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 Neurophysiology
2023

Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.

Journal of cachexia, sarcopenia and muscle
2023

Brain Abnormalities in Becker Muscular Dystrophy: Evaluation by Voxel-Based DTI and Morphometric Analysis.

AJNR. American journal of neuroradiology
2023

Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.

Annals of clinical and translational neurology
2023

Appendicular lean mass index changes in patients with Duchenne muscular dystrophy and Becker muscular dystrophy.

Journal of cachexia, sarcopenia and muscle
2024

Growth 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 USA
2023

MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders.

Neuromolecular medicine
2023

The 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 pediatrics
2023

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy.

Frontiers in genetics
Ver todos os 872 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Distrofia muscular, tipo Becker.

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 muscular, tipo Becker

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 login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.
    Journal of neurology, neurosurgery, and psychiatry· 2026· PMID 41760395mais citado
  2. A roadmap for a patient-centred approach to Pompe disease management.
    Journal of neurology· 2026· PMID 41689635mais citado
  3. [Expert consensus on respiratory rehabilitation strategies for Duchenne muscular dystrophy (2026)].
    Zhonghua er ke za zhi = Chinese journal of pediatrics· 2026· PMID 41539948mais citado
  4. A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.
    Annals of neurology· 2026· PMID 41261727mais citado
  5. Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.
    Molecular biology reports· 2026· PMID 41854802mais citado
  6. Neonatal screening for Duchenne muscular dystrophy in eastern China: a closed prospective study.
    Transl Pediatr· 2026· PMID 41982956recente
  7. Molecular Mechanisms and Therapeutic Strategies in Heart Failure Due to Dystrophin Deficiency: A Comprehensive Review.
    Rev Cardiovasc Med· 2026· PMID 41923738recente
  8. Response to the Letter Regarding "If Becker Muscular Dystrophy Initially Manifests with Heart Disease and Rhabdomyolysis, Neurological Work-up is Imperative".
    Intern Med· 2026· PMID 41780989recente
  9. If Becker Muscular Dystrophy Initially Manifests with Heart Disease and Rhabdomyolysis, Neurological Work-up Is Imperative.
    Intern Med· 2026· PMID 41780988recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:98895(Orphanet)
  2. OMIM OMIM:300376(OMIM)
  3. MONDO:0010311(MONDO)
  4. GARD:5900(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. 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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Distrofia muscular, tipo Becker
Compêndio · Raras BR

Distrofia muscular, tipo Becker

ORPHA:98895 · MONDO:0010311
🇧🇷 Brasil SUS
Internações
2.340/ano
Prevalência BR
1:3500 (homens)
Custo SUS
R$ 6.780/internação
Dados
DATASUS 2024
Geral
Prevalência
1-9 / 100 000
Herança
X-linked recessive
CID-10
G71.0 · Distrofia muscular
CID-11
Ensaios
36 ativos
Medicamentos
1 registrados
Início
Adolescent, Adult, Childhood, Elderly
Prevalência
2.0 (Europe)
MedGen
UMLS
C0699741
EuropePMC
Wikidata
Wikipedia
Papers 10a
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades