Falhas ou alterações nos genes que produzem as proteínas do complexo sarcoglicano. Vários problemas de saúde estão ligados a essas alterações, incluindo um grupo de distrofias musculares (doenças que enfraquecem os músculos) que afetam principalmente os ombros e quadris, e são transmitidas de forma recessiva (a pessoa precisa herdar uma cópia do gene alterado de cada pai). Podem causar também doenças do músculo do coração (cardiomiopatias) e problemas respiratórios.
Introdução
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Falhas ou alterações nos genes que produzem as proteínas do complexo sarcoglicano. Vários problemas de saúde estão ligados a essas alterações, incluindo um grupo de distrofias musculares (doenças que enfraquecem os músculos) que afetam principalmente os ombros e quadris, e são transmitidas de forma recessiva (a pessoa precisa herdar uma cópia do gene alterado de cada pai). Podem causar também doenças do músculo do coração (cardiomiopatias) e problemas respiratórios.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 21 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 68 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição.
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix
Cell membrane, sarcolemmaCytoplasm, cytoskeleton
Muscular dystrophy, limb-girdle, autosomal recessive 3
An autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency.
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix
Cell membrane, sarcolemmaCytoplasm, cytoskeleton
Muscular dystrophy, limb-girdle, autosomal recessive 4
An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate.
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix
Cell membrane, sarcolemmaCytoplasm, cytoskeleton
Muscular dystrophy, limb-girdle, autosomal recessive 6
An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex.
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix
Cell membrane, sarcolemmaCytoplasm, cytoskeleton
Muscular dystrophy, limb-girdle, autosomal recessive 5
An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining.
Variantes genéticas (ClinVar)
554 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada 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 — Deficiências qualitativas ou quantitativas de sarcoglicano
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Disability and rehabilitationA Netnographic Analysis of Media Framing on Malaysia's Tobacco Generation End Game.
Asia-Pacific journal of public healthPreparing Health Profession Students to Address Vaccine Hesitancy.
Journal of cancer education : the official journal of the American Association for Cancer EducationListening to Australians with ovarian cancer: a cross-sectional survey investigating clinical trials awareness, information access and participation.
Supportive care in cancer : official journal of the Multinational Association of Supportive Care in CancerRecalibration: Exploring the Impact of Elexacaftor/Tezacaftor/Ivacaftor on Self-Concept for Adults with Cystic Fibrosis.
The patientOptimization of care and recovery in older colorectal cancer surgery patients: a hybrid effectiveness-implementation pilot study protocol.
Pilot and feasibility studiesQuality care collaboratives for maternal health across U.S. states: a scoping review protocol a scoping review protocol a scoping review protocol a scoping review protocol a scoping review protocol.
Systematic reviewsPathways to care among women hospitalized with severe abortion complications in Bangui, Central African Republic, a conflict-affected urban setting: qualitative results of the AMoCo (abortion-related morbidity and mortality in conflict-affected and fragile settings) study.
Conflict and healthPublic-Private Partnerships in tuberculosis service delivery in Somalia: a qualitative analysis.
BMC research notesTesting a digitally administered intervention to increase social participation, physical fitness, and health awareness among healthy older adults by means of tablet-based app use: study protocol of the SMART-AGE randomized controlled trial.
Trials"There's no better medicine than my outdoors": understanding the importance of physical activity in rural and remote First Nations communities in Northern British Columbia, Canada.
The international journal of behavioral nutrition and physical activityExploring the effectiveness of physical health check interventions for people with severe mental illness: a systematic review of qualitative and quantitative evidence.
BMC health services researchTransition to parenthood: parents' experiences of an extended home visiting programme in socioeconomically disadvantaged areas of Sweden.
International journal for equity in healthEffectiveness of situational simulation and case-based learning in pediatric intern cardiopulmonary resuscitation training: a pilot study.
BMC medical educationExperiences of hemodialysis in patients with end-stage renal disease: a patient journey map based on a qualitative study.
BMC nephrologyFacilitators and barriers to self-management among patients with maintenance hemodialysis in central China: a qualitative study.
BMC nephrologyThe Views of Swim School Providers on Impacts of a Population-Level Swimming Lesson Voucher Program.
Health promotion journal of Australia : official journal of Australian Association of Health Promotion ProfessionalsBeyond the ICU: family resilience and emotional turmoil after intensive care - a qualitative study.
International journal of qualitative studies on health and well-beingEmotional and psychological challenges of wives of men with schizophrenia: A phenomenological study.
Archives of psychiatric nursingSpirituality, culture, and family resilience in Alzheimer's care: A qualitative descriptive study in Türkiye.
Archives of psychiatric nursingCore elements of workplace violence management competence among nursing interns from the perspective of nursing educators: A qualitative study.
Archives of psychiatric nursingExamining the psychological symptoms of pediatric oncology nurses and barriers to seeking psychological help: A mixed-methods study.
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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.
- Development of a framework for implementing digital serious games in anatomy education: A single-centre qualitative study.
- Developing a leadership competency model for Chinese oncologists using the Delphi method.
- Sustainable Business Models in Artificial Intelligence-Integrated Nursing: A Qualitative Study of Opportunities and Risks.
- Clinicians' Perspectives on Implementing Contingency Management to Promote Parental Smoking Cessation in Routine Infant Care.
- Deep learning-based segmentation of aneurysmal subarachnoid hemorrhage: toward accurate and scalable prognostic imaging.Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia· 2026· PMID 41871480mais citado
- Correction to "Iron Deficiency in Drosophila melanogaster Glial Cells Impacts Behavior Through Altered Mitochondrial Dynamics".
- Long-Term Endocrine Effects of Hematopoietic Stem Cell Transplantation in Children: A Reappraisal.
- Droplet-like Na/Vacancy Ordering Enables Ultrahigh-Na-Content P2-Type Oxide Cathodes.
- Profound Biotinidase Deficiency as a Treatable Cause of Pediatric Diffuse Leukoencephalopathy and Diffusion Restriction.
- Endogenous Therapeutic Agents for Acute Corneal and Ocular Surface Injuries.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:207052(Orphanet)
- MONDO:0016140(MONDO)
- GARD:20389(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Q7423586(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