Raras
Buscar doenças, sintomas, genes...
Deficiências qualitativas ou quantitativas do gama-sarcoglicano
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Deficiência do gama-sarcoglicano (SGCG) causa distrofia muscular com fraqueza progressiva, levando a quedas, perda da deambulação e defeitos ventilatórios. Manifesta-se com cisão de fibras musculares e alterações na marcha.

🏥
SUS: Sem cobertura SUSScore: 0%
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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
15 sintomas
🦴
Ossos e articulações
5 sintomas
❤️
Coração
3 sintomas
😀
Face
1 sintomas
🫁
Pulmão
1 sintomas

+ 13 sintomas em outras categorias

Características mais comuns

Cisão de fibra muscular
Defeito ventilatório restritivo
Quedas frequentes
Aumento da variabilidade no diâmetro da fibra muscular
Hiperlordose
Morfologia anormal de macrófagos
38sintomas
Sem dados (38)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 38 características clínicas mais associadas, ordenadas por frequência.

Cisão de fibra muscularMuscle fiber splitting
Defeito ventilatório restritivoRestrictive ventilatory defect
Quedas frequentesFrequent falls
Aumento da variabilidade no diâmetro da fibra muscularIncreased variability in muscle fiber diameter
HiperlordoseHyperlordosis

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026197 papers
Linha do tempo
2025Hoje · 2026
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.

SGCGGamma-sarcoglycanDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane, sarcolemmaCytoplasm, cytoskeleton

VIAS BIOLÓGICAS (1)
Formation of the dystrophin-glycoprotein complex (DGC)
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Coração - Ventrículo esquerdo
59.2 TPM
Músculo esquelético
56.9 TPM
Coração - Átrio
50.8 TPM
Aorta
6.8 TPM
Pulmão
6.7 TPM
OUTRAS DOENÇAS (2)
autosomal recessive limb-girdle muscular dystrophy type 2Cautosomal recessive limb-girdle muscular dystrophy
HGNC:10809UniProt:Q13326

Variantes genéticas (ClinVar)

200 variantes patogênicas registradas no ClinVar.

🧬 SGCG: Single allele ()
🧬 SGCG: NC_000013.11:g.22928042_24349936del ()
🧬 SGCG: NC_000013.10:g.(?_23755117)_(23899302_?)del ()
🧬 SGCG: NM_000231.3(SGCG):c.251C>G (p.Ser84Ter) ()
🧬 SGCG: Multiple alleles ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada 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

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Deficiências qualitativas ou quantitativas do gama-sarcoglicano

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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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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Development of a framework for implementing digital serious games in anatomy education: A single-centre qualitative study.

Anatomical sciences education2026 Mar 23

Este estudo explora a visão de educadores sobre o uso de jogos digitais sérios no ensino de anatomia, ferramenta com grande potencial para a formação de futuros médicos. Embora reconheçam que podem engajar e ensinar eficazmente, há preocupações com estigma, falta de tempo e provas de eficácia, além da recomendação ética de não incluir espécimes cadavéricos em jogos para preservar a dignidade dos doadores. O estudo propõe um modelo para implementar esses jogos, destacando a necessidade de apoio institucional e design inclusivo para uma integração pedagógica e eticamente sólida na educação médica.

🇧🇷 traduzido
#2

Developing a leadership competency model for Chinese oncologists using the Delphi method.

BMJ leader2026 Mar 23

Este estudo desenvolveu um modelo de competências de liderança crucial para oncologistas, com o objetivo de alinhar as melhores práticas internacionais com as necessidades locais chinesas. O modelo final, criado com a colaboração de 40 especialistas, integra 6 domínios e 40 competências essenciais, como integridade, segurança do paciente, empatia, comunicação clara e gestão da qualidade e de cuidados de fim de vida. Para médicos, este modelo oferece um guia prático para seu desenvolvimento profissional e liderança, e para pacientes, garante um atendimento mais seguro, empático, de maior qualidade e alinhado com as necessidades atuais.

🇧🇷 traduzido
#3

Sustainable Business Models in Artificial Intelligence-Integrated Nursing: A Qualitative Study of Opportunities and Risks.

Nursing & health sciences2026 Mar

A integração da inteligência artificial (IA) na enfermagem é vista como uma oportunidade para melhorar significativamente a segurança do paciente e permitir que os enfermeiros dediquem mais tempo ao cuidado direto, ao reduzir suas tarefas administrativas. No entanto, surgem preocupações importantes com a segurança dos dados dos pacientes e dilemas éticos. Para que a IA beneficie o cuidado de forma justa e centrada no paciente, é fundamental estabelecer uma governança robusta e políticas claras que garantam a ética e a privacidade.

🇧🇷 traduzido
#4

Clinicians' Perspectives on Implementing Contingency Management to Promote Parental Smoking Cessation in Routine Infant Care.

Academic pediatrics2026 Mar 21

Profissionais de pediatria avaliam positivamente a Gestão de Contingência (GC), uma intervenção comprovada, para ajudar pais/cuidadores de bebês a parar de fumar, dada a importância de prevenir a exposição à fumaça na infância. Embora haja preocupações sobre a complexidade e o impacto nos profissionais e cuidadores, essas barreiras podem ser superadas com treinamento abrangente da equipe e parcerias, facilitando a implementação dessa estratégia eficaz na rotina de cuidados infantis.

🇧🇷 traduzido
#5

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 Australasia2026 Mar 22

Este estudo desenvolveu um modelo de inteligência artificial para segmentar automaticamente hemorragias cerebrais (subaracnóide, intraparenquimatosa e intraventricular) em pacientes com aneurismas, um processo crucial, mas demorado e variável quando feito manualmente. O modelo demonstrou alta precisão, superou algoritmos existentes e reduziu o tempo de processamento em 97%, fornecendo aos médicos uma ferramenta muito mais eficiente. Além disso, as estimativas de volume automatizadas foram tão eficazes quanto as manuais na previsão do resultado funcional dos pacientes em seis meses, oferecendo um prognóstico mais rápido e confiável para uma melhor tomada de decisão clínica.

🇧🇷 traduzido

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Midwives' Perspectives on a Program Supporting Spontaneous Pushing During the Second Stage of Labor: A Qualitative Study.

Birth (Berkeley, Calif.)
2026

Aboriginal and Torres Strait Islander Peoples' Experiences With Culturally Safe Dental Research: A Qualitative Exploration.

Community dentistry and oral epidemiology
2026

Unraveling acceptance of healthcare innovations in neurorehabilitation: results from a discrete choice experiment.

The European journal of health economics : HEPAC : health economics in prevention and care
2026

Paraspinal muscle fatty infiltration is associated with nonunion and cage subsidence after anterolateral lumbar interbody fusion: a level-specific analysis.

Scientific reports
2026

Patients' Lived Experiences After Cytoreductive Surgery and HIPEC for Peritoneal Carcinomatosis from GI Malignancies: A Qualitative Study.

Annals of surgical oncology
2026

Lessons from the COVID-19 pandemic: A secondary thematic analysis of nurse managers' experiences.

Nursing
2026

Illness experience and needs in children with inflammatory bowel disease: a systematic review and meta-synthesis of qualitative studies.

BMC pediatrics
2026

Analysis of functional and serviceability performance in sustainable yarns and socks by using multi-response optimization technique.

Scientific reports
2026

Integrated treatment approaches for co-occurring mental health and substance use disorders: findings from a survey of European healthcare providers.

Irish journal of psychological medicine
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Subjective meanings of quality of life and related coping mechanisms: insights from a reflective thematic analysis among people living with HIV in Antwerp, Belgium.

AIDS care
2026

Intersecting stigmas: the impact of ageism and HIV discrimination on care experiences of older adults in Uganda.

AIDS care
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Corrigendum to "To be a crew member, a passenger, or plainly left behind - a qualitative study of women's experiences of decision-making regarding interventions in labour and birth" [Midwifery 156 (2026) 104732].

Midwifery
2026

Ethical tensions in legally mandated substance use treatment: A scoping review of participant perspectives.

Addiction (Abingdon, England)
2026

The Place of Fruits and Herbal Medicines in the Treatment of Diabetes in Pregnancy: Two Sides of the Coin.

The journal of obstetrics and gynaecology research
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TikTokfluence: The rise of GLP-1 receptor agonists in the age of social media health trends.

Journal of the American Pharmacists Association : JAPhA
2026

Paid Employment and Ability to Work Among People Receiving Dialysis: A Systematic Review of Qualitative Studies.

American journal of kidney diseases : the official journal of the National Kidney Foundation
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Post-finasteride syndrome: survey of dermatologists from the Spanish Hair and Nail Disorders Group.

Actas dermo-sifiliograficas
2026

Temporary Mechanical Circulatory Support in LVAD Candidates with Right Ventricular Dysfunction: Acuity Without Long-Term Futility.

The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation
2026

Building Public Health Leadership Capacity Through Community-Based Education: The Florida Health Policy Leadership Academy.

American journal of preventive medicine
2026

Therapeutic efficacy of engineered exosomes in Alzheimer's disease: A systematic review and meta-analysis of preclinical animal models.

Neuroscience
2026

Limited consensus in expert opinions on studies evaluating the design, conduct, analysis, or reporting of health research: a survey study.

Journal of clinical epidemiology
2026

Evaluation of Lung Disease in Adults with Osteogenesis Imperfecta: A Cross-Sectional, Multi-Center Study.

Chest
2026

Volunteering for Ukraine: scoping the operational experiences and impacts among UK and US veterans.

European journal of psychotraumatology
2026

Dried Serum Spots for External Quality Assurance of Scrub Typhus IgM Serology: A Multicentre Pilot Study From India.

Tropical medicine & international health : TM & IH
2026

Surviving the tsunami of an ageing academic workforce: Mentorship for the next generation.

Nurse education today
2026

How do environment and place attachment influence social participation among stroke survivors? A mixed-methods study.

Health & place
2026

Caretakers treating sows under veterinary supervision: Veterinarians' perceptions of medication safety risks.

Preventive veterinary medicine
2026

Translating MRI to PET through conditional diffusion models with enhanced pathology awareness.

Medical image analysis
2026

Experiences of obstetric anaesthesia care among minoritised ethnic groups in England: a qualitative study.

International journal of obstetric anesthesia
2026

Characterizing nursing home care team communication via text messaging: A social network analysis.

International journal of medical informatics
2026

Arabic verbal fluency in mesial temporal and generalized epilepsy: evidence from letter and category tasks with healthy controls.

Epilepsy & behavior : E&B
2026

Clinician Perspectives on the Extracorporeal Membrane Oxygenation Decision-Making Process.

JAMA network open
2026

"It's a journey": Psychosocial perspectives on parenting a young child with esophageal atresia.

Pediatric surgery international
2026

Psychological Resilience and Coping Among Women Living With Chronic Hypertension in Rural Uganda.

Inquiry : a journal of medical care organization, provision and financing
2026

Pulmonary Function in Pediatric Inflammatory Bowel Disease: A Systematic Review and Meta-Analysis.

Pediatric pulmonology
2026

Developing policy-informed principles for rehabilitation using a model of care framework: a hand therapy example in a Global South context.

Disability and rehabilitation
2026

A Netnographic Analysis of Media Framing on Malaysia's Tobacco Generation End Game.

Asia-Pacific journal of public health
2026

Preparing Health Profession Students to Address Vaccine Hesitancy.

Journal of cancer education : the official journal of the American Association for Cancer Education
2026

Listening 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 Cancer
2026

Recalibration: Exploring the Impact of Elexacaftor/Tezacaftor/Ivacaftor on Self-Concept for Adults with Cystic Fibrosis.

The patient
2026

Optimization of care and recovery in older colorectal cancer surgery patients: a hybrid effectiveness-implementation pilot study protocol.

Pilot and feasibility studies
2026

Quality 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 reviews
2026

Pathways 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 health
2026

Public-Private Partnerships in tuberculosis service delivery in Somalia: a qualitative analysis.

BMC research notes
2026

Testing 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
2026

"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 activity
2026

Exploring the effectiveness of physical health check interventions for people with severe mental illness: a systematic review of qualitative and quantitative evidence.

BMC health services research
2026

Transition to parenthood: parents' experiences of an extended home visiting programme in socioeconomically disadvantaged areas of Sweden.

International journal for equity in health
2026

Effectiveness of situational simulation and case-based learning in pediatric intern cardiopulmonary resuscitation training: a pilot study.

BMC medical education
2026

Experiences of hemodialysis in patients with end-stage renal disease: a patient journey map based on a qualitative study.

BMC nephrology
2026

Facilitators and barriers to self-management among patients with maintenance hemodialysis in central China: a qualitative study.

BMC nephrology
2026

The 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 Professionals
2026

Beyond the ICU: family resilience and emotional turmoil after intensive care - a qualitative study.

International journal of qualitative studies on health and well-being
2026

Emotional and psychological challenges of wives of men with schizophrenia: A phenomenological study.

Archives of psychiatric nursing
2026

Spirituality, culture, and family resilience in Alzheimer's care: A qualitative descriptive study in Türkiye.

Archives of psychiatric nursing
2026

Core elements of workplace violence management competence among nursing interns from the perspective of nursing educators: A qualitative study.

Archives of psychiatric nursing
2026

Examining the psychological symptoms of pediatric oncology nurses and barriers to seeking psychological help: A mixed-methods study.

Archives of psychiatric nursing

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Doenças relacionadas

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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. Development of a framework for implementing digital serious games in anatomy education: A single-centre qualitative study.
    Anatomical sciences education· 2026· PMID 41872123mais citado
  2. Developing a leadership competency model for Chinese oncologists using the Delphi method.
    BMJ leader· 2026· PMID 41871961mais citado
  3. Sustainable Business Models in Artificial Intelligence-Integrated Nursing: A Qualitative Study of Opportunities and Risks.
    Nursing & health sciences· 2026· PMID 41871891mais citado
  4. Clinicians' Perspectives on Implementing Contingency Management to Promote Parental Smoking Cessation in Routine Infant Care.
    Academic pediatrics· 2026· PMID 41871754mais citado
  5. 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
  6. Longitudinal Analysis of Variations in Daily Step Counts and Long-Term Implications of COVID-19 Waves and Restriction Phases in Qatar's Step Into Health Program: Mixed Methods Study.
    JMIR Public Health Surveill· 2026· PMID 41871338recente
  7. Scaling Multimodal Agentic AI in Medical Education: Multisite Cross-Sectional Study of Simulation Effectiveness in Primary Care.
    JMIR Form Res· 2026· PMID 41871335recente
  8. The Roles and Purposes of Caring Touch in Health Professional Practice: A Discourse Analysis.
    Nurs Inq· 2026· PMID 41871287recente
  9. Variations in Frailty Perceptions Between Patients and Physicians.
    Gerontology· 2026· PMID 41871217recente
  10. Why Some Speak Up: Exploring Bystander Action in Psychological Gender-Based Violence.
    J Interpers Violence· 2026· PMID 41871200recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:207067(Orphanet)
  2. MONDO:0016143(MONDO)
  3. Variantes catalogadas(ClinVar)
  4. Q55785964(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

Compêndio · Raras BR

Deficiências qualitativas ou quantitativas do gama-sarcoglicano

ORPHA:207067 · MONDO:0016143
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UMLS
C5680805
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