Uma doença neuromuscular causada por problemas com a plectina, que pode não funcionar direito ou estar em quantidade inadequada. É caracterizada por distrofia muscular.
Introdução
O que você precisa saber de cara
Uma doença neuromuscular causada por problemas com a plectina, que pode não funcionar direito ou estar em quantidade inadequada. É caracterizada por distrofia muscular.
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
+ 25 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 77 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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.
Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofiber integrity
Cytoplasm, cytoskeletonCell junction, hemidesmosomeCell projection, podosome
Epidermolysis bullosa simplex 5C, with pyloric atresia
A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5C is an autosomal recessive disorder characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy.
Variantes genéticas (ClinVar)
509 variantes patogênicas registradas no 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 — Deficiências qualitativas e quantitativas de plectina
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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Geriatrics (Basel, Switzerland)Disposition at Equipoise: A Qualitative Study of Emergency Physicians' Decision-Making About Hospitalizing People With Dementia.
Academic emergency medicine : official journal of the Society for Academic Emergency MedicineBarriers and Facilitators to Accessing Preventive Services for Chronic Diseases Among People From Bangladeshi and Nepalese Backgrounds Living in Sydney.
Health expectations : an international journal of public participation in health care and health policyImproving the emotional wellbeing of university students through culturally adapted cognitive and dialectical behavioral group interventions: protocol for two parallel feasibility and effectiveness studies.
Translational behavioral medicine'I can get all the services I want, without fear of being judged': Acceptability of a sexual and reproductive health service for youth in Zimbabwe.
Global public healthInfluences on Vaccine Decision-Making During Pregnancy.
Journal of midwifery & women's health'Beyond the Prescription': An Arts-Based Study of Older Adults Living With HIV and Their Primary Care Experiences in Ontario.
Health expectations : an international journal of public participation in health care and health policySibling Involvement and Documentation in Pediatric Eating Disorder Care.
The International journal of eating disordersEnhancing the Patient Experience in Cardiac Procedures: A Mixed-Methods Quality Improvement Study.
American journal of medical quality : the official journal of the American College of Medical QualityGeneral practitioner training in youth suicide prevention: a systematic review.
Psychology, health & medicinePrivatization of maternal care and women's access to quality healthcare: a case study on middlemen in Bangladesh.
Health policy and planningContemporary clinical incident analysis methods used within acute care settings: a scoping review.
JBI evidence synthesisWater is K'é: A multi-level intervention to promote healthy beverage choices among Navajo families: Trial rationale and study protocol.
Nutrition and healthFactors Associated With the Usability and Adoption of Continuous Monitoring Devices With Deterioration Alerting Systems in Acute Hospital Non-ICU Settings: A Mixed Methods Study.
Journal of nursing managementAdvancing Quantitative Susceptibility Mapping With 2.5D Diffusion Models for Rapid Intracranial Hemorrhage Quantification.
Magnetic resonance in medicineThe role of financial distress as a patient-relevant endpoint in early benefit assessments for oncology drugs: a mixed-methods document analysis.
International journal of technology assessment in health careThe road to a new normal - A qualitative study on relatives' needs and roles in amputation rehabilitation.
Clinical rehabilitation'Being empathetic to my patients and ourselves': a qualitative process evaluation of READ-Y psychological first aid training for healthcare workers working in routine care.
European journal of psychotraumatologyEnhanced muscle MRI using deep learning: shorter acquisition time with improved image quality.
PeerJInfluence of Healthcare Worker Training on Support for Exclusive Breastfeeding: A Systematic Review.
International journal of women's healthMixed-Methods Evaluation of Programmatic Interventions on Academic Performance and Resident Perspectives in Internal Medicine Residency.
Advances in medical education and practiceOutcome-Based Self-Directed Learning (OBSDL) in Pharmacology in the Indian Context: A Convergent Mixed-Method Study.
CureusUnmet needs in patients with RA judged in remission by the rheumatologist: a semi-structured interview study.
Rheumatology advances in practice[Satisfaction following gender-affirming surgery].
Ugeskrift for laegerOutcomes from a Longitudinal Palliative Care Curriculum for Medical Students.
Journal of palliative medicine"Stress Off Our Shoulders": A Qualitative Pilot Study of a Neonatal Medical-Legal Partnership.
The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & EthicsParental Priorities for Childhood Obesity Management in Primary Care.
Childhood obesity (Print)Barriers and Facilitators to COVID-19 Vaccine Rollout among Health Professional Students: A Qualitative Study from an Organizational Stakeholder Perspective.
Disaster medicine and public health preparednessOlder Spouses' Decision-Making on Intubation for Older Patients: A Qualitative Study.
International journal of older people nursingNursing Doctoral Theses Across Eight Countries: A Document-Based Qualitative Study.
Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of NursingGeneration Healthy Kids: a protocol for the mixed methods process evaluation of a school- and community-based intervention targeting healthy weight and wellbeing among 6-11-year-olds in Denmark.
TrialsCannabis consumption and problematic internet use: analysis of a free-text response collected through a self-reported online questionnaire.
BMC psychologyMentors' perspectives on multidisciplinary in situ simulation teaching for new nurses: a qualitative SWOT analysis in a top-tier hospital in Central China.
BMC nursingElucidating the phase 1 trial experience among study participants following completion of the INTERCEPT-AD study of sabirnetug (ACU193) for early Alzheimer's disease: a qualitative interview study.
TrialsExploring sustainable leadership among first-line managers in healthcare: a qualitative study.
BMC health services researchCouples' symbiotic experience in perinatal vulnerability: a phenomenological qualitative study.
BMC pregnancy and childbirthScreening practices for financial abuse of older people at a large metropolitan hospital: a qualitative study of health professionals.
BMC health services researchParental involvement in cognitive behavioral group treatment for adolescents with obsessive-compulsive disorder: a qualitative study.
BMC psychiatryService providers' adaptations to facilitate family-centered care for children with cerebral palsy: a qualitative study.
BMC primary carePerceptions regarding the relevance of integrating an advanced practice physiotherapist into emergency department settings in Belgium: a qualitative exploratory study.
BMC emergency medicineEducating during the COVID-19 Pandemic: An Educator Perspective on Mental Health.
Disaster medicine and public health preparednessThe experience of young adult cancer survivors' engagement with nature.
Journal of cancer survivorship : research and practiceCT-to-MRI translation of medical volume data based on an enhanced diffusion model.
Scientific reportsAssociações
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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.
- Caregiver and healthcare professional perspectives on drivers of routine immunisation uptake in East New Britain, Papua New Guinea: a qualitative study.
- The use of an augmented reality app to support an exercise intervention for children and young people with cancer: perspectives of users and exercise and healthcare professionals in the FORTEe trial.
- "We've managed to find our own path of how we do it": exploring parental perceptions of using age-inappropriate formulations at home-a qualitative study.
- Experiences and needs of individuals living with diabetic peripheral neuropathy: a qualitative systematic review and meta-synthesis.
- Underserved and overburdened: an ethnographic examination of rural animal sheltering.
- A roadmap for a patient-centred approach to Pompe disease management.
- Patients with carpal tunnel syndrome show increased reliance on vision in reaching-to-grasp: a study of in-flight grasp kinematics in compressive nerve injury.
- Lived experiences of women with fibromyalgia in Türkiye: A qualitative study.
- A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy.
- Living and coping with adult-onset myotonic dystrophy type 1 from the perspectives of caregivers.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:209196(Orphanet)
- MONDO:0016198(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55786046(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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