A síndrome de microftalmia-atrofia cerebral (MOBA) é uma doença neurodegenerativa genética rara caracterizada por microftalmia congênita, olhos fundos, cegueira, microcefalia, deficiência intelectual grave, espasticidade progressiva e convulsões. O desenvolvimento psicomotor é normal nos primeiros 6-8 meses de vida e depois disso diminui rápida e continuamente. A ressonância magnética cerebral revela alterações degenerativas progressivas e extensas, especialmente atrofia do córtex, cerebelo, tronco cerebral e corpo caloso, com perda completa da substância branca cerebral.
Introdução
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A síndrome de microftalmia-atrofia cerebral (MOBA) é uma doença neurodegenerativa genética rara caracterizada por microftalmia congênita, olhos fundos, cegueira, microcefalia, deficiência intelectual grave, espasticidade progressiva e convulsões. O desenvolvimento psicomotor é normal nos primeiros 6-8 meses de vida e depois disso diminui rápida e continuamente. A ressonância magnética cerebral revela alterações degenerativas progressivas e extensas, especialmente atrofia do córtex, cerebelo, tronco cerebral e corpo caloso, com perda completa da substância branca cerebral.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
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🇧🇷 Atendimento SUS — Síndrome de microftalmia-atrofia cerebral
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Nutrition (Burbank, Los Angeles County, Calif.)Sleep in children with spinal muscular atrophy and their caregivers: Exploring sleep problems and the need for care.
Research in developmental disabilitiesStem cell therapy in thin endometrium and Asherman's syndrome: a systematic review and meta-analysis.
European journal of obstetrics, gynecology, and reproductive biologyHistopathological evaluation in post-mortem renal biopsies of patients with COVID-19 and comorbidities: a case-control study.
Sao Paulo medical journal = Revista paulista de medicinaA novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report.
Frontiers in endocrinologyAutosplenectomy in a Patient With Autoimmune Polyglandular Syndrome Type 2 (APS-2).
Case reports in endocrinologySevere Unilateral Iliopsoas Atrophy After Dysplastic Hip Arthroplasty Leading to Recurrent L4/L5 Disc Degeneration: A Report of a Biomechanical Case.
CureusChest muscle area, spleen density, CD4 + T%, and C4 to predict the development of interstitial lung disease in patients with Sjögren's syndrome: a clinical prediction model.
Clinical rheumatology[Diagnosis and prevention of sarcopenic obesity should be emphasized].
Zhonghua yi xue za zhiPercutaneous endoscopic gastrostomy in atypical parkinsonian syndromes: survival and aspiration outcomes from a retrospective international cohort.
The New Zealand medical journal[XVII Post-ECTRIMS Meeting: Review of the New Developments Presented at the 2024 ECTRIMS Congress (I)].
Revista de neurologiaPerforated solitary mid-rectal diverticulum diagnosed with colonoscopy: a case report and literature review.
Journal of surgical case reportsMolecular hydrogen therapy in musculoskeletal conditions: An evidence-based review and critical analysis.
World journal of orthopedicsParsonage-Turner syndrome: current perspectives on etiology, diagnosis, and management.
Clinics in shoulder and elbowThe Clinical Impact of Sarcopenia and Delirium in Hospitalized Elderly Patients: An Analysis Using Muscle Ultrasound.
Journal of cachexia, sarcopenia and muscleMicrobes and ageing beyond the gut: the oral microbiome and frailty, sarcopenia and neurocognitive disorders in the elderly - a scoping review protocol.
BMJ openDistinct thalamic functional connectivity and volume patterns across focal epilepsies in children: A multimodal neuroimaging study.
EpilepsiaSuprascapular nerve entrapment syndrome caused by a spinoglenoid notch cyst with a concomitant giant lipoma: a case report.
Frontiers in surgeryPost-radiation levator ani atrophy is associated with worse Low Anterior Resection Syndrome score after nonoperative management for locally advanced rectal cancer: a potential MRI biomarker.
Frontiers in oncologyEffect of Baduanjin exercise on sarcopenia in older adult patients: a multicenter, randomized controlled trial.
Frontiers in public healthEfficacy and safety of adjunctive Chinese herbal decoction in treating Helicobacter pylori-positive chronic atrophic gastritis: a real-world retrospective study.
Frontiers in medicineHigh Prevalence of Probable Sarcopenia and Its Associations with Nutrition, Cognitive, and Physical Function in Hospitalized Patients with Alzheimer's Clinical Syndrome: A Cross-Sectional Study.
NutrientsHereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.
International journal of molecular sciencesRetinal Thickness Profiles in Parkinsonian Syndromes: Discerning Parkinson's Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy via Optical Coherence Tomography.
BiomedicinesClinical Phenotypes and Prognosis of Anti-mGluR1 Encephalitis: A Single-Center Case Series and Comprehensive Literature Review.
Diagnostics (Basel, Switzerland)Pigmentary Retinopathy in Alagille Syndrome: Fundus Findings in a Two-Year-Old Boy.
Diagnostics (Basel, Switzerland)Tongue atrophy following unexplained nausea, vomiting, and hiccups.
European journal of internal medicine[Pathology of the digestive system organs in post-COVID syndrome according to autopsy data from 2021-2024].
Arkhiv patologiiIntravaginal dehydroepiandrosterone for the treatment of vulvovaginal atrophy: a systematic review and meta-analysis.
Menopause (New York, N.Y.)Research Progress on the Intervention of Traditional Chinese Medicine Monomers on Signaling Pathways Related to Sarcopenia and Osteoporosis.
Current protein & peptide sciencePaediatric caecal volvulus, a rare presentation of african degenerative leiomyopathy - a case report.
International journal of colorectal diseasePotential role of MRI to optimize clinical trial design for progressive supranuclear palsy and corticobasal degeneration.
The journal of prevention of Alzheimer's diseaseAssociation between osteosarcopenia and frailty in older adults: a systematic review and meta-analysis.
BMC geriatrics[Clinical and histological evaluation of fractional CO2 laser treatment for genitourinary syndrome of menopause].
Gynecologie, obstetrique, fertilite & senologieStructural brain MRI abnormalities in SCN1A-, SCN2A-, SCN3A-, and SCN8A-related epilepsies: a cohort study.
Frontiers in neurologyReverse End-to-Side Abductor Digiti Minimi-to-Recurrent Motor Branch Nerve Transfer for Severe Carpal Tunnel Syndrome: Report of Three Cases.
MicrosurgeryCase Report: management of refractory glaucoma secondary to Sturge-Weber syndrome associated with ocular melanocytosis.
Frontiers in medicinePuerarin-loaded injectable hydrogel mitigates skeletal muscle wasting in colorectal cancer cachexia by targeting inflammatory signaling and improving protein homeostasis.
Materials today. BioAllgrove syndrome with early neurodegeneration in a child: A case report from Syria.
MedicineMultiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.
Molecular genetics & genomic medicineIdentification of Sarcopenic Obesity by Fat-to-Muscle Ratio in Older Adults: A Cohort Study.
Journal of cachexia, sarcopenia and muscleHemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated with SARS-CoV-2 Infection and a Heterozygous IRF3 Variant in a 10-month-old Girl: A Case Report.
NeuropediatricsReduction in mucosal phosphorylated STAT3 under therapy with JAK inhibitor in STAT3 gain of function mutation - a case study.
Virchows Archiv : an international journal of pathologyAutomated item-level measures of verbal fluency in semantic and logopenic primary progressive aphasia.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationEarly-Excitation Segment Atrophy (EESA) Syndrome: Linking Electrical Dyssynchrony to Regional Myocardial Atrophy.
Pacing and clinical electrophysiology : PACEDiagnostic clues in patients with clinical malabsorption and pathological small intestinal villous atrophy: Immune-mediated type and beyond.
World journal of gastroenterologyPsychological Resilience Measured by the Brief Resilience Scale and Its Association With Rapid Geriatric Assessment Domains and Hospital Stay in Older Adults.
Psychogeriatrics : the official journal of the Japanese Psychogeriatric SocietyThe role of early immunotherapy in rasmussen's encephalitis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyAssociações
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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.
- Znhit3 regulates p53/p21 signaling and governs cerebellar granule cell development.
- Local Translation in Glial Cells of the Brain.
- High-Fat Diet Anticipates Age-Related Sarcopenia Through Increased Oxidative Stress and Inflammation.
- A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.
- Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism.
- Short-term outcomes and tolerability of a hyaluronic acid-based vaginal gel in the management of genitourinary syndrome of menopause: a retrospective observational study.
- Vaginal pixel CO2 laser versus topical use of promestriene for genitourinary syndrome of menopause.
- Effectiveness of radiofrequency therapy combined with pelvic floor muscle training in breast cancer survivors with genitourinary syndrome of menopause: a study protocol.
- Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings.
- CORTICOBASAL SYNDROME PRESENTING AS A PROGRESSIVE HEMIPARETIC SYNDROME: A CASE REPORT.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:77299(Orphanet)
- OMIM OMIM:611222(OMIM)
- MONDO:0012638(MONDO)
- GARD:9292(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55345817(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
