A Distrofia Muscular Oculofaríngea (OPMD) é uma doença muscular progressiva que se manifesta na idade adulta, caracterizada por queda progressiva das pálpebras, dificuldade para engolir, dificuldade na fala e fraqueza nos braços e pernas (principalmente nas partes mais próximas ao corpo).
Introdução
O que você precisa saber de cara
A Distrofia Muscular Oculofaríngea (OPMD) é uma doença muscular progressiva que se manifesta na idade adulta, caracterizada por queda progressiva das pálpebras, dificuldade para engolir, dificuldade na fala e fraqueza nos braços e pernas (principalmente nas partes mais próximas ao corpo).
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
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 42 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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product (By similarity). Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and also controls the poly(A) tail length (By similarity). Increases the affinity of poly(A) polymerase for RNA (By similarity). Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-m
NucleusCytoplasmNucleus speckle
Oculopharyngeal muscular dystrophy 1
An autosomal dominant, late-onset, slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement.
Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilize the transcripts and minimize tangling and knotting. Packaging plays a role in various processes such as transcription, pre-mRNA processing, RNA nuclear export, subcellular location, mRNA translation and stability of mature mRNAs (PubMed:19099192). Forms
NucleusNucleus, nucleoplasmCytoplasmCytoplasmic granuleSecreted, extracellular exosome
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance.
Variantes genéticas (ClinVar)
87 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 38 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
11 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 — Distrofia muscular óculo-faríngea
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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
Ensaios em destaque
🟢 Recrutando agora
4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
16 ensaios clínicos encontrados, 4 ativos.
Publicações mais relevantes
Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an extremely rare autosomal recessive disease caused by variants in the thymidine phosphorylase gene (TYMP), primarily characterized by severe gastrointestinal and neurological symptoms. The complete phenotype of MNGIE has not been linked to any gene other than TYMP. We describe two identical twins who exhibited delayed psychomotor development, infantile bilateral cataract, congenital demyelinating polyneuropathy, and severe progressive gastrointestinal dysmotility with recurrent pseudo-obstruction episodes, along with diffuse supratentorial leukoencephalopathy that mainly overlaps with classic TYMP-related MNGIE. During the course of the disease, one patient developed Wernicke encephalopathy, triggered by chronic malnutrition related to recurrent gastrointestinal pseudo-obstruction. This patient later suffered from a catastrophic stroke-like episode, resulting in massive cerebral edema and brain death at the age of 38. Next-generation sequencing (NGS) using a custom-targeted mitochondrial gene panel identified two compound heterozygous variants in the POLG gene: the paternal variants p.Thr251Ile and p.Pro587Leu, occurring in cis, and the novel maternal variant p.Arg853Gly. Quantification of mtDNA by real-time PCR on skeletal muscle DNA detected significant depletion, but no multiple deletions were detected with mtDNA analysis by long-range PCR and Nanopore sequencing. These cases showed a very distinctive POLG phenotype, with some MNGIE-like features, expanding the clinical and genetic spectrum of the POLG-related diseases. Additionally, they highlighted the importance of monitoring for thiamine deficiency in mitochondrial patients with severe gastrointestinal dysmotility who experience sudden clinical deterioration.
Oculopharyngeal muscular dystrophy (OPMD) associated alanine expansion impairs the function of the nuclear polyadenosine RNA binding protein PABPN1 as revealed by proximity labeling and comparative proteomics.
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset disease caused by modest alanine expansion at the amino terminus of the nuclear polyadenosine RNA binding protein PABPN1. PABPN1 is expressed ubiquitously and is involved in multiple steps in RNA processing including optimal cleavage and polyadenylation, polyadenylation signal selection, and export of polyadenylated RNAs from the nucleus. Expanded PABPN1 forms aggregates in a subset of muscle nuclei, but PABPN1 levels are paradoxically low in muscle compared to other tissues. Despite several studies in model systems and patient tissues, it remains unclear whether alanine expansion directly impairs PABPN1 function. The molecular mechanisms leading to OPMD pathology are poorly understood. Here we used a proximity labeling approach to better understand the effect of alanine expansion on PABPN1 function in a cell culture model of skeletal muscle. To avoid the confounding factor of overexpression, PABPN1 constructs containing a carboxy-terminal TurboID tag were expressed in skeletal myotubes at near native levels using an inducible promoter. Although non-expanded PABPN1-TurboID was able to complement RNA export and myoblast differentiation defects caused by deficiency of endogenous PABPN1, alanine expanded PABPN1-TurboID was not. Comparative proteomics revealed increased interaction between expanded PABPN1 and RNA splicing and polyadenylation machinery and follow-up studies identified a dominant negative effect of expanded PABPN1 on RNA export in differentiated myotubes. These data indicate that alanine expansion can impair PABPN1 function regardless of the presence of wild type PABPN1 and support a model wherein both loss function and dominant negative effects of expanded PABPN1 contribute to OPMD pathology.
Evaluation of Dysphagia in Myositis and Muscular Dystrophy Using Real-Time MRI and Quantitative Muscle Ultrasound.
Swallowing dysfunction-dysphagia-is a frequent and debilitating symptom in neuromuscular disorders, leading to malnutrition, cachexia, aspiration pneumonia, and death. Identification of the underlying pathophysiological mechanisms is important for diagnosis and treatment. As standard assessments have limitations, novel imaging techniques are needed. We here studied the utility of real-time MRI and quantitative muscle ultrasound for characterizing dysphagia in two different neuromuscular disorders. This prospective cohort study included 18 patients with inclusion body myositis (IBM, 33% female, age 68.9 ± 7.7 years) and 13 with oculopharyngeal muscular dystrophy (OPMD, 62% female, age 55.9 ± 7.0 years) from two European Neuromuscular research centers (Nijmegen, NL; Göttingen, DE). Swallowing function was studied using real-time MRI (RT-MRI), FEES (flexible endoscopic evaluation of swallowing), and clinical assessments. T1-mapping and quantitative muscle ultrasound (QMUS) were used to analyse tissue properties in swallowing muscles. Outcomes were compared between the two muscle diseases. RT-MRI values were also compared with 22 age- and sex-matched non-myopathic controls. RT-MRI revealed significantly prolonged oral transit times in OPMD vs. controls (difference between means = 581.2 ms, 95% CI 225.9-936.4, p = 0.002). Pharyngeal transit time was significantly prolonged in IBM vs. controls (difference between means = 1132.8 ms, 95% CI 482.2-1783, p = 0.001). A cricopharyngeal bar as a well-established morphological indicator of dysphagia was identified in 80% of patients with IBM compared with 53% in OPMD. Fatty degeneration of the tongue in OPMD significantly correlated between MRI-T1 values and ultrasound echogenicity (Spearman's ρ = -0.52, p = 0.005). ROC revealed excellent discrimination between diseases by combining RT-MRI, T1-mapping and QMUS (AUC = 0.95, 95% CI 0.86-1.00), while FEES and clinical assessments failed to differentiate specific patterns of dysphagia. This study supports the value of novel MRI and ultrasound techniques for clinical use by identifying the pathophysiology and severity of impaired swallowing. Differentiating the phenotypes of dysphagia can aid in the diagnosis and treatment of affected patients. RT-MRI and QMUS may serve as outcome measures for swallowing in clinical trials.
Wernicke Encephalopathy Associated with Malabsorption in Degos Disease.
A 40-year-old female with systemic Degos disease presented with 4 days of confusion, somnolence, and ataxia. She was dependent on total parenteral nutrition (TPN) following ileocecectomy for Degos-related gastrointestinal complications and had recently transitioned from intravenous (IV) to oral thiamine supplementation. Although central nervous system involvement of Degos was initially suspected, magnetic resonance imaging findings, low thiamine levels, and rapid improvement with IV thiamine confirmed Wernicke's encephalopathy. This case highlights the importance of recognizing nutritional deficiencies in TPN-dependent patients with neurologic symptoms, even in the context of a rare underlying disease.
Recurrent Pneumonia in a Patient With Oculopharyngeal Muscular Dystrophy (OPMD) due to GCN Expansion in the PABPN1 Gene: A Diagnostic Challenge.
Oculopharyngeal muscular dystrophy (OPMD) is a rare neuromuscular disorder that may present with respiratory complications, yet it is seldom considered in this context. We report a 68-year-old institutionalized man, independent in daily activities, who presented with exertional dyspnea, fever, productive cough, hypoxemia, and bibasilar crackles. Laboratory tests showed normocytic anemia, lymphopenia, and elevated C-reactive protein; chest imaging revealed an alveolo-interstitial pattern. Despite empirical antibiotics, he experienced recurrent relapses with fever and radiological worsening. Immunological studies showed T-cell lymphopenia, reduced NK cells, and isolated anti-SSA/Ro52 positivity. Pneumocystis jirovecii was detected in an initial bronchoalveolar lavage but not confirmed, and no significant immunosuppression was found. Later, bilateral ptosis, proximal weakness, and oropharyngeal dysphagia prompted neuromuscular evaluation. Muscle MRI showed symmetric atrophy, and quadriceps biopsy revealed rimmed vacuoles. Genetic analysis confirmed OPMD (GCN repeat expansion in PABPN1). This case emphasizes the need to consider neuromuscular causes of recurrent pneumonia and the value of multidisciplinary, genetic-based diagnosis. La distrofia muscular oculofaríngea es un trastorno neuromuscular poco frecuente que puede causar complicaciones respiratorias.Hombre de 68 años, institucionalizado e independiente en sus actividades diarias, que acudió a consulta por disnea de esfuerzo, fiebre, tos productiva, hipoxemia y crepitantes bibasales. Los análisis de laboratorio mostraron anemia normocítica, linfopenia y elevación de la proteína C reactiva; la radiografía de tórax reveló un patrón alveolointersticial. A pesar del tratamiento antibiótico empírico, presentó recaídas recurrentes con fiebre y empeoramiento radiológico. Los estudios inmunológicos mostraron linfopenia de células T, disminución de células NK y positividad aislada para anti-SSA/Ro52. Se detectó Pneumocystis jirovecii en un lavado broncoalveolar inicial, pero no se confirmó, y no se observó inmunosupresión. Posteriormente, la ptosis bilateral, la debilidad proximal y la disfagia orofaríngea motivaron una evaluación neuromuscular. La RMN muscular mostró atrofia simétrica y la biopsia del cuádriceps reveló vacuolas ribeteadas. El análisis genético confirmó distrofia oculofaríngea (expansión de repeticiones GCN en PABPN1). Este caso subraya la necesidad de considerar las causas neuromusculares de la neumonía recurrente y el valor de un diagnóstico multidisciplinario basado en la genética.
Publicações recentes
Hidden diagnoses among patients with double seronegative myasthenia gravis.
Evaluation of Dysphagia in Myositis and Muscular Dystrophy Using Real-Time MRI and Quantitative Muscle Ultrasound.
Mucoepidermoid carcinoma of the thymus: a case report and review of literature.
🥇 Meta-análiseRecurrent Pneumonia in a Patient With Oculopharyngeal Muscular Dystrophy (OPMD) due to GCN Expansion in the PABPN1 Gene: A Diagnostic Challenge.
Oculopharyngeal muscular dystrophy (OPMD) associated alanine expansion impairs the function of the nuclear polyadenosine RNA binding protein PABPN1 as revealed by proximity labeling and comparative proteomics.
📚 EuropePMC368 artigos no totalmostrando 196
Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.
European journal of neurologyEvaluation of Dysphagia in Myositis and Muscular Dystrophy Using Real-Time MRI and Quantitative Muscle Ultrasound.
Journal of cachexia, sarcopenia and muscleWernicke Encephalopathy Associated with Malabsorption in Degos Disease.
Journal of investigative medicine high impact case reportsRecurrent Pneumonia in a Patient With Oculopharyngeal Muscular Dystrophy (OPMD) due to GCN Expansion in the PABPN1 Gene: A Diagnostic Challenge.
Open respiratory archivesOculopharyngeal muscular dystrophy (OPMD) associated alanine expansion impairs the function of the nuclear polyadenosine RNA binding protein PABPN1 as revealed by proximity labeling and comparative proteomics.
PLoS geneticsWhat is known about muscle weakness, balance impairments and indoor mobility limitations in oculopharyngeal muscular dystrophy? A scoping review.
Journal of neuromuscular diseasesComprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy.
European journal of neurologyGlossoptosis After Tracheal Extubation in a Patient With Oculopharyngeal Muscular Dystrophy: A Case Report.
CureusInsights into the heterogeneity of oculopharyngeal muscular dystrophy.
NeurogeneticsPerioperative Considerations in a Patient With Oculopharyngeal Muscular Dystrophy: A Case Report.
CureusMitochondrial Neurogastrointestinal Encephalomyopathy Presenting with Peripheral Neuropathy and Hearing Loss.
WMJ : official publication of the State Medical Society of WisconsinNuclear Protein Aggregates Disrupt RNA Processing and Alter Biomechanics in a Muscle Cell Model of OPMD.
Aging and diseaseDisease-specific genetic diagnostic strategies for muscle diseases unresolved by short-read sequencing.
Journal of human geneticsMitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights.
Orphanet journal of rare diseasesSuccessful AAV8 gene therapy on hepatic ex situ machine perfusion for mitochondrial neurogastrointestinal encephalomyopathy.
Journal of hepatologyLimb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development.
Neurology. Clinical practiceClinical and Intestinal Ultrasound Findings in Mitochondrial Neurogastrointestinal Encephalomyopathy:Report of One Case.
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae SinicaeCancer and benign tumors in myotonic dystrophy, facioscapulohumeral muscular dystrophy, and oculopharyngeal muscular dystrophy: a 23-year, single-center, retrospective study.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyPolyalanine Expansion in PABPN1 Alters the Structure and Dynamics of Its Nuclear Aggregates in Differentiated Muscle Cells.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyOculopharyngeal Muscular Dystrophy Is Not Responsive to Immunosuppressant Treatment.
Journal of clinical neuromuscular diseaseCurrent understanding of skeletal muscle repeat expansion disorders.
Current opinion in neurologyDouble seronegative myasthenia gravis and mimics: a retrospective cross-sectional study by two tertiary centers in the Southern Italy.
Journal of neurologyLate-onset Pompe disease mimicking oculopharyngeal muscular dystrophy.
Practical neurologyOculopharyngeal Muscular Dystrophy Responding to Treatment: A Report of 2 Cases.
Journal of clinical neuromuscular diseaseMitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Phenotype Associated With Unique Compound Heterozygous POLG Variants: Case Presentation and Review of the Literature.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyPlasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy.
Journal of neuromuscular diseasesHistopathologic Marks of Tongue in a Mouse Model of Oculopharyngeal Muscular Dystrophy Suggest Biomechanical Defects.
The American journal of pathologyMeasurement Properties of the Dysphagiameter for the Assessment of Dysphagia in Oculopharyngeal Muscular Dystrophy.
DysphagiaRare digestive disease: Mitochondrial neurogastrointestinal encephalomyopathy, review of the literature.
Journal of digestive diseasesOculopharyngeal muscular dystrophy, myasthenia gravis, systemic lupus erythematosus: overlap and interactions.
BMJ case reportsDifference in Drinking Times as a Function of Liquid Consistency in Adults With Oculopharyngeal Muscular Dystrophy: A Comparative Study Using Bostwick Consistometer and IDDSI Flow Test Methods.
Journal of texture studiesA Review of Muscular Dystrophies.
Anesthesia progressSocial Participation Restrictions and Explanatory Factors in Adults with Oculopharyngeal Muscular Dystrophy.
Canadian journal of occupational therapy. Revue canadienne d'ergotherapieDifferent outcomes of endurance and resistance exercise in skeletal muscles of Oculopharyngeal muscular dystrophy.
Journal of cachexia, sarcopenia and muscleOculopharyngeal Muscular Dystrophy: A Case Report From Puerto Rico.
CureusThe Role and Significance of Trace Elements in Oral Submucosal Fibrosis.
CureusAChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologySuccessful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report.
Annals of transplantationDynamic Reconstruction Using Bilateral Lengthening Temporalis Myoplasty for Facial Palsies in Patients with Hereditary Skin Laxity.
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European journal of translational myologyPABPN1 loss-of-function causes APA-shift in oculopharyngeal muscular dystrophy.
HGG advancesMuscle MRI in Patients With Oculopharyngeal Muscular Dystrophy: A Longitudinal Study.
NeurologyA rare cause of anejaculation: mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome: case report.
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Clinical neurology and neurosurgeryHNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype.
Neuromuscular disorders : NMDEmerging and established biomarkers of oculopharyngeal muscular dystrophy.
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Muscle & nerveCharacteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy.
Journal of neurologyOculopharyngeal muscular dystrophy mutations link the RNA-binding protein HNRNPQ to autophagosome biogenesis.
Aging cellMitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease.
Archives of Iranian medicineChoked: A Case Report of Oculopharyngeal Muscular Dystrophy Mimicking Hypothyroidism From the Philippines.
CureusIndications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review.
Journal of neuromuscular diseasesPABPN1 aggregation is driven by Ala expansion and poly(A)-RNA binding, leading to CFIm25 sequestration that impairs alternative polyadenylation.
The Journal of biological chemistryRe: "Oculopharyngeal Muscular Dystrophy Ptosis, Mueller's Muscle Involvement, and a Review of Management Over 34 Years".
Ophthalmic plastic and reconstructive surgeryNovel Metabolomic Approach for Identifying Pathology-Specific Biomarkers in Rare Diseases: A Case Study in Oculopharyngeal Muscular Dystrophy (OPMD).
MetabolitesEye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders.
Journal of neuromuscular diseasesA Novel Mutation in an MNGIE Patient Presenting with More Prominent Neurological Symptoms than GI Symptoms.
Neurology IndiaA very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy.
Clinical neurology and neurosurgeryHematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome.
Pediatric blood & cancerThe small compound Icerguastat reduces muscle defects in oculopharyngeal muscular dystrophy through the PERK pathway of the unfolded protein response.
Open biologyThymidine Phosphorylase Deficiency or Inhibition Preserves Cardiac Function in Mice With Acute Myocardial Infarction.
Journal of the American Heart AssociationA Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion.
Journal of neuromuscular diseasesFrequency and type of cancers in myotonic dystrophy: A retrospective cross-sectional study.
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Neuromuscular disorders : NMDThe phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.
Annals of clinical and translational neurologyCommon pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
Annals of clinical and translational neurology[Nuclear aggregates in oculopharyngeal muscular dystrophy].
Medecine sciences : M/SIntranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.
Acta neuropathologica communicationsQuantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD).
Neuromuscular disorders : NMDTransillumination Assisted Cricopharyngeal Myotomy.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaSystemic Delivery of a Monoclonal Antibody to Immunologically Block Myostatin in the A17 Mouse Model of OPMD.
Methods in molecular biology (Clifton, N.J.)Pharyngeal pathology in a mouse model of oculopharyngeal muscular dystrophy is associated with impaired basal autophagy in myoblasts.
Frontiers in cell and developmental biologyDiagnosing myasthenia gravis using orthoptic measurements: assessing extraocular muscle fatiguability.
Journal of neurology, neurosurgery, and psychiatryAssessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Acta neuropathologicaA review of surgical management of progressive myogenic ptosis.
Orbit (Amsterdam, Netherlands)What Is in the Myopathy Literature?
Journal of clinical neuromuscular diseaseMuscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy.
Muscle & nerveOculopharyngeal muscular dystrophy coexisting with myasthenia gravis.
Practical neurologyHeterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Nature communicationsA negative feedback loop between fibroadipogenic progenitors and muscle fibres involving endothelin promotes human muscle fibrosis.
Journal of cachexia, sarcopenia and muscleBotulinum toxin treatment improves dysphagia in patients with oculopharyngeal muscular dystrophy and sporadic inclusion body myositis.
Journal of neurologyPatulous Eustachian Tube Patients With Oculopharyngeal Muscular Dystrophy.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyClinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands.
European journal of neurologyOculopharyngeal Muscular Dystrophy Ptosis, Mueller's Muscle Involvement, and a Review of Management Over 34 Years.
Ophthalmic plastic and reconstructive surgeryActivation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy.
PLoS geneticsIntranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.
Neuropathology and applied neurobiologyImportance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases.
Human heredityProcollagen C-proteinase enhancer-1 (PCPE-1), a potential biomarker and therapeutic target for fibrosis.
Matrix biology plusLongitudinal Assessment of Strength, Functional Capacity, Oropharyngeal Function, and Quality of Life in Oculopharyngeal Muscular Dystrophy.
NeurologyBehavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy.
Journal of neuromuscular diseasesCross-cultural adaptation of the SWAL-QOL and the Sydney Swallow Questionnaire (SSQ) into French-Canadian and preliminary assessment for their use in an oculopharyngeal muscular dystrophy (OPMD) population.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitationA Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation.
BMC neurologyIntensive nutrition support may benefit patients with a rare mitochondrial disorder.
Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral NutritionGuidelines for genetic testing of muscle and neuromuscular junction disorders.
Muscle & nerveClinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
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Canadian journal of dietetic practice and research : a publication of Dietitians of Canada = Revue canadienne de la pratique et de la recherche en dietetique : une publication des Dietetistes du CanadaRecent Progress in Oculopharyngeal Muscular Dystrophy.
Journal of clinical medicineBB-301: a silence and replace AAV-based vector for the treatment of oculopharyngeal muscular dystrophy.
Molecular therapy. Nucleic acidsRegional anesthesia in two consecutive surgeries in a patient with mitochondrial neurogastrointestinal encephalomyopathy: a case report.
Brazilian journal of anesthesiology (Elsevier)Anti-prion Drugs Targeting the Protein Folding Activity of the Ribosome Reduce PABPN1 Aggregation.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsLate-onset myopathies: clinical features and diagnosis.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyFourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies.
GenesCGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
Acta neuropathologica communicationsCorrelation Between Quantitative MRI and Muscle Histopathology in Muscle Biopsies from Healthy Controls and Patients with IBM, FSHD and OPMD.
Journal of neuromuscular diseasesAge-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy.
International journal of molecular sciencesSwallowing, Chewing and Speaking: Frequently Impaired in Oculopharyngeal Muscular Dystrophy.
Journal of neuromuscular diseasesEfficacy of Botulinum Toxin for Treating Sialorrhea in Neuromuscular Conditions.
Frontiers in neurologyMyopathies featuring early or prominent dysphagia.
Muscle & nerveThirty years of translational research in Mobility Medicine: Collection of abstracts of the 2020 Padua Muscle Days.
European journal of translational myologyA study of impairments in oculopharyngeal muscular dystrophy.
Muscle & nerveInhibition of Myostatin Reduces Collagen Deposition in a Mouse Model of Oculopharyngeal Muscular Dystrophy (OPMD) With Established Disease.
Frontiers in physiologySevere Ocular Complications After Blepharoptosis Correction in the Oculopharyngeal Muscular Dystrophy Patient: Literature Review and Case Presentation.
Annals of plastic surgeryValue of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy.
European journal of neurologyOculopharyngeal Muscular Dystrophy, an Often Misdiagnosed Neuromuscular Disorder: A Southern California Experience.
Journal of clinical neuromuscular diseaseOculopharyngeal muscular dystrophy (OPMD) and dementia in a 75-year-old female.
BMJ case reportsPatient-reported disease burden in oculopharyngeal muscular dystrophy.
Muscle & nerveEstablished PABPN1 intranuclear inclusions in OPMD muscle can be efficiently reversed by AAV-mediated knockdown and replacement of mutant expanded PABPN1.
Human molecular geneticsAdvances in imaging of brain abnormalities in neuromuscular disease.
Therapeutic advances in neurological disordersInhibition of myostatin improves muscle atrophy in oculopharyngeal muscular dystrophy (OPMD).
Journal of cachexia, sarcopenia and muscleResistance towards nondepolarising muscle relaxants: prolonged onset time: A systematic review.
European journal of anaesthesiologyMitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy.
Laboratory investigation; a journal of technical methods and pathologyAging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyProteomic analysis reveals that wildtype and alanine-expanded nuclear poly(A)-binding protein exhibit differential interactions in skeletal muscle.
The Journal of biological chemistryRNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement.
Molecular therapy. Nucleic acidsA non-surgical alternative to the management of myopathic ptosis.
Orbit (Amsterdam, Netherlands)Pharmacological modulation of the ER stress response ameliorates oculopharyngeal muscular dystrophy.
Human molecular geneticsA Co-occurrence of Trinucleotide Repeat Disorders.
Movement disorders clinical practiceThe requirement for a disease-specific patient-reported outcome measure of dysphagia in oculopharyngeal muscular dystrophy.
Muscle & nerveMuscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
Journal of neurology, neurosurgery, and psychiatryDiagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools.
European journal of human genetics : EJHGDysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report.
MedicineA mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation.
Clinical dysmorphologyNext generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.
Clinica chimica acta; international journal of clinical chemistryDisturbed Ca2+ Homeostasis in Muscle-Wasting Disorders.
Advances in experimental medicine and biologyLeukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaPathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
PloS oneOculopharyngeal Muscular Dystrophy in Singapore: Not So Rare.
Annals of the Academy of Medicine, SingaporeValproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy.
NeurologyPost-transcriptional regulation of Pabpn1 by the RNA binding protein HuR.
Nucleic acids researchA Preliminary Videofluoroscopic Investigation of Swallowing Physiology and Function in Individuals with Oculopharyngeal Muscular Dystrophy (OPMD).
DysphagiaUpholding Ethical Decision Making in Children With Life Limiting Illnesses.
Comprehensive child and adolescent nursingOropharyngeal dysphagia profiles in individuals with oculopharyngeal muscular dystrophy.
Neurogastroenterology and motilityInvolvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophy.
Neuromuscular disorders : NMDDysfunctional transcripts are formed by alternative polyadenylation in OPMD.
OncotargetNuclear poly(A) binding protein 1 (PABPN1) and Matrin3 interact in muscle cells and regulate RNA processing.
Nucleic acids researchGlobal muscular dystrophy research: A 25-year bibliometric perspective.
Neurology IndiaTransient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation.
BMJ case reportsHemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.
Orphanet journal of rare diseasesOculopharyngeal muscular dystrophy misdiagnosed as myasthenia gravis: Case report and review of literature.
Iranian journal of neurologyAn alanine expanded PABPN1 causes increased utilization of intronic polyadenylation sites.
NPJ aging and mechanisms of diseaseOculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.
Genetic testing and molecular biomarkersNovel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology.
Human molecular geneticsOptimization of genetic diagnosis of oculopharyngeal muscular dystrophy and its application in the analysis of a family pedigree from La Palma Island (Canary Islands, Spain).
Medicina clinicaMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) mimicking refractory celiac disease.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverPABPN1 gene therapy for oculopharyngeal muscular dystrophy.
Nature communicationsFunctional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1.
The Journal of physiologyLiver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy.
MitochondrionExpanded polyalanine tracts function as nuclear export signals and promote protein mislocalization via eEF1A1 factor.
The Journal of biological chemistryMyogenic abnormalities in intensive care can hide an uncommon diagnosis.
Acta neurologica BelgicaRecent advances in liver transplantation for metabolic disease.
Journal of inherited metabolic diseaseCorrelation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.
NeurologyCharacterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).
Journal of investigative medicine : the official publication of the American Federation for Clinical ResearchAn Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy.
Journal of neuromuscular diseasesIntranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy.
Journal of neuromuscular diseasesUtility of surgical myotomy in the dysphagia due to oculopharyngeal dystrophy.
Revista espanola de enfermedades digestivasDysphagia-related quality of life in oculopharyngeal muscular dystrophy: Psychometric properties of the SWAL-QOL instrument.
Muscle & nerveHomozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.
Investigative ophthalmology & visual scienceA novel thymidine phosphorylase mutation in a Chinese MNGIE patient.
Acta neurologica BelgicaWhole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
European journal of medical geneticsNuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing.
Nucleic acids researchCytokine genes as potential biomarkers for muscle weakness in OPMD.
Human molecular geneticsIncidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.
Journal of pediatric gastroenterology and nutritionLiver transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Annals of neurology[Haplotype Analysis of Oculopharyngeal Muscular Dystrophy (OPMD) Locus in Yakutia].
GenetikaNovel sequence variations in the thymidine phosphorylase gene causing mitochondrial neurogastrointestinal encephalopathy.
Clinical dysmorphologyNuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene.
Neuromuscular disorders : NMDPearls & Oy-sters: Mitochondrial neurogastrointestinal encephalomyopathy: Diagnosis and response to peritoneal dialysis.
NeurologyLong-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.
Human gene therapyThe Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments.
Neuromuscular disorders : NMDComparison of Two Polypropylene Frontalis Suspension Techniques in 92 Patients With Oculopharyngeal Muscular Dystrophy.
Ophthalmic plastic and reconstructive surgeryPotentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.
Free radical biology & medicineMitochondrial Neurogastrointestinal Encephalopathy: Clinical, Biochemical and Molecular Study in Three Egyptian Patients.
Genetic counseling (Geneva, Switzerland)Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report.
Brazilian journal of otorhinolaryngologyDropped-head in recessive oculopharyngeal muscular dystrophy.
Neuromuscular disorders : NMDRole of Oxidized Protein Repair in Human Skeletal Muscle.
Free radical biology & medicineThe relationship between physical symptoms and health-related quality of life in oculopharyngeal muscular dystrophy.
Muscle & nerveA South African family with oculopharyngeal muscular dystrophy: Clinical and molecular genetic characteristics.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskundeThe Inhibition of Heat Shock Protein 90 Facilitates the Degradation of Poly-Alanine Expanded Poly (A) Binding Protein Nuclear 1 via the Carboxyl Terminus of Heat Shock Protein 70-Interacting Protein.
PloS oneConformational stability of the RNP domain controls fibril formation of PABPN1.
Protein science : a publication of the Protein SocietyAllogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Brain : a journal of neurologyMitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches.
EMBO molecular medicinePABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling.
Journal of neuromuscular diseasesRegulated Intron Retention and Nuclear Pre-mRNA Decay Contribute to PABPN1 Autoregulation.
Molecular and cellular biologyConformational behavior of polyalanine peptides with and without protecting groups of varying chain lengths: population of PP-II structure!
Journal of molecular modelingAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Associação brasileira dedicada a Distrofias musculares.
Associação brasileira dedicada a Doença de Pompe.
Fundada pela geneticista Mayana Zatz.
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Distrofia muscular óculo-faríngea
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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.
- Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.
- Oculopharyngeal muscular dystrophy (OPMD) associated alanine expansion impairs the function of the nuclear polyadenosine RNA binding protein PABPN1 as revealed by proximity labeling and comparative proteomics.
- Evaluation of Dysphagia in Myositis and Muscular Dystrophy Using Real-Time MRI and Quantitative Muscle Ultrasound.
- Wernicke Encephalopathy Associated with Malabsorption in Degos Disease.
- Recurrent Pneumonia in a Patient With Oculopharyngeal Muscular Dystrophy (OPMD) due to GCN Expansion in the PABPN1 Gene: A Diagnostic Challenge.
- Hidden diagnoses among patients with double seronegative myasthenia gravis.
- Mucoepidermoid carcinoma of the thymus: a case report and review of literature.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:270(Orphanet)
- MONDO:0008116(MONDO)
- GARD:7245(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3042171(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
