A Miopatia Necrosante Imunomediada (MNI), também denominada "miopatia autoimune associada à estatina" também conhecida como miopatia anti-HMGCR, é uma forma muito rara de dano muscular causado pelo sistema imunológico em pessoas que tomam medicamentos com estatina.
Introdução
O que você precisa saber de cara
Miopatia e diabetes mellitus é uma condição rara caracterizada por fraqueza muscular progressiva, amiotrofia proximal e alterações nos reflexos. Pode apresentar demência, intolerância ao exercício e sensibilidade vibratória prejudicada, associada a mutações no gene MT-TE.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 17 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 51 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.
Variantes genéticas (ClinVar)
17 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
10 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 — Miopatia e diabetes mellitus
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Publicações mais relevantes
Heterogeneous phenotype and cardiovascular comorbidities in Swedish patients with spinobulbar muscular atrophy.
Spinobulbar muscular atrophy (SBMA) is an X-linked neuromuscular disorder characterized by adult-onset progressive muscle atrophy, flaccid paresis, and bulbar palsy. In addition, increasing evidence indicates that SBMA is a multisystem disorder with prominent non-motor symptoms, such as sensory neuropathy, androgen insensitivity, and glucose intolerance. This study aimed to further characterize the clinical manifestations and biomarker profile in a large Swedish SBMA cohort. 49 genetically confirmed SBMA patients were identified from a motor neuron disease database at Umeå University Hospital, Sweden. CAG repeat length in the androgen receptor (AR) gene was assessed by RP-PCR. Blood samples were analyzed for cardiovascular and muscle biomarkers. Clinical data were collected from medical records and interviews, with autopsy findings reviewed in two cases. The mean CAG repeat length was 43.1, with a mean age at motor symptom onset of 58.6 years. Notably, 19% of patients initially presented with sensory symptoms. High prevalence of hypertonia (70%), diabetes mellitus (39%), and cardiac disease (38%) was observed. Elevated troponin levels were common, and pNfL (neurofilament light chain in plasma) was elevated in seven patients, likely reflecting combined cerebrovascular and cardiovascular comorbidity. Importantly, two of these seven patients exhibited rapid disease progression, and a concomitant diagnosis of ALS was confirmed histopathologically. This cohort was characterized by a relatively low number of AR gene CAG repeats and a late onset of motor symptoms. Sensory symptoms frequently occurred before motor decline. Cardiovascular disease and diabetes were common comorbidities and, in some cases, preceded neurological symptoms. These findings underscore the need for improved clinical awareness of the heterogeneous presentation of SBMA and support routine cardiovascular monitoring to reduce diagnostic delays and prevent early mortality.
Effectiveness and Safety of Statins in Type 2 Diabetes According to Baseline Cardiovascular Risk : A Target Trial Emulation Study.
Whether statins benefit patients with type 2 diabetes mellitus (T2DM) with low predicted 10-year cardiovascular risk is uncertain. To evaluate the effectiveness and safety of statin initiation for primary prevention among adults with T2DM stratified by predicted 10-year risk for cardiovascular disease (CVD). Cohort study using target trial emulation. U.K. primary care using the IQVIA Medical Research Data database. Persons aged 25 to 84 years with a diagnosis of T2DM between 2005 and 2016 and no history of coronary artery disease, myocardial infarction, stroke, heart failure, myopathy, liver disease, rheumatic heart disease, schizophrenia, or cancer. Statin initiation versus noninitiation, with estimation of the observational analogues of the intention-to-treat effect. Statin initiators were propensity score-matched to noninitiators in a 1:4 ratio within 4 QRISK3 strata of 10-year predicted cardiovascular risk: low (<10%), intermediate (10% to 19%), high (20% to 29%), and very high (≥30%). Absolute risk differences (RDs) and risk ratios (RRs) at 10 years of follow-up for all-cause mortality and major CVD, as well as myopathy and liver dysfunction. Statin initiation was associated with reductions in all-cause mortality and major CVD across QRISK3 strata. In the low-risk stratum, RDs and RRs were -0.53% (95% CI, -0.90% to -0.08%) and 0.80 (95% CI, 0.67 to 0.97), respectively, for all-cause mortality and -0.83% (95% CI, -1.28% to -0.34%) and 0.78 (95% CI, 0.66 to 0.91), respectively, for major CVD. A small increased risk for myopathy was observed in the moderate-risk stratum only, and there was no associated increased risk for liver dysfunction in any stratum. Unmeasured confounding and underascertainment of some hospitalization outcomes. Statin use in T2DM for primary prevention was associated with reductions in all-cause mortality and major CVD across the full spectrum of predicted cardiovascular risk. National Natural Science Foundation of China.
Role of LPC 18:1 in the Lipid Metabolic Response to Combined Vitamin D and Resistance Exercise for Protecting Diabetic Skeletal Muscle Function.
We have previously found that vitamin D and resistance exercise synergistically improve type 2 diabetes mellitus (T2DM)-related skeletal muscle atrophy. This study aims to investigate the effect of varying exercise intensity on synergistic effects of vitamin D and resistance exercise on their efficacy in improving T2DM-induced myopathy and to further elucidate the underlying mechanism. We compared the effects of vitamin D combined with low-, moderate-, and high-intensity resistance exercise on metabolic status and skeletal muscle function. Then, we explored the mechanism through lipidomic analysis in diabetic rats and verified in adults with T2DM. We found that combined intervention of vitamin D and medium-resistivity volume (MRV) exercise most effectively improved glucose metabolism and insulin sensitivity and increased muscular mass and strength, resulting to alleviated gastrocnemius muscle atrophy in diabetic rats. Vitamin D combined with MRV intervention increased expressions of vitamin D receptor, whereas lysophosphatidylcholine acyltransferase 3, activated p38 MAPK, and ERK1/2 signaling pathways suppressed inflammatory responses. Moreover, lipidomic analysis of gastrocnemius muscle indicated that lysophosphatidylcholine (LPC) 18:1 exhibited the most significant restoration after intervention. Notably, in adults with T2DM, reduced changes in plasma LPC 18:1 levels exhibited positive correlations with decreased appendicular skeletal muscle index, upper limb muscle mass, and thigh muscle mass. Our findings suggested that vitamin D combined with MRV intervention has more pronounced effect on improving T2DM-related skeletal muscle atrophy. Additionally, LPC 18:1 may be a key target for regulating skeletal muscle function through p38 MAPK/ERK and inflammatory signaling pathways. These results provide novel insights for the prevention and treatment of T2DM-related skeletal muscle atrophy through lifestyle modifications.
Effects of Diactive-1-Supported Progressive Resistance Training on Body Composition in Youth With Type 1 Diabetes.
Compared to their healthy peers, children and adolescents with type 1 diabetes are at an increased risk of adverse changes in body composition, including increased fat mass along with reductions in lean and bone mass. Although exercise has shown promise in improving body mass index in this population, the individual effects of resistance training on specific body composition parameters remain understudied. The aim of the study was to evaluate the effects of resistance training supported by the mHealth application Diactive-1 on body composition in children and adolescents with type 1 diabetes. Sixty-two participants with type 1 diabetes (aged 8-18 years old; 48% females) participated in a 24-week randomised controlled trial and were assigned to either the usual care group (n = 32) or the exercise group (n = 30). The intervention was delivered via the Diactive-1 app, which generates progressive overload resistance training programmes tailored to real-time glycaemia and provides educational support. Body composition was assessed using anthropometry and dual-energy X-ray absorptiometry, with fat, lean and bone measurements standardised by age, sex and ethnicity. Linear mixed models were used to evaluate between-group differences in change over time under both intention-to-treat (ITT) and per-protocol (PP) approaches. At 24 weeks, in the ITT analysis, the intervention group showed greater gains in lean mass (mean difference [MD] = 0.88 kg; 95% confidence interval [CI] 0.09 to 1.66; Hedges' g = 0.568) and whole-body bone mineral content less head (MD = 32.40 g; 95% CI 6.90 to 57.89; g = 0.644) compared with those in the usual care group. No changes were observed in anthropometric measures, fat mass-related regions or standardised variables (p > 0.05). The risk of probable sarcopenia was lower in the intervention group (relative risk [RR] = 0.17; 95% CI 0.04 to 0.73; Cohen's h = 0.987) than in the usual care group. Findings were directionally consistent in the PP analysis. This intervention increased bone-related outcomes and was associated with modest gains in lean mass and a lower risk of probable sarcopenia in youths with type 1 diabetes. These findings highlight the potential of the Diactive-1 app as an adjunct tool to support musculoskeletal health in youths with type 1 diabetes. ClinicalTrials.gov identifier: NCT06048757.
HMGB1: a key molecule linking chronic inflammation to complications in type 2 diabetes mellitus and a target for exercise intervention.
The pathological process of type 2 diabetes mellitus (T2DM) is closely associated with chronic low-grade inflammation. High mobility group box 1 (HMGB1), a key damage-associated molecular pattern (DAMP), is frequently dysregulated in T2DM and is implicated in promoting insulin resistance (IR), β cell dysfunction, and the progression of multiple complications-including cardiovascular disease, nephropathy, cognitive impairment, myopathy, and dyslipidemia-primarily through activating signaling pathways such as RAGE/TLR4-NF-κB. Exercise, a cornerstone non-pharmacological intervention, effectively mitigates HMGB1-driven pathology through multifaceted mechanisms. These include direct downregulation of HMGB1 expression and suppression of its downstream inflammatory pathways, as well as indirect effects via improved glycemic control, enhancing autophagy, and reduced oxidative stress. This review aims to systematically examine the evidence for the role of HMGB1 in T2DM pathogenesis and its complications, and to evaluate exercise as a potential strategy to target this inflammatory pathway, thereby providing a theoretical framework for future therapeutic approaches.
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Effects of Diactive-1-Supported Progressive Resistance Training on Body Composition in Youth With Type 1 Diabetes.
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Frontiers in endocrinologyStatin Therapy for Primary Prevention and Clinical Outcomes in Adults Aged 80 and Older: A Retrospective Comparative Cohort Study.
Journal of the American Geriatrics SocietyEndoplasmic reticulum stress in skeletal muscle dysfunction of type 2 diabetes: mechanisms and therapeutic implications.
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Journal of the National Medical AssociationClinical importance of simple muscular fitness tests to predict long-term health conditions: a systematic review and meta-analysis of 94 cohort studies.
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Rheumatology (Oxford, England)The value of ultrasound in the evaluation of the type 2 diabetes mellitus related plantar fascia changes.
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International journal of molecular sciencesThe simple task of lifting five kilograms serves as a predictor of age-related disorders in old adults.
Scientific reportsInvolvement of impaired carnitine-induced fatty acid oxidation in experimental and human diabetic kidney disease.
JCI insightEfficacy and Safety of Prolonged Treatment with Pemafibrate plus an HMG-CoA Reductase Inhibitor in Japanese Patients with Type 2 Diabetes Mellitus.
Drug researchEndocrine manifestations and long-term outcomes of patients with mitochondrial diseases.
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The Journal of international medical researchNovel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.
The Journal of clinical endocrinology and metabolismComparative Effectiveness and Safety of Moderate-Intensity Pravastatin Versus Atorvastatin in Patients with Dyslipidemia: A Retrospective Cohort Study Using a Common Data Model of Multicenter Electronic Health Records in South Korea.
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International journal of molecular sciencesMaternal Physical Activity, Fitness, and Body Composition in Women with Gestational Diabetes: A Prospective Study.
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JCEM case reportsRole of DPP-4 and NPY Family Peptides in Gastrointestinal Symptoms Associated with Obesity and Type 2 Diabetes Mellitus.
Medicina (Kaunas, Lithuania)Impact of vitamin D and vitamin D receptor activator in diabetic nephropathy.
Frontiers in clinical diabetes and healthcareCardiovascular risk and cardiac involvement in idiopathic inflammatory myopathies: insights from a cross-sectional Swedish single-centre study.
Scandinavian journal of rheumatologyRetinopathy associated with MELAS syndrome. A case report.
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Scientific reportsNew Insights on the miRNA Role in Diabetic Tendinopathy: Adipose-Derived Mesenchymal Stem Cell Conditioned Medium as a Potential Innovative Epigenetic-Based Therapy for Tendon Healing.
BiomoleculesDeuterium-reinforced polyunsaturated fatty acids protect against muscle atrophy by STZ-induced diabetic mice.
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The Journal of the Association of Physicians of IndiaThe association of muscle weakness with functional disability in older patients with Diabetes mellitus: Measured by three different grip strength thresholds.
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Reviews in endocrine & metabolic disordersAptamer-Conjugated Exosomes Ameliorate Diabetes-Induced Muscle Atrophy by Enhancing SIRT1/FoxO1/3a-Mediated Mitochondrial Function.
Journal of cachexia, sarcopenia and muscleEnhancing diabetic muscle repair through W-GA nanodots: a nanomedicinal approach to ameliorate myopathy in type 2 diabetes.
Burns & traumaThe Role of microRNA-22 in Metabolism.
International journal of molecular sciencesType 2 Diabetes Induces Mitochondrial Dysfunction in Zebrafish Skeletal Muscle Leading to Diabetic Myopathy via the miR-139-5p/NAMPT Pathway.
International journal of molecular sciencesSkeletal muscle disorders as risk factors for type 2 diabetes.
Molecular and cellular endocrinologyICAM1 blockade improves ischemic muscle reperfusion in diabetic mice.
Cardiovascular diabetologyThe Predictors of Dietary Supplement Use Among Women With Musculoskeletal Disease: A Population-Based Complex Sample Designed Study.
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Journal of vascular surgery cases and innovative techniquesTiming of resistance exercise and cardiometabolic outcomes in adults with prediabetes: a secondary analysis.
Journal of applied physiology (Bethesda, Md. : 1985)Association between cardiometabolic diseases and the risk and progression of motor neuron diseases in Sweden: a population-based case-control study.
The Lancet regional health. EuropeAnti-VEGF therapy for proliferative diabetic retinopathy in Kearns-Sayre syndrome.
Documenta ophthalmologica. Advances in ophthalmologySecondary Polymyalgia Rheumatica Following SARS-CoV-2 Infection.
Acta medica OkayamaThyrotoxic Hypokalemic Periodic Paralysis Induced by High-Dose Insulin in an Adolescent Male with Type 1 Diabetes Mellitus.
Hormone research in paediatricsRegulation of injury-induced skeletal myofiber regeneration by glucose transporter 4 (GLUT4).
Skeletal muscleHypermucoviscous Klebsiella pneumoniae presenting as sternocleidomastoid pyomyositis with subsequent lower extremity necrotising fasciitis.
BMJ case reportsDevelopment of a natural rubber latex-based biodevice with mesenchymal stem cells as a potential treatment for skeletal muscle regeneration in gestational diabetes-induced myopathy.
International journal of biological macromoleculesReal-world safety evaluation of atorvastatin: insights from the US FDA adverse event reporting system (FAERS).
Expert opinion on drug safetyAltered sphingolipid profile in response to skeletal muscle injury in a mouse model of type 1 diabetes mellitus.
American journal of physiology. Cell physiologyThe Stimulator of Interferon Genes Deficiency Attenuates Diabetic Myopathy Through Inhibiting NLRP3-Mediated Pyroptosis.
Journal of cachexia, sarcopenia and muscleMuscle regeneration and muscle stem cells in metabolic disease.
Free radical biology & medicine[Negative pressure therapy as complementary treatment in tropical diabetic hand syndrome].
Revista medica del Instituto Mexicano del Seguro SocialExploring differential miRNA expression profiles in muscular and visceral adipose tissue of patients with severe obesity.
International journal of obesity (2005)Investigating the mechanism of supraspinatus tendinopathy induced by type 2 diabetes mellitus in rats using untargeted metabolomics analysis.
BMC musculoskeletal disordersBaicalein Ameliorates Insulin Resistance of HFD/STZ Mice Through Activating PI3K/AKT Signal Pathway of Liver and Skeletal Muscle in a GLP-1R-Dependent Manner.
Antioxidants (Basel, Switzerland)Increased risk of adverse events among patients with vs. without systemic autoimmune rheumatic disease prescribed sodium-glucose cotransporter 2 inhibitors: a retrospective cohort study.
Clinical rheumatologyNo Muscle Left Behind: Cardiac Arrest and Myocarditis in a Patient With Idiopathic Inflammatory Myopathy.
CureusPhenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA.
Archives of endocrinology and metabolismStudy of Rates and Factors Associated to Psychosomatic Syndromes Assessed Using the Diagnostic Criteria for Psychosomatic Research across Different Clinical Settings.
Psychotherapy and psychosomaticsMetformin modulates the TXNIP-NLRP3-GSDMD pathway to improve diabetic bladder dysfunction.
Scientific reports[The diabetic hand - a forgotten complication].
LakartidningenDeciphering the Role of Maternal Microchimerism in Offspring Autoimmunity: A Narrative Review.
Medicina (Kaunas, Lithuania)[Dupuytren's disease : Epidemiology, diagnosis, treatment, outcome].
Orthopadie (Heidelberg, Germany)Tropical Myositis: A Not-So-Tropical Diagnosis in a Febrile Type 1 Diabetic Patient.
WMJ : official publication of the State Medical Society of WisconsinFenofibrate to prevent amputation and reduce vascular complications in patients with diabetes: FENO-PREVENT.
Cardiovascular diabetologyExploring the Overlooked Depression, Anxiety, Insomnia and Fibromyalgia Syndrome Burden in Arab Women with Type 2 Diabetes: New Avenues for Chronic Disease Management.
Medicina (Kaunas, Lithuania)Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease.
GenesStrategies to Address Statin Medication Intolerance Among Patients at Risk of Cardiovascular Disease Identified Through Electronic Health Records: A Literature Review and Pooled Analysis.
Studies in health technology and informaticsLONG-TERM FOLLOW-UP OF A FAMILY WITH A3243G MITOCHONDRIAL SYNDROME.
Retinal cases & brief reportsData-independent LC-MS/MS analysis of ME/CFS plasma reveals a dysregulated coagulation system, endothelial dysfunction, downregulation of complement machinery.
Cardiovascular diabetologyUltrasonographic findings in diabetic cheiroarthropathy: a pilot study.
Scandinavian journal of rheumatologyResponsible Use of Oral Corticosteroids in People with Comorbid Diabetes: An Expert Consensus.
The Journal of the Association of Physicians of IndiaDiabetes with GLP-1R polymorphism (rs3765467) accompanied by myotonic dystrophy: A case of myotonic dystrophy with p.R131Q polymorphism at the glucagon-like peptide-1 receptor (rs3765467) resulting in marked effects of its agonist, dulaglutide.
The American journal of the medical sciences[A case report of a MODY 10 family presenting as hypokalemic periodic paralysis].
Zhonghua nei ke za zhiShoulder muscle weakness and proprioceptive impairments in type 2 diabetes mellitus: exploring correlations for improved clinical management.
PeerJSystemic Deletion of ARRDC4 Improves Cardiac Reserve and Exercise Capacity in Diabetes.
Circulation researchDiabetic myonecrosis complicated by emphysematous pyomyositis and abscess caused by Escherichia coli: a case report.
Journal of medical case reportsA case of extraocular muscle pyomyositis in an elderly patient with diabetes mellitus.
Orbit (Amsterdam, Netherlands)Effect of fibromyalgia on demographic, biochemical, metabolic and inflammatory profiles: a single-centre retrospective study.
Clinical and experimental rheumatologyContribution of circulating Mfge8 to human T2DM and cardiovascular disease.
GeneInflammatory-mediated atrial cardiomyopathy diagnosed using multimodality imaging and successfully treated with prednisolone: a case report.
European heart journal. Case reportsComparative study on muscle function in two different streptozotocin-induced diabetic models.
Acta diabetologicaType 2 diabetes mellitus related sarcopenia: a type of muscle loss distinct from sarcopenia and disuse muscle atrophy.
Frontiers in endocrinologyClinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option.
The American journal of case reportsSarcopenia Prevalence among Hospitalized Patients with Severe Obesity: An Observational Study.
Journal of clinical medicineAn RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease.
Human genomicsIdentifying non-genetic factors associated with trigger finger.
Journal of plastic, reconstructive & aesthetic surgery : JPRASTargeting skeletal muscle health with exercise in people with type 1 diabetes: A protocol for HOMET1D, a prospective observational trial with matched controls.
PloS oneMitochondrial fatty acid beta-oxidation: a possible therapeutic target for skeletal muscle lipotoxicity in peripheral artery disease myopathy.
EXCLI journalCurrent research trends on the effect of diabetes mellitus on rotator cuff tendon healing/tendinopathy.
Archives of orthopaedic and trauma surgeryTargeting Molecular Mechanisms of Obesity- and Type 2 Diabetes Mellitus-Induced Skeletal Muscle Atrophy with Nerve Growth Factor.
International journal of molecular sciencesMethods to predict heart failure in diabetes patients.
Expert review of endocrinology & metabolismMyotonic dystrophy type 1 in South Korea: a comprehensive analysis of cancer and comorbidity risks.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyGene expression alterations of purinergic signaling components in obesity-associated intestinal low-grade inflammation in type 2 diabetes.
Purinergic signallingDevelopments in Hand Surgery: Experience from a Tertiary Hospital of Northern Bangladesh.
Mymensingh medical journal : MMJEffects of statin therapy on diagnoses of new-onset diabetes and worsening glycaemia in large-scale randomised blinded statin trials: an individual participant data meta-analysis.
The lancet. Diabetes & endocrinologyDelayed debridement affects prognosis in patients with purulent flexor tenosynovitis: a retrospective cohort and multivariate analyses.
Archives of orthopaedic and trauma surgeryGC-MS analysis of 4-hydroxyproline: elevated proline hydroxylation in metformin-associated lactic acidosis and metformin-treated Becker muscular dystrophy patients.
Amino acidsThe Association between Objectively Measured Physical Activity and the Prevalence of Comorbidities in Lung Transplant Recipients.
Respiration; international review of thoracic diseasesImpact of L-Arginine on diabetes-induced neuropathy and myopathy: Roles of PAI-1, Irisin, oxidative stress, NF-κβ, autophagy and microRNA-29a.
Tissue & cellMurine MHC-Deficient Nonobese Diabetic Mice Carrying Human HLA-DQ8 Develop Severe Myocarditis and Myositis in Response to Anti-PD-1 Immune Checkpoint Inhibitor Cancer Therapy.
Journal of immunology (Baltimore, Md. : 1950)Potential Benefits and Risks Associated with the Use of Statins.
PharmaceuticsRisk of Hemorrhagic Stroke among Patients Treated with High-Intensity Statins versus Pitavastatin-Ezetimibe: A Population Based Study.
The Tohoku journal of experimental medicineEvaluating different low-density lipoprotein cholesterol thresholds to initiate statin for prevention of cardiovascular diseases in patients with type 2 diabetes mellitus: A target trial emulation study.
Diabetes, obesity & metabolismRNA therapeutics for treatment of diabetes.
Progress in molecular biology and translational scienceRenal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant.
NefrologiaMCC950 Ameliorates Diabetic Muscle Atrophy in Mice by Inhibition of Pyroptosis and Its Synergistic Effect with Aerobic Exercise.
Molecules (Basel, Switzerland)Incidence, Prevalence, and Outcomes of Hand Manifestations in Patients With Diabetes Mellitus: A Comprehensive Literature Review.
Hand (New York, N.Y.)Rhabdomyolysis and acute kidney injury potentiated by a drug-drug interaction between cyclosporine, leflunomide, and rosuvastatin in a kidney transplant recipient: A missed opportunity for pharmacist involvement.
Journal of the American Pharmacists Association : JAPhAA case of exacerbated encephalopathy with stroke-like episodes and lactic acidosis triggered by metformin in a patient with MELAS.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyRheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study.
Pediatric rheumatology online journalPathogenesis and comprehensive treatment strategies of sarcopenia in elderly patients with type 2 diabetes mellitus.
Frontiers in endocrinologyStructural insights into the interactions of repositioning and known drugs for Alzheimer's disease with hen egg white lysozyme by MM-GBSA.
Journal of biomolecular structure & dynamicsMetabolic and other morbid complications in congenital generalized lipodystrophy type 4.
American journal of medical genetics. Part ASpontaneous tendon or ligament ruptures in patients undergoing dialysis: First pediatric case report and literature review.
Seminars in dialysisAmeliorating impact of coenzyme Q10 on the profile of adipokines, cardiomyopathy, and hematological markers correlated with the glucotoxicity sequelae in diabetic rats.
PloS oneHyperglycaemia is a causal risk factor for upper limb pathologies.
International journal of epidemiologyNeutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients.
Neuromuscular disorders : NMDImprovement of Intestinal Pseudo-Obstruction by Total Parenteral Nutrition in a Young Woman With Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes: A Case Report.
CureusAge and sex differences in comorbidities in adult temporomandibular disorders: A cross-sectional study using Korea National Health and Nutrition Examination Survey (KNHANES).
PloS oneBeyond the Cardiovascular Effects of Glucagon-like Peptide-1 Receptor Agonists: Body Slimming and Plaque Stabilization. Are New Statins Born?
BiomoleculesEquilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers.
Experimental cell researchEffects of socioeconomic status on patient-reported outcome after surgically treated trigger finger: a retrospective national registry-based study.
BMJ openEmpagliflozin treatment rescues abnormally reduced Na+ currents in ventricular cardiomyocytes from dystrophin-deficient mdx mice.
American journal of physiology. Heart and circulatory physiologyMyotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyChanging spectrum of primary pyomyositis in North India.
Tropical doctorDeletion of the muscle enriched lncRNA Oip5os1 induces atrial dysfunction in male mice with diabetes.
Physiological reportsIdentifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models.
GeneOptimal Management of Patients with Phlegmonous Esophagitis: A Systematic Review and Meta-Analysis.
Journal of clinical medicineSex-specific associations between skeletal muscle mass and incident diabetes: A population-based cohort study.
Diabetes, obesity & metabolismA gene therapy targeting medium-chain acyl-CoA dehydrogenase (MCAD) did not protect against diabetes-induced cardiac pathology.
Journal of molecular medicine (Berlin, Germany)Intra-articular site-specific distribution of advanced glycation end products in the shoulder of patients with diabetes mellitus having rotator cuff tears.
Molecular biology reportsTherapeutic potential of ginsenoside compound K in managing tenocyte apoptosis and extracellular matrix damage in diabetic tendinopathy.
Tissue & cell55-year-old woman • Myalgias and progressive symmetrical proximal weakness • History of unilateral renal agenesis, type 2 diabetes, and hyperlipidemia • Dx?
The Journal of family practiceCausal influence of muscle weakness on cardiometabolic diseases and osteoporosis.
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.
- Heterogeneous phenotype and cardiovascular comorbidities in Swedish patients with spinobulbar muscular atrophy.
- Effectiveness and Safety of Statins in Type 2 Diabetes According to Baseline Cardiovascular Risk : A Target Trial Emulation Study.
- Role of LPC 18:1 in the Lipid Metabolic Response to Combined Vitamin D and Resistance Exercise for Protecting Diabetic Skeletal Muscle Function.
- Effects of Diactive-1-Supported Progressive Resistance Training on Body Composition in Youth With Type 1 Diabetes.
- HMGB1: a key molecule linking chronic inflammation to complications in type 2 diabetes mellitus and a target for exercise intervention.
- Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2596(Orphanet)
- OMIM OMIM:500002(OMIM)
- MONDO:0010773(MONDO)
- GARD:3881(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55782717(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
