Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology最新文献_第2页

Cardiac surveillance in the era of Duvyzat: do we need to do more? Duvyzat时代的心脏监测：我们还需要做更多吗？

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-12-01 DOI: 10.36185/2532-1900-1886

Marika Pane, Anna Capasso, Chiara Arpaia, Romina Venditti, Emilio Albamonte, Rossella D'Alessandro, Federica Ricci, Adele D'Amico, Michela Catteruccia, Michele Tosi, Federica Trucco, Chiara Panicucci, Riccardo Masson, Claudia Dosi, Stefano Parravicini, Maria Sframeli, Luca Bello, Maria Grazia D'Angelo, Francesca Magri, Sonia Messina, Vincenzo Nigro, Claudio Bruno, Giacomo Comi, Valeria Ada Sansone, Lia Crotti, Eugenio Mercuri

引用次数: 0

Giant cell myositis confined to the lower extremities without associated thymoma or myasthenia gravis: a case report. 巨细胞性肌炎局限于下肢，无胸腺瘤或重症肌无力一例报告。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-12-01 DOI: 10.36185/2532-1900-1761

Enrique Elsaca, Felipe Álvarez

{"title":"Giant cell myositis confined to the lower extremities without associated thymoma or myasthenia gravis: a case report.","authors":"Enrique Elsaca, Felipe Álvarez","doi":"10.36185/2532-1900-1761","DOIUrl":"10.36185/2532-1900-1761","url":null,"abstract":"Giant Cell Myositis (GCMm) is an exceptionally rare inflammatory myopathy, historically reported in association with Myasthenia Gravis (MG), Thymoma, or Giant Cell Myocarditis (GCMc). The prognosis is often dictated by the frequently co-occurring, highly lethal GCMc. We describe the case of a 31-year-old male presenting with a three-month history of progressive, painful, and diffuse pseudohypertrophy of the lower extremities. Laboratory findings, including normal creatine kinase, were largely unremarkable, but a muscle biopsy demonstrated the pathognomonic infiltration by multinucleated giant cells. Extensive work-up, including cardiac magnetic resonance imaging and a full autoantibody panel, showed no evidence of cardiac, ocular, or associated thymic disease or MG. This is, to our knowledge, the first reported case of GCMm presenting as an isolated skeletal muscle disease without any known associated systemic conditions, underscoring the importance of considering GCMm in the differential diagnosis for unexplained limb pseudohypertrophy, even in the absence of typical comorbidities or profound muscle weakness.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 4","pages":"143-147"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12958412/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147345964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Severe neonatal presentation of Xp21 contiguous gene deletion: adrenal crisis and neuromuscular involvement. Xp21连续基因缺失的严重新生儿表现：肾上腺危机和神经肌肉受累。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-09-01 DOI: 10.36185/2532-1900-1417

Sandra Stanković, Tatjana Stanković, Milica Ignjatović, Milica Jakovljević, Marija Andrejević

{"title":"Severe neonatal presentation of Xp21 contiguous gene deletion: adrenal crisis and neuromuscular involvement.","authors":"Sandra Stanković, Tatjana Stanković, Milica Ignjatović, Milica Jakovljević, Marija Andrejević","doi":"10.36185/2532-1900-1417","DOIUrl":"10.36185/2532-1900-1417","url":null,"abstract":"Background: Xp21 contiguous gene deletion syndrome is a rare X-linked disorder involving deletions of DMD, GK, and NR0B1 (DAX1), leading to a combination of Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. Diagnosis can be delayed due to overlapping symptoms, especially in critically ill infants.Case reports: We describe two male infants presenting in early life with adrenal insufficiency, electrolyte imbalance, hyperpigmentation, and hypotonia. Biochemical findings included elevated ACTH, low cortisol, high CK, and pseudo-hypertriglyceridemia. In the first case, delayed diagnosis led to sudden death at 7 months. In the second case, early clinical suspicion enabled timely genetic testing and family screening. MLPA revealed DMD gene deletion in both cases. In the second case, molecular karyotyping confirmed deletion at Xp21.3-p21.1; the mother and sister were also carriers.Conclusion: Clinicians should consider Xp21 syndromes in male infants with adrenal insufficiency and neuromuscular or metabolic signs. Early recognition and genetic testing are crucial for accurate diagnosis, effective management, and informed family counseling.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 3","pages":"109-111"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12599579/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The case of a highly trained TRPV4 related scapuloperoneal spinal muscular atrophy patient: a 5-year follow-up. 1例高度训练的TRPV4相关的肩胛骨-腓骨脊髓性肌萎缩患者：5年随访。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-09-01 DOI: 10.36185/2532-1900-1374

Oscar Crisafulli, Matteo Fortunati, Venere Quintiero, Angela Berardinelli, Giuseppe D'Antona

{"title":"The case of a highly trained TRPV4 related scapuloperoneal spinal muscular atrophy patient: a 5-year follow-up.","authors":"Oscar Crisafulli, Matteo Fortunati, Venere Quintiero, Angela Berardinelli, Giuseppe D'Antona","doi":"10.36185/2532-1900-1374","DOIUrl":"10.36185/2532-1900-1374","url":null,"abstract":"Objectives: This case report explores the feasibility and effects of long-term physical exercise (PE) in a patient with TRPV4-related scapuloperoneal spinal muscular atrophy (SPSMA).Methods: We describe a 26-year-old male who regularly engaged in supervised PE since age 21. He underwent annual clinical evaluations and laboratory assessments every 25 months to monitor maximal oxygen consumption (V̇O2max), muscle strength, body composition, and emotional well-being.Results: Over five years, the clinical condition remained stable. The patient showed V̇O2max and handgrip strength values comparable to athletic cohorts; body composition aligned with reference values for age- and sex-matched healthy individuals; and limb muscle strength was preserved over time. Additionally, he maintained an active working life and consistently reported positive emotional well-being throughout the follow-up period.Conclusions: This report provides preliminary data supporting the feasibility and potential benefits of long-term PE in the management of TRPV4-related SPSMA.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 3","pages":"104-108"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12599582/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies. 一种新的深内含子突变扩大了myh7相关肌病的基因型谱。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-09-01 DOI: 10.36185/2532-1900-1282

Andrea Barp, Luca Maria Neri, Lorenzo Maggi, Maria Iascone, Francesca Gualandi

{"title":"A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies.","authors":"Andrea Barp, Luca Maria Neri, Lorenzo Maggi, Maria Iascone, Francesca Gualandi","doi":"10.36185/2532-1900-1282","DOIUrl":"10.36185/2532-1900-1282","url":null,"abstract":"Congenital myopathies are a heterogeneous group of rare inherited muscle disorders. Despite the good sensitivity of whole-exome sequencing in detecting pathogenic variants, many cases remain molecularly unsolved. Here, we present the case of a woman with congenital myopathy that remained unsolved for many years, in which the application of whole-genome sequencing enabled the identification of a novel deep intronic mutation in the MYH7 gene.A 22-year-old woman developed muscle weakness since infancy, with frequent falls, toe-walking, and difficulty climbing stairs. Muscle biopsy revealed atrophy of type 1 fibers relative to type 2, consistent with fiber-type disproportion. After a long \"molecular odyssey,\" whole-genome sequencing performed on the patient-parents trio identified a de novo deep intronic variant in MYH7.This case further underscores the importance of pursuing the search for the causative gene to enable more accurate clinical monitoring and tailored health care.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 3","pages":"89-92"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12599581/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

National diagnostic gaps for TK2 Deficiency in Italy: insights from the AIM Multicenter Survey. 意大利TK2缺乏症的国家诊断差距：来自AIM多中心调查的见解。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-09-01 DOI: 10.36185/2532-1900-1424

Michelangelo Mancuso, Costanza Lamperti, Olimpia Musumeci

{"title":"National diagnostic gaps for TK2 Deficiency in Italy: insights from the AIM Multicenter Survey.","authors":"Michelangelo Mancuso, Costanza Lamperti, Olimpia Musumeci","doi":"10.36185/2532-1900-1424","DOIUrl":"10.36185/2532-1900-1424","url":null,"abstract":"Objective: Thymidine kinase 2 (TK2) deficiency is a rare mitochondrial disease with variable phenotypes and emerging treatments. Prompt diagnosis is essential to optimize patient outcomes and management. To assess the current awareness, diagnostic approaches, and readiness to include TK2 screening in Italian neuromuscular clinical practice.Methods: A nationwide survey was distributed to AIM-affiliated clinicians. The questionnaire assessed TK2 awareness, diagnostic pathways, gene panel content, and attitudes towards screening in unresolved cases.Results: while awareness of TK2 deficiency was almost universal, inclusion of TK2 in genetic panels varied: 85% in metabolic myopathy panels, 56% in LGMD panels. Screening for TK2 in genetically unsolved SMA, FSHD, and OPMD phenotypes was inconsistent.Conclusions: Although awareness of TK2 deficiency is widespread, diagnostic strategies are inconsistent. Standardizing TK2 inclusion in NGS panels and promoting differential screening are key steps toward earlier diagnosis in the view of future treatment options.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 3","pages":"93-95"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12599583/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Twenty-five years of AIM: from the initiative of a small group of myologists to a successful Italian research institution. The story of the Italian Association of Myology. 25年的AIM：从一群骨髓学家的创举到一个成功的意大利研究机构。意大利神话协会的故事。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-09-01 DOI: 10.36185/2532-1900-1712

Tiziana E Mongini, Luisa Politano

引用次数: 0

Comorbid autosomal dominant LDLR- and collagen VI-related disorders. 常染色体显性LDLR和vi型胶原蛋白相关疾病合并症。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-09-01 DOI: 10.36185/2532-1900-1521

Bukola A Olarewaju, David Melville, Judy B Tejon, Khaled I Dweik, George Bcharah, Robert S Platou, Radhika Dhamija, Fadi Shamoun, Mayowa A Osundiji

引用次数: 0

Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain. 西班牙无义突变杜氏肌营养不良患者用阿塔鲁仑治疗的自然史。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-09-01 DOI: 10.36185/2532-1900-1219

Jesús Armijo, Andrés Nascimento, Jesica Expósito, Laura Carrera, Daniel Natera-de Benito, Carlos Ortez

{"title":"Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain.","authors":"Jesús Armijo, Andrés Nascimento, Jesica Expósito, Laura Carrera, Daniel Natera-de Benito, Carlos Ortez","doi":"10.36185/2532-1900-1219","DOIUrl":"10.36185/2532-1900-1219","url":null,"abstract":"Introduction: Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease linked to the X chromosome caused by the lack of functional dystrophin. About 10-15% of cases are caused by nonsense mutations, and their natural history is thought to be similar to DMD by other causes. Ataluren is a new therapeutic option that promotes the readthrough of nonsense mutations leading to the production of functional dystrophin proteins.Objective: To describe the natural history of patients with nonsense mutations DMD (nmDMD) and evaluate the impact of corticosteroids and ataluren on disease progression.Methods: It is a retrospective, longitudinal case-series study of all male patients with nmDMD treated at Sant Joan de Déu Hospital in Barcelona, Spain, since 2007.Results: 28 patients from 3.7 to 22 years old were included. The mean age at symptom onset was 3.5 years, and at genetic diagnosis was 4.5 years. All patients were treated with corticosteroids, and 17 patients also received ataluren. Patients treated with ataluren delayed the loss of ambulation by three years (14 vs 10.9 years). No patients treated with ataluren required non-invasive ventilation.Conclusions: Patients with DMD caused by nonsense mutations present a similar phenotype to those with DMD with other types of mutations. Patients treated with ataluren delayed the loss of ambulation and appeared to maintain upper limb and respiratory function better than those not treated with ataluren.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 3","pages":"96-103"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12599585/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Empowering clinicians with artificial intelligence in hereditary neuromuscular disorders. 在遗传性神经肌肉疾病中赋予临床医生人工智能。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-06-01 DOI: 10.36185/2532-1900-927

Andi Nuredini, Marco Savarese, Filippo Maria Santorelli, Rossella Ginevra Tupler

{"title":"Empowering clinicians with artificial intelligence in hereditary neuromuscular disorders.","authors":"Andi Nuredini, Marco Savarese, Filippo Maria Santorelli, Rossella Ginevra Tupler","doi":"10.36185/2532-1900-927","DOIUrl":"10.36185/2532-1900-927","url":null,"abstract":"Artificial Intelligence (AI) is the ability of machines to perform tasks that typically require human intelligence, such as learning, problem-solving, and decision-making. Its integration into healthcare may revolutionize many areas of medicine, including the diagnosis and management of neuromuscular disorders (NMDs).These disorders, characterized by their clinical and genetical complexity and heterogeneity, demand innovative approaches to improve patient outcomes. Among these approaches, AI-driven solutions hold immense potential. However, the success of these solutions depends on preparing a new generation of clinicians equipped to harness the multifaceted power of AI.One remarkable initiative addressing this need is the CoMPaSS-NMD project, which pioneers an interdisciplinary framework for developing AI-driven strategies to stratify patients using multiple clinical, histopathological, MRI e genetic datasets. By fostering a shared working language and integrating diverse competencies, the project aims to advance knowledge dissemination and bridge gaps between traditional disciplines. This approach is vital for addressing the challenges posed by NMDs, where early diagnosis and personalized treatment plans are critical.To support this mission, the Young Investigator Training (YIT) initiative within CoMPaSS-NMD fosters education and scientific exchange among early-career researchers. By promoting high-quality clinical assessments and multidisciplinary training, YIT prepares a new generation to meet the evolving challenges in NMD care and research.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 2","pages":"62-66"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12250589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0