CONTINUUM Lifelong Learning in Neurology最新文献

A Pattern Recognition Approach to Myopathy. 肌病的模式识别方法。

CONTINUUM Lifelong Learning in Neurology Pub Date : 2025-10-01 Epub Date: 2025-10-02 DOI: 10.1212/cont.0000000000001611

Margherita Milone

{"title":"A Pattern Recognition Approach to Myopathy.","authors":"Margherita Milone","doi":"10.1212/cont.0000000000001611","DOIUrl":"https://doi.org/10.1212/cont.0000000000001611","url":null,"abstract":"Objective: This article reviews the clinical elements, muscle involvement patterns, and diagnostic tools that can facilitate the diagnosis of muscle diseases, highlighting their heterogeneity and diagnostic challenges.Latest developments: Increased access to genetic testing, the development of disease biomarkers, and research are expanding the spectrum of inherited and acquired muscle diseases. Muscle disease can exist in isolation or be part of a multisystem proteinopathy affecting other tissues outside skeletal muscle. Pathogenic variants in the same gene can lead to myopathy or peripheral neuropathy, in isolation or combination. This poses diagnostic challenges, especially when the myopathy manifests with distal weakness, mimicking a peripheral neuropathy. Therefore, diagnosis requires a rigorous characterization of the patient's phenotype and correlation with genetic findings. The ever-growing number of gene-specific and pathogenic variant-specific therapies, as well as drugs targeting pathogenic mechanisms of immune-mediated muscle diseases, underscore the importance of providing patients with a specific diagnosis to accelerate care and prevent potential complications. Artificial intelligence technologies in the neuromuscular field are further optimizing the diagnostic process and care of patients with muscle disease.Essential points: Clinical assessment and the integration of clinical and laboratory findings remain key elements for the diagnosis and treatment of most muscle diseases. While genetic testing has replaced muscle biopsy in the diagnosis of many genetic myopathies, muscle biopsy remains crucial for the diagnosis of many acquired muscle diseases and is a tool to investigate the pathogenicity of genetic variants of uncertain significance and clarify disease mechanisms. All efforts should be made to provide patients with the diagnosis of their specific muscle disease as this has a huge impact on patient care and prognosis.","PeriodicalId":52475,"journal":{"name":"CONTINUUM Lifelong Learning in Neurology","volume":"31 5","pages":"1244-1269"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145208156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Muscle Channelopathies and Rhabdomyolysis. 肌肉通道病和横纹肌溶解。

CONTINUUM Lifelong Learning in Neurology Pub Date : 2025-10-01 Epub Date: 2025-10-02 DOI: 10.1212/cont.0000000000001620

Hani Kushlaf

{"title":"Muscle Channelopathies and Rhabdomyolysis.","authors":"Hani Kushlaf","doi":"10.1212/cont.0000000000001620","DOIUrl":"https://doi.org/10.1212/cont.0000000000001620","url":null,"abstract":"Objective: This article describes the clinical approach to rhabdomyolysis and the diagnosis and management of episodic disorders of skeletal muscle including skeletal muscle channelopathies.Latest developments: New gene variants that cause periodic paralysis have been identified. While these are exceedingly rare, they are now included in relevant genetic testing panels. Dantrolene is emerging as an additional option for the treatment of severe muscle stiffness, along with typical sodium channel blockers in sodium channel myotonia. Deep phenotyping in Andersen-Tawil syndrome shows significant heterogeneity with new features such as fasciculations, pain, and fatigue. A normal screening ECG is insufficient to rule out a diagnosis of Andersen-Tawil syndrome. In patients with episodic weakness, Holter monitoring is required to further investigate the possibility of Andersen-Tawil syndrome. Growth/differentiation factor-15 and fibroblast growth factor 21 serve as biomarkers of mitochondrial myopathies and can point to a mitochondrial etiology in patients with rhabdomyolysis. This article also discusses recently identified genetic abnormalities associated with rhabdomyolysis and highlights the current approach for evaluating unprovoked rhabdomyolysis.Essential points: Episodic disorders of skeletal muscles include skeletal muscle channelopathies and rhabdomyolysis. The genetic variants that underlie both disorders can also cause persistent and progressive muscle weakness. The availability and expanded use of genetic testing allow for the identification of new genes causing periodic paralysis and rhabdomyolysis. Diagnostic approaches are evolving due to easier access to and availability of genetic testing. Advances in diagnostic techniques have highlighted the lag in therapeutics for patients with these rare disorders.","PeriodicalId":52475,"journal":{"name":"CONTINUUM Lifelong Learning in Neurology","volume":"31 5","pages":"1409-1436"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145208263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Limb-Girdle Muscular Dystrophies. 四肢带状肌肉萎缩症。

CONTINUUM Lifelong Learning in Neurology Pub Date : 2025-10-01 Epub Date: 2025-10-02 DOI: 10.1212/cont.0000000000001615

Teerin Liewluck

{"title":"Limb-Girdle Muscular Dystrophies.","authors":"Teerin Liewluck","doi":"10.1212/cont.0000000000001615","DOIUrl":"https://doi.org/10.1212/cont.0000000000001615","url":null,"abstract":"Objective: This article reviews the current classification system, common subtypes, differential diagnosis, diagnostic algorithms, current management strategies, and evolving therapeutic areas for limb-girdle muscular dystrophies (LGMDs).Latest developments: There are currently five dominantly inherited LGMDs (LGMD-D1 to D5) and 29 recessively inherited LGMDs (LGMD-R1 to R29). Progress in molecular genetics makes next-generation sequencing gene panels the initial step in diagnosing LGMD and, in some cases, obviates the need for muscle biopsy. The panel should include LGMD genes and genes responsible for other hereditary myopathies and congenital myasthenic syndromes. Whole-exome sequencing or whole-genome sequencing can be performed before or after a muscle biopsy, depending on the specifics of each case. Once a diagnosis of LGMD is established, genetic counseling, symptomatic and supportive care, and cardiopulmonary surveillance remain the cornerstones of management. However, results from preclinical studies and early-stage clinical trials of genetic therapies for common LGMD-R subtypes are promising.Essential points: Progressive proximal weakness and hyperCKemia are hallmark features of LGMDs; however, they are not specific and can also be observed in many acquired and hereditary myopathies. Muscle biopsy is typically reserved for patients with negative or inconclusive genetic testing and can be particularly useful for verifying the pathogenicity of variants of uncertain significance. Advances in molecular genetics and genetic therapies have revolutionized the diagnostic landscape of LGMDs and paved the way for future disease-specific treatments.","PeriodicalId":52475,"journal":{"name":"CONTINUUM Lifelong Learning in Neurology","volume":"31 5","pages":"1344-1371"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145208290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Learning Objectives and Core Competencies. 学习目标和核心竞争力。

CONTINUUM Lifelong Learning in Neurology Pub Date : 2025-10-01 Epub Date: 2025-10-02 DOI: 10.1212/cont.0000000000001623

引用次数: 0

Postreading Self-Assessment and CME Test. 阅读后自我评估和CME测试。

CONTINUUM Lifelong Learning in Neurology Pub Date : 2025-10-01 Epub Date: 2025-10-02 DOI: 10.1212/cont.0000000000001628

Douglas J Gelb, Nuri Jacoby

引用次数: 0

Autoimmune Myasthenia Gravis. 自身免疫性重症肌无力

CONTINUUM Lifelong Learning in Neurology Pub Date : 2025-10-01 Epub Date: 2025-10-02 DOI: 10.1212/cont.0000000000001612

Vern C Juel

引用次数: 0

Issue Overview. 问题概述。

CONTINUUM Lifelong Learning in Neurology Pub Date : 2025-10-01 Epub Date: 2025-10-02 DOI: 10.1212/01.cont.0001168684.04093.60

引用次数: 0

The Fault, Dear Neurologist, is Not in Our Genes. 亲爱的神经学家，错不在我们的基因。

CONTINUUM Lifelong Learning in Neurology Pub Date : 2025-10-01 Epub Date: 2025-10-02 DOI: 10.1212/cont.0000000000001654

Lyell K Jones

引用次数: 0

Myotonic Dystrophy. 肌强直性营养不良。

CONTINUUM Lifelong Learning in Neurology Pub Date : 2025-10-01 Epub Date: 2025-10-02 DOI: 10.1212/cont.0000000000001621

Paloma Gonzalez Perez

{"title":"Myotonic Dystrophy.","authors":"Paloma Gonzalez Perez","doi":"10.1212/cont.0000000000001621","DOIUrl":"https://doi.org/10.1212/cont.0000000000001621","url":null,"abstract":"Objective: This article reviews the genetic basis, pathogenic mechanisms, epidemiology, clinical presentation, multiorgan involvement, and multidisciplinary management of myotonic dystrophy type 1 (DM1) and type 2 (DM2), as well as the differential diagnosis of myotonic disorders (DM versus nondystrophic myotonic disorders) and electrical myotonia.Latest developments: Due to underdiagnosis, the prevalence of DM is likely higher than currently recognized. Patients with late-onset or mild phenotypes with little or no skeletal muscle involvement may never be evaluated by a neurologist and thus never diagnosed. Still, DM1 is the most common muscular dystrophy in adults. Scientific progress in understanding the pathogenic mechanism of DM and its broad and variable phenotype has facilitated the design of gene therapy clinical trials in DM1. Nucleic acid-based therapies that target expanded DNA or RNA are in early-stage clinical development. Although caused by a different genetic variation, DM2 shares a common pathogenic mechanism with DM1, which is hopeful for a cure for both subtypes.Essential points: Neurologists and other clinicians need to recognize DM to ensure prompt diagnosis, effective symptom management, and prevention of life-threatening events. Life-threatening events (eg, sudden death) may occur at any time in the disease course and not necessarily in patients with more severe phenotypes. Investigational drugs may have the potential to have a greater disease-modifying effect when initiated in the early or mild stages of disease, rather than in advanced stages where the therapeutic window may have been missed.","PeriodicalId":52475,"journal":{"name":"CONTINUUM Lifelong Learning in Neurology","volume":"31 5","pages":"1437-1461"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145208319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Inclusion Body Myositis. 包涵体肌炎。

CONTINUUM Lifelong Learning in Neurology Pub Date : 2025-10-01 Epub Date: 2025-10-02 DOI: 10.1212/cont.0000000000001616

Elie Naddaf

{"title":"Inclusion Body Myositis.","authors":"Elie Naddaf","doi":"10.1212/cont.0000000000001616","DOIUrl":"https://doi.org/10.1212/cont.0000000000001616","url":null,"abstract":"Objective: This article addresses the clinical presentation, diagnostic workup, and management of patients with inclusion body myositis (IBM). It also provides an overview of the clinical trial landscape and explores future directions in the pursuit of an effective treatment for the disease.Latest developments: Muscle biopsy remains the cornerstone of the diagnosis, and cytosolic nucleotidase 1A antibodies and muscle imaging have been increasingly used to support the diagnosis. The 2024 European Neuromuscular Centre diagnostic criteria offer a new diagnostic framework that integrates these developments. The clinical trial landscape for IBM remains limited, and the complex nature of the underlying pathophysiology of IBM and other diseases of aging presents a significant challenge for the development of effective treatments.Essential points: IBM is a disease of aging that is more prevalent in males. It is characterized by slowly progressive weakness, predominantly affecting deep finger flexors and quadriceps muscles, with a predilection for swallowing and respiratory muscles. However, this clinical phenotype is not specific to IBM, as other inherited and acquired myopathies may present similarly. Furthermore, atypical presentations of IBM occur and may manifest with a wide range of weakness patterns, most commonly with isolated dysphagia. The diagnosis of IBM requires the integration of historical, clinical, and laboratory data. Management consists of a multidisciplinary approach to address comorbidities and potential complications. Untangling the complexity of aging-related disorders will help advance the field in IBM and facilitate the discovery of effective treatments.","PeriodicalId":52475,"journal":{"name":"CONTINUUM Lifelong Learning in Neurology","volume":"31 5","pages":"1372-1384"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145208171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0