Muscle & Nerve最新文献

Pregnancy in the Era of Disease-Modifying Therapies for Spinal Muscular Atrophy: Considerations From a Case Report. 脊髓性肌萎缩的疾病修饰疗法时代的妊娠：来自一个病例报告的思考。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-04-01 Epub Date: 2025-01-20 DOI: 10.1002/mus.28344

Gabriele Vadi, Sara Loprieno, Francesca Torri, Roberto Chiappini, Lorenzo Fontanelli, Giorgia Coratti, Maria Carmela Pera, Marika Pane, Eugenio Mercuri, Gabriele Siciliano, Giulia Ricci

引用次数: 0

Orbicularis Oculi Stimulated Jitter Analysis in Children With Autoimmune Myasthenia Gravis.

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-04-01 Epub Date: 2025-01-30 DOI: 10.1002/mus.28363

Vishva Natarajan, Sumit Verma

{"title":"Orbicularis Oculi Stimulated Jitter Analysis in Children With Autoimmune Myasthenia Gravis.","authors":"Vishva Natarajan, Sumit Verma","doi":"10.1002/mus.28363","DOIUrl":"10.1002/mus.28363","url":null,"abstract":"Introduction/aims: Stimulated jitter analysis (stim-JA) involves analyzing the variation in time intervals between stimulations and action potentials, expressed as the mean consecutive difference (MCD). The MCD upper limits are derived from adult populations and warrant a re-evaluation in children to accurately diagnose neuromuscular junction (NMJ) defects.Methods: A retrospective chart review was conducted which analyzed orbicularis oculi stim-JA studies performed on children between January 2014 and December 2021. The clinical profile, acetylcholine receptor (AChR), and muscle-specific kinase (MuSK) antibody status as well as stim-JA study results were retrieved. Bootstrapping was applied to the stim-JA studies to derive de novo MCD upper limits.Results: Twenty-seven stim-JA studies were performed on patients aged 3-19 years with either definite myasthenia gravis presentations and NMJ defects (n = 19, 17 AChR+, 2 MuSK+) or those with normal neurological examinations who were seronegative (n = 8). Four hundred ninety-nine apparent single fiber action potentials (ASFAPs) were analyzed with the individual and mean MCD significantly higher in children with autoimmune myasthenia (p < 0.05). Bootstrapping analysis revealed that MCD upper limits of 39 μs for individual MCD and 24 μs for mean MCD significantly improved specificity (p < 0.05) while maintaining sensitivity of the test in distinguishing definite MG NMJ defect from normal NMJ function.Discussion: Stim-JA using revised upper limits may help clinicians avoid the over-diagnosis of NMJ disorders in children. Stim-JA is a safe and well-tolerated method to screen for definite MG in children over 2 years.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"593-599"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical and Electrophysiological Characteristics of 23 French Patients With Neurolymphomatosis. 23例法国神经淋巴瘤患者的临床及电生理特征分析。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-04-01 Epub Date: 2025-01-08 DOI: 10.1002/mus.28343

Dylan Asmani, Jean-Baptiste Chanson, Céline Tard, Juliette Svahn, Antoine Pegat, Armelle Magot, Yann Péréon, Jean-Philippe Camdessanché, Samuel Naudin, Olivier Colin, Guillaume Taieb, Idrissa Coulibaly, Laurent Magy, Simon Frachet

{"title":"Clinical and Electrophysiological Characteristics of 23 French Patients With Neurolymphomatosis.","authors":"Dylan Asmani, Jean-Baptiste Chanson, Céline Tard, Juliette Svahn, Antoine Pegat, Armelle Magot, Yann Péréon, Jean-Philippe Camdessanché, Samuel Naudin, Olivier Colin, Guillaume Taieb, Idrissa Coulibaly, Laurent Magy, Simon Frachet","doi":"10.1002/mus.28343","DOIUrl":"10.1002/mus.28343","url":null,"abstract":"Introduction/aims: Neurolymphomatosis is a hematological condition defined by the direct infiltration of malignant lymphomatous cells into the peripheral nervous system. Since nerve conduction studies may disclose demyelinating features, clinicians may misdiagnose neurolymphomatosis as chronic inflammatory demyelinating polyneuropathy (CIDP). This study aimed to determine whether patients with neurolymphomatosis met the 2021 revised criteria for CIDP.Methods: We retrospectively analyzed 23 patients with primary or secondary neurolymphomatosis from nine French hospitals. We analyzed whether patients with a diagnosis of neurolymphomatosis met the 2010 and 2021 CIDP criteria.Results: 152 motor nerves were analyzed, and conduction blocks were found in 13.8% of them. Eight patients (34.7%) demonstrated at least one conduction block. Other demyelinating parameters fulfilling the 2021 CIDP criteria were rare, including reduced conduction velocities (1.7%), prolonged distal motor latencies (3%), absent F-waves (12.4%), and prolonged F-wave latencies (7.7%). Five patients met the 2010 CIDP criteria, whereas only one met the 2021 CIDP criteria.Discussion: Demyelinating features are rare in neurolymphomatosis, and a conduction block is the most frequent abnormality. Consequently, only one patient met the 2021 criteria for CIDP diagnosis. This is likely attributable to the inclusion of sensory criteria. Furthermore, the new criteria emphasize the importance of identifying red flags, such as pain or monoclonal gammopathy, which could suggest an alternative diagnosis to CIDP. Clinicians should consider neurolymphomatosis in patients who present with red flags or atypical CIDP.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"535-542"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Associations Between End-Stage ALS Care and Specialty Palliative Care: A Hypothesis-Generating Study.

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-04-01 Epub Date: 2025-02-12 DOI: 10.1002/mus.28370

Christi M Lero, Annabelle Yang, Elyse Everett, Kyle A Pitzer, Kelly McCoy Gross, Karla T Washington

{"title":"Associations Between End-Stage ALS Care and Specialty Palliative Care: A Hypothesis-Generating Study.","authors":"Christi M Lero, Annabelle Yang, Elyse Everett, Kyle A Pitzer, Kelly McCoy Gross, Karla T Washington","doi":"10.1002/mus.28370","DOIUrl":"10.1002/mus.28370","url":null,"abstract":"Introduction/aims: Amyotrophic lateral sclerosis (ALS) care is typically delivered via a multidisciplinary approach that may include specialty palliative care (SPC). Opportunities for SPC to enhance ALS care have been identified; however, investigation of these proposed benefits is scant. In this exploratory study, investigators examined associations between receipt of SPC and variables particularly relevant to end-stage ALS.Methods: Researchers reviewed electronic health records for all patients with ALS who received standard ALS care from one Midwestern US academic medical center and died between January 1, 2020, and June 30, 2022 (N = 156). Receipt of SPC, duration of illness, hospice enrollment and length of service, report of a healthcare proxy, documentation of a healthcare proxy, participation in goals of care conversations, and location of death were examined.Results: Patients who received SPC (59%), had lower mean forced vital capacity (FVC) (p < 0.05), and more often used respiratory support (p < 0.001), participated in goals of care conversations (p < 0.001), reported a healthcare proxy (p < 0.01), and enrolled in hospice (p < 0.001) than patients who received standard care alone. No differences between groups were found in duration of illness (mean = 51.7 months), use of assistive feeding, Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) scores (mean = 32.1), documentation of a healthcare proxy, length of hospice stay (mean = 47.3 days), or location of death.Discussion: Clinical characteristics and end-of-life outcome differences between groups support further investigation of the proposed benefits of SPC regarding hospice enrollment, report of healthcare proxies, and documented goals of care conversations.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"632-638"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Electrophysiological Abnormalities in Finger Extension Weakness and DOwnbeat Nystagmus Motor Neuron Disease: Three New Patients and Review of the Literature.

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-04-01 Epub Date: 2025-01-23 DOI: 10.1002/mus.28357

Julian Theuriet, Emilien Bernard, Nathalie Guy, Frédéric Taithe, Cécilia Even, Thierry Maisonobe, Aude Sangaré, Pierre Lardeux, Caroline Froment Tilikete, Philippe Couratier, Timothée Lenglet, Antoine Pegat

{"title":"Electrophysiological Abnormalities in Finger Extension Weakness and DOwnbeat Nystagmus Motor Neuron Disease: Three New Patients and Review of the Literature.","authors":"Julian Theuriet, Emilien Bernard, Nathalie Guy, Frédéric Taithe, Cécilia Even, Thierry Maisonobe, Aude Sangaré, Pierre Lardeux, Caroline Froment Tilikete, Philippe Couratier, Timothée Lenglet, Antoine Pegat","doi":"10.1002/mus.28357","DOIUrl":"10.1002/mus.28357","url":null,"abstract":"Introduction/aims: Finger Extension Weakness and DOwnbeat Nystagmus Motor Neuron Disease (FEWDON-MND) is characterized by motor weakness predominantly affecting finger extension, accompanied by downbeat nystagmus. To date, only 11 patients have been reported. The present study adds a further three and aims to provide a more detailed description of the electrodiagnostic features of these patients.Methods: We present the clinical and electrophysiological features of three French patients from specialized motor neuron centers and review the electrophysiological findings of previously reported patients.Results: These three patients presented with pure motor weakness affecting finger extension and downbeat nystagmus. They exhibited a slowly progressive disease course without respiratory involvement. Nerve conduction studies showed decreased compound muscle action potential amplitudes in the extensor indicis muscles. Abnormal spontaneous activity on needle electromyography (EMG) was rare in two patients, absent in one, and otherwise limited to weak muscles. Additionally, chronic motor axon loss features suggestive of motor neuronopathy were seen in our patients. Importantly, they were also detected in distant asymptomatic muscles.Discussion: The three patients reported here confirm the typical phenotype of FEWDON-MND, characterized by slowly progressive distal motor weakness initially affecting finger extension, associated with downbeat nystagmus. Although chronic motor axon loss features have been found in all reported patients, our three patients show that active denervation can be absent or rare. Thus, finger drop and diffuse chronic neurogenic changes on EMG should lead clinicians to look for downbeat nystagmus and to consider FEWDON-MND.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"644-650"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Are Women Physicians Underrecognized for National Awards in Neuromuscular and Electrodiagnostic Medicine? An Observational Study. 女性医生在神经肌肉和电诊断医学国家奖中被低估了吗？观察性研究。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-04-01 Epub Date: 2025-01-20 DOI: 10.1002/mus.28350

Emma A Ali Bateman, Caitlin Cassidy, Rachel Reardon, Jamie L Fleet

{"title":"Are Women Physicians Underrecognized for National Awards in Neuromuscular and Electrodiagnostic Medicine? An Observational Study.","authors":"Emma A Ali Bateman, Caitlin Cassidy, Rachel Reardon, Jamie L Fleet","doi":"10.1002/mus.28350","DOIUrl":"10.1002/mus.28350","url":null,"abstract":"Introduction/aims: Institutions and organizations, including the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM), have committed to embracing principles of equity, diversity, and inclusion. Notwithstanding this commitment, studies repeatedly demonstrate that women physicians are less likely to receive awards in medicine and research compared to their male counterparts. Whether women physicians are less likely to be recognized with AANEM awards is unknown. The objective of this study was to evaluate whether there is a gender disparity in the AANEM's annual awards.Methods: In this retrospective observational study, lists of award winners were obtained from the AANEM website. Award winners' gender was assigned by three independent reviewers based on searches of public professional websites according to established methodology. Data were analyzed using descriptive statistics.Results: Of 154 physician awards from 1957 to 2023, 24 (15.6%) were awarded to women and 135 (84.4%) to men. The first woman to win an AANEM award was in 2003. As the number of award categories increased over time (from 1 pre-1994 to 9 as of 2019), so too did the proportion of women winners. From 1994 to 2003, 3.4% of AANEM awardees were women compared to 17.1% from 2004 to 2013 and 18% from 2014 to 2023. Even over time, the greatest disparities existed for the Distinguished Physician/Researcher and Lifetime Achievement awards.Discussion: For the AANEM, there is a notable gender gap in physician awards, but this gap has narrowed over time. Further efforts to address systemic barriers contributing to this disparity are warranted.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"639-643"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Establishing Reference Values in the Neuromuscular Ultrasound Laboratory Using the e-Norms Method: A Feasibility Study. 应用电子规范法建立神经肌肉超声实验室参考值的可行性研究。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-04-01 Epub Date: 2025-01-18 DOI: 10.1002/mus.28347

Michał Błaż, Agnieszka Kułaga, Monika Ostrowska, Ewa Maludzińska, Michał Michalski, Joe F Jabre

{"title":"Establishing Reference Values in the Neuromuscular Ultrasound Laboratory Using the e-Norms Method: A Feasibility Study.","authors":"Michał Błaż, Agnieszka Kułaga, Monika Ostrowska, Ewa Maludzińska, Michał Michalski, Joe F Jabre","doi":"10.1002/mus.28347","DOIUrl":"10.1002/mus.28347","url":null,"abstract":"Introduction/aims: The standard procedure to establish reference values in a neuromuscular laboratory involves examining healthy controls, as nerve size varies with the population and muscle echo intensity (EI) is device-specific. We aimed to derive these reference values by extrapolation from a studied sample (the e-norms method), compare them with published reference values, and determine their diagnostic accuracy.Methods: We retrospectively analyzed data from consecutive patients who underwent nerve and/or muscle ultrasound in our ultrasound laboratory, which is a tertiary referral center for neuromuscular diseases in Southern Poland in the years 2018-2023. We plotted the cross-sectional area (CSA) of the nerve segments and EI of the individual muscles and derived descriptive statistics from the plateau of the e-norms curve. We compared the mean difference of the nerve size to other studies and determined the ability of the muscle EI to discriminate myopathic versus healthy subjects using receiver operator characteristics curves.Results: We analyzed 1124 nerves and 1154 muscles from 109 and 99 subjects, respectively. The derived reference values for nerve CSA were mostly concordant with other studies, including all nerve segments in the legs and with the exception of compression sites and the most proximal nerve segments in the arms. Using the reference values for muscle EI established with the e-norms method, we were able to discriminate myopathic from healthy subjects with 85% sensitivity and 92% specificity.Discussion: The e-norms is a feasible method to establish reference values in the neuromuscular ultrasound laboratory.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"543-551"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identifying Daytime Hypercapnia Using Transcutaneous Carbon Dioxide Monitoring in Patients With Amyotrophic Lateral Sclerosis.

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-04-01 Epub Date: 2025-02-12 DOI: 10.1002/mus.28366

Alexander H Morrison, Jose Victor Jimenez, Jesse Y Hsu, Lauren Elman, Philip J Choi, Jason Ackrivo

{"title":"Identifying Daytime Hypercapnia Using Transcutaneous Carbon Dioxide Monitoring in Patients With Amyotrophic Lateral Sclerosis.","authors":"Alexander H Morrison, Jose Victor Jimenez, Jesse Y Hsu, Lauren Elman, Philip J Choi, Jason Ackrivo","doi":"10.1002/mus.28366","DOIUrl":"10.1002/mus.28366","url":null,"abstract":"Introduction/aims: Respiratory failure from hypoventilation is the most common cause of death in amyotrophic lateral sclerosis (ALS). However, ALS care rarely assesses hypercapnia, a physiologic measure of hypoventilation. We investigated the prevalence and clinical significance of daytime hypercapnia measured by transcutaneous carbon dioxide (tcCO2) monitoring in patients with ALS.Methods: This retrospective study included patients seen at two ALS clinics in the United States between 2012 and 2024 who had tcCO2 measured concurrently with pulmonary function tests (PFTs), which included forced vital capacity (FVC) and, at one site, maximum inspiratory pressure (MIP). We assessed the prevalence of hypercapnia (tcCO2 > 45 mmHg), the sensitivity and specificity of patient symptoms and PFTs for hypercapnia, and the relationship between hypercapnia and survival.Results: Daytime hypercapnia was present in 33/328 (10%) patients at baseline. Hypercapnia was associated with an increased rate of death (aHR 2.1, 95% CI 1.4-3.3). Orthopnea or dyspnea was 70% sensitive for hypercapnia (95% CI 51%-84%). Absolute value of MIP (|MIP|) < 60 cmH2O was 95% sensitive (95% CI 74%-100%) and 22% specific (95% CI 16%-30%), FVC < 50% predicted was 33% sensitive (95% CI 18%-52%) and 82% specific (95% CI 78%-87%), and FVC < 80% predicted was 85% sensitive (95% CI 68%-95%) and 31% specific (95% CI 26%-36%) for hypercapnia.Discussion: TcCO2 monitoring identified strengths and weaknesses of PFTs in identifying hypercapnia in ALS. We found high sensitivity of |MIP| < 60 cmH2O and FVC < 80% predicted and high specificity of FVC < 50% predicted. Prospective studies should investigate the optimal clinical role for tcCO2.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"611-619"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Amyotrophic lateral sclerosis represents corticomotoneuronal system failure. 肌萎缩性脊髓侧索硬化症代表着皮质酮体神经元系统的衰竭。

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-04-01 Epub Date: 2024-11-07 DOI: 10.1002/mus.28290

Andrew Eisen, Steve Vucic, Matthew C Kiernan

{"title":"Amyotrophic lateral sclerosis represents corticomotoneuronal system failure.","authors":"Andrew Eisen, Steve Vucic, Matthew C Kiernan","doi":"10.1002/mus.28290","DOIUrl":"10.1002/mus.28290","url":null,"abstract":"Several decades have passed since the anterograde corticomotoneuronal hypothesis for amyotrophic lateral sclerosis (ALS) was proposed. The intervening years have witnessed its emergent support based on anatomical, pathological, physiological, neuroimaging, and molecular biological studies. The evolution of an extensive corticomotoneuronal system appears restricted to the human species, with ALS representing a uniquely human disease. While some, very select non-human primates have limited corticomotoneuronal projections, these tend to be absent in all other animals. From a general perspective, the early clinical features of ALS may be considered to reflect failure of the corticomotoneuronal system. The characteristic loss of skilled motor dexterity involving the limbs, and speech impairment through progressive bulbar dysfunction specifically involve those motor units having the strongest corticomotoneuronal projections. A similar explanation likely underlies the unique \"split phenotypes\" that have now been well characterized in ALS. Large Betz cells and other pyramidal corticomotoneuronal projecting neurons, with their extensive dendritic arborization, are particularly vulnerable to the elements of the ALS exposome such as aging, environmental stress and lifestyle changes. Progressive failure of the proteosome impairs nucleocytoplasmic shuffling and induces toxic but soluble TDP-43 to aggregate in corticomotoneurons. Betz cell failure is further accentuated through dysfunction of its profuse dendritic arborizations. Clarification of system specific genomes and neural networks will likely promote the initiation of precision medicine approaches directed to support the key structure that underlies the neurological manifestations of ALS, the corticomotoneuronal system.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"499-511"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142605720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Incidence of Radiologically Confirmed Fractures in Adults With Duchenne Muscular Dystrophy.

IF 2.8 3区医学

Muscle & Nerve Pub Date : 2025-04-01 Epub Date: 2025-01-23 DOI: 10.1002/mus.28355

Gavin Langlands, Jennifer McKechnie, Maria E Farrugia, Sze Choong Wong

{"title":"Incidence of Radiologically Confirmed Fractures in Adults With Duchenne Muscular Dystrophy.","authors":"Gavin Langlands, Jennifer McKechnie, Maria E Farrugia, Sze Choong Wong","doi":"10.1002/mus.28355","DOIUrl":"10.1002/mus.28355","url":null,"abstract":"Introduction/aims: An increased risk of low trauma fractures is well documented in children and adolescents with duchenne muscular dystrophy (DMD). There is limited evidence regarding the fracture incidence of adults with DMD. The aim of this study was to examine radiologically confirmed fractures in adults with DMD and review bone health monitoring.Methods: This was a retrospective review of all adult males ≥ 16 years with DMD under the care of adult physicians in the West of Scotland (2013-2022). Information regarding fractures, bone health monitoring, and bisphosphonate therapy was collected.Results: Thirty-six men (median age at first visit 18.8 years) with DMD were included. Twelve were taking corticosteroids at first review, and a further 12 had previously been taking corticosteroids that were discontinued in childhood or adolescence. The fracture incidence rate was higher in the corticosteroid group (888.9 per 10,000 person years (95% CI 242.2-2275.9)) than in those not on corticosteroids (156.3 per 10,000 person years (95% CI 32.2-456.6)). Eighteen had lateral spine radiographs for vertebral fracture assessment and 15 had a DXA scan for bone density assessment during the follow-up period.Discussion: The fracture incidence in adult men with DMD is more than double that of UK men aged 18-49 years old, with an even higher incidence in those treated with corticosteroids. Fewer than half of the study population underwent bone monitoring. There is a need for enhanced clinical guidance for the monitoring and management of osteoporosis during transition and throughout adulthood.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"558-563"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0