Muscle & Nerve最新文献

{"title":"Cloudy or Clear? Readability and Content Analysis of Patient Education Materials in Myasthenia Gravis.","authors":"Eleni Drakou, Ali Aziz, Amelia Brown, Michael Holmes, Leslie Delfiner, Daniel José Correa","doi":"10.1002/mus.70185","DOIUrl":"10.1002/mus.70185","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disorder that requires complex treatment decisions and sustained disease self-management. Health literacy is essential for patient understanding of MG, yet online patient education materials (PEMs) have not been systematically studied. This study aimed to evaluate the readability of MG-related PEMs, assess the inclusion of key topics, and identify characteristics associated with more accessible and comprehensive resources.</p><p><strong>Methods: </strong>We conducted a cross-sectional analysis of MG-related PEMs identified through Google and Bing, evaluating readability using the Flesch Reading Ease Score (FRES), Flesch-Kincaid Grade Level (FKGL), and Simple Measure of Gobbledygook (SMOG). Content analysis was conducted for inclusion of key MG topics. PEMs were categorized by organization type, target population age, and geographic location. Statistical tests included Wilcoxon signed-rank, Kruskal-Wallis, Mann-Whitney U, and Fisher's exact test.</p><p><strong>Results: </strong>All 149 PEMs exceeded the recommended 6th-grade reading level (median FRES 41.8, FKGL 11.4, SMOG 12.9; p < 0.001). Community organization PEMs were more readable than academic PEMs (median FKGL 10.4 vs. 11.6; p = 0.02, median FRES 44.5 vs. 39.4; p = 0.01). Frequently included topics were MG definition (94%), symptoms (93%), and immunotherapy (85%), while medications to avoid (30%), myasthenic crisis (62%), and mental health (10%) were the least included. Readability varied by topic, with immunotherapy and thymectomy sections being the most complex.</p><p><strong>Discussion: </strong>MG PEMs are written above recommended readability levels, posing barriers to comprehension. Improving readability and addressing gaps in critical topics, such as medication safety, myasthenic crisis, and mental health could enhance patient understanding and support informed decision-making.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1005-1015"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147372880","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}

{"title":"Motor Function and Growth Outcomes With Early Corticosteroid Initiation in Duchenne Muscular Dystrophy: An Adjusted Cross-Trial Comparison.","authors":"Emma Ciafaloni, Abigail Zion, Joanne Donovan, Megan Freed, Katherine Anderson, Michela Guglieri, Richard S Finkel, Robert C Griggs, Hanane Akbarnejad, James Signorovitch","doi":"10.1002/mus.70201","DOIUrl":"10.1002/mus.70201","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Corticosteroids improve muscle strength and motor function in Duchenne muscular dystrophy (DMD) and are essential to the standard of care. We aimed to quantify effects of earlier versus later corticosteroid initiation on modern measures of motor function among younger patients for whom timeliness of diagnosis, and thus opportunity for treatment, is variable.</p><p><strong>Methods: </strong>We compared patients with DMD aged 4 to < 8 years initiating daily corticosteroids at trial baseline (n = 114; FOR-DMD [NCT01603407]) to those not initiating (n = 42; PolarisDMD [NCT03703882]). Changes in motor function, weight, and height were compared over 12 months between these groups. Baseline prognostic factors were balanced via propensity score weighting.</p><p><strong>Results: </strong>Initiating daily corticosteroids was associated with significantly better 12-month motor function outcomes compared to not initiating, with mean (95% confidence interval) differences of 6.9 (5.5, 8.3) North Star Ambulatory Assessment (NSAA) points, 0.47 (0.36, 0.59) meters/s for 10 m walk/run, and 0.10 (0.08, 0.12) tasks/s for rise from supine, each exceeding minimal clinically important differences. Benefits were consistent across baseline age and motor function subgroups. Weight gain was similar and height gain was lower among corticosteroid-treated patients by 2.0 (1.3, 2.7) cm.</p><p><strong>Discussion: </strong>Given persistent delays between symptom onset and diagnosis in DMD, which contribute to an average diagnosis age of 5 years, these findings underscore the importance of earlier diagnosis to allow time for informed discussions about corticosteroids and to optimize meaningful functional benefits during early developmental years.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1073-1081"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147486621","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}

{"title":"Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis.","authors":"Antonio Edvan Camelo-Filho, Pedro Lucas G S B Lima, Tito B S Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T A Furtado, Ana Lucila Moreira, André L S Pessoa, Paulo R Nóbrega, Pedro Braga-Neto","doi":"10.1002/mus.70221","DOIUrl":"10.1002/mus.70221","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under-recognized in CTX. This study aimed to evaluate the cross-sectional area (CSA) of peripheral nerves in CTX.</p><p><strong>Methods: </strong>Six genetically confirmed CTX patients underwent clinical, electrophysiological, and ultrasonographic evaluations. Clinical severity was assessed using the Scale for the Assessment and Rating of Ataxia (SARA) and the Polyneuropathy Disability (PND) score. Nerve ultrasound was performed at standardized sites of the median, ulnar, tibial, and sural nerves, and at the supraclavicular brachial plexus. CSA values were compared with healthy controls.</p><p><strong>Results: </strong>Nerve conduction studies (NCS) identified demyelinating polyneuropathy in three patients. However, ultrasound showed nerve enlargement in all six, including those with normal NCS. The supraclavicular brachial plexus was enlarged in every patient. In 5 adult patients, enlargement was most consistently observed in the median nerve (4 at the wrist and forearm; 5 at the cubital fossa and upper arm), the ulnar nerve at the upper arm (5), and the fibular nerve at the fibular head (4).</p><p><strong>Discussion: </strong>This study demonstrates that nerve ultrasound can detect peripheral nerve enlargement in CTX, even in preclinical stages of polyneuropathy. Enlargement of peripheral nerves may be a sensitive marker of disease severity and peripheral nerve involvement. The role of nerve ultrasound as a diagnostic tool in CTX is promising, and future longitudinal studies are needed to determine its value in disease monitoring.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1082-1088"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13138356/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147521341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic and Screening Laboratory Tests in the Assessment of Patients With Small Fiber Neuropathy: An Evidence-Based Review-Report of the American Association of Neuromuscular and Electrodiagnostic Medicine Small Fiber Neuropathy Task Force.","authors":"Hans D Katzberg, Yuen So, Thomas Brannagan, John England, Mark Bromberg, William David, Pushpa Narayanaswami","doi":"10.1002/mus.70119","DOIUrl":"10.1002/mus.70119","url":null,"abstract":"<p><p>Small fiber neuropathy (SFN) presents with neuropathic pain, dysesthesia, and autonomic symptoms in the context of normal nerve conduction studies, necessitating specialized diagnostic approaches. This evidence-based review by the AANEM SFN Task Force evaluates the diagnostic utility of ancillary tests and appropriate screening laboratory investigations in the assessment of SFN. A comprehensive literature review was conducted using OVID MEDLINE and EMBASE from 1966 to January 2023. Studies were selected based on prespecified inclusion criteria requiring clinical symptoms consistent with SFN and normal large fiber conduction studies. Articles were independently reviewed and graded for evidence quality by multiple raters. Thirteen diagnostic and two laboratory screening studies met criteria. Skin punch biopsy assessing intraepidermal nerve fiber density showed Class II evidence (sensitivity 74%-78%, specificity 65%-80%). Additional metrics included intraepidermal fiber length and inter-fiber distance. Corneal confocal microscopy (CCM) showed potential (Class III) but lacked validation in isolated SFN. Indirect tests (laser/contact heat evoked potentials, cutaneous silent period) had variable sensitivity and high specificity. Lab screening identified metabolic/immune etiologies in up to 64%, though most evidence was Class III. Skin biopsy is the most validated direct diagnostic tool for SFN, though CCM and indirect assessments can aid in diagnosis. No test offers enough sensitivity or specificity to serve as a stand-alone gold standard. Despite limited high-level evidence, screening for metabolic and immune conditions may help identify etiologies. Standardized methods and population studies are needed to improve accuracy.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"952-960"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146157782","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}

{"title":"Expanding the Motor Band Sign in Motor Neuron Disease Using 7T MRI: Visualization of Cortical Layer-Dependent Iron Deposition in the Primary Motor Cortex.","authors":"Jaimin S Shah, Björn Oskarsson, Xiangzhi Zhou, Michael G Heckman, Hanna J Sledge, Gabriel Virador, Donna Parizadeh, Erik H Middlebrooks","doi":"10.1002/mus.70179","DOIUrl":"10.1002/mus.70179","url":null,"abstract":"<p><strong>Introduction/aims: </strong>There are no established biomarkers of upper motor neuron degeneration to aid in the diagnosis of motor neuron disease (MND). This study examines the diagnostic value of the motor band sign as a marker of upper motor neuron degeneration and its relationship to clinical findings in MND.</p><p><strong>Methods: </strong>Records of consecutive patients who underwent 7T magnetic resonance imaging (MRI) between October 2021 and April 2025 for evaluation of MND or other neurologic indications were retrospectively reviewed. Clinical variables and plasma neurofilament light chain (pNfL) levels were recorded. An upper motor neuron score (Mayo UMNS) was derived from reflex scores. Blinded MRI review assessed the degree of susceptibility-weighted imaging (SWI) hypointensity in the hand, foot, and bulbar motor cortex regions.</p><p><strong>Results: </strong>An MBS was observed in 100 of 117 (85.5%) MND patients and in 16 (15.5%) patients with non-MND diagnoses, corresponding to a sensitivity of 85.5% (78.0%-90.7%) and 84.5% (76.2%-90.2%) specificity. The MBS in 78 MND patients (70.9%) preferentially involved the middle and deep cortical layers, giving a trilaminar appearance, while only one non-MND patient had this finding. Mayo UMNS (β = 0.89, p < 0.001), pNfL (β = 0.63, p = 0.033), and age at evaluation (β = 0.68, p = 0.027) were independently associated with the summed SWI score.</p><p><strong>Discussion: </strong>The 7T MRI MBS is a sensitive and specific marker for MND that complements established clinical evaluation. Using 7T, a trilaminar appearance of the motor cortex, reflecting known histopathological changes, can be visualized and may be specific to MND.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"996-1004"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147369810","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}

{"title":"Increased Glycogenin-Exposed Residual Glycogen in Lysosomes Is the Early Pathological Finding in Asymptomatic Pompe Disease.","authors":"Yixin Shi, Na Zhang, Hanhan Sun, Yunyu Wang, Dandan Zhao, Bing Wen, Chuanzhu Yan, Yuying Zhao, Duoling Li","doi":"10.1002/mus.70233","DOIUrl":"10.1002/mus.70233","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Although asymptomatic or pre-symptomatic Pompe disease is increasingly recognized, early skeletal muscle pathology and the role of residual glycogen at this stage remain unclear. Here, we investigated early muscle pathological changes using human samples and an early-stage Gaa ^-/- mouse model, focusing on residual glycogen accumulation.</p><p><strong>Methods: </strong>Clinical, genetic, imaging, and muscle pathological analyses were performed in an asymptomatic Pompe disease patient carrying a novel GAA variant. Skeletal muscle samples from asymptomatic and symptomatic patients, as well as from early-stage and late-stage Gaa ^-/- mice, were analyzed using histochemistry, immunohistochemistry, immunofluorescence, and Western blotting to assess residual glycogen accumulation and lysosome-associated pathways.</p><p><strong>Results: </strong>We identified a novel mutation, c.361C > T, in an asymptomatic Pompe disease patient. Despite the lack of symptoms, residual glycogen accumulated in muscle lysosomes. Immunohistochemistry showed positive glycogenin expression, while LAMP1 and LC3 were negative, suggesting early glycogenin detection. Western blot revealed increased glycogenin and STBD1, with mild LAMP1 and LC3 upregulation. In 1-month-old Gaa ^-/- mice, glycogenin, LAMP1, STBD1, and LC3 were all upregulated. Furthermore, immunofluorescence further showed glycogenin/LAMP1 double-positive muscle fibers in both the patient and mice.</p><p><strong>Discussion: </strong>Our study shows that key pathological changes in Pompe disease occur during the asymptomatic stage, with early lysosomal accumulation of residual glycogen. This suggests residual glycogen may serve as a biomarker of early disease activity and a potential target for early intervention, informing disease monitoring and the timing of enzyme replacement therapy (ERT). Further studies are needed to validate its clinical utility and explore strategies for early clearance.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1172-1181"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147593180","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}

{"title":"Oral Health in Amyotrophic Lateral Sclerosis: Feasibility of Oral Screening and Determinants of Poor Outcomes.","authors":"Lauren Tabor Gray, Raquel Garcia, Cassandra Gubala, Eden Pressley, Radleigh Santos, Eduardo R Locatelli, Michelle Madera","doi":"10.1002/mus.70213","DOIUrl":"10.1002/mus.70213","url":null,"abstract":"<p><strong>Introduction: </strong>Oral hygiene represents a modifiable risk factor for systemic health and pulmonary complications yet is not routinely addressed in ALS care. This study aimed to examine the relationships between oral health, disease severity and determinants of health in people living with amyotrophic lateral sclerosis (pALS), and to identify key predictors of oral hygiene outcomes.</p><p><strong>Methods: </strong>Individuals with ALS completed an oral hygiene and bulbar screening during their multidisciplinary appointment. Disease demographics, determinants of health, oral health outcomes and bulbar disease outcomes were collected. Descriptives and one sample t-tests were performed to compare oral hygiene outcomes with healthy reference values. Multiple regression analyses were conducted to assess the relationship between disease demographics and oral health.</p><p><strong>Results: </strong>Sixty-two pALS aged 64.0 (+/- 10.8), 40% female, 31% Hispanic/Latino and 37% bulbar onset disease were enrolled. Compared to healthy reference values, plaque index (M = 1.45, SD = 0.52, p < 0.0001), gingival index (M = 1.25, SD = 0.46, p < 0.0001) and bleeding on probing (M = 35.26%, SD = 26.1, p < 0.0001) were elevated in pALS. Lack of dental insurance was a significant predictor of bleeding on probing (BOP) (p = 0.001), plaque (p = 0.006) and gingival scores (p = 0.001). ALSFRS-R (p < 0.03) was also predictive of greater plaque, and care partner status (p < 0.04), and age (p < 0.02) were predictors BOP. Ethnicity and dysphagia severity were not significant predictors.</p><p><strong>Discussion: </strong>Oral health screenings conducted during routine multidisciplinary visits identified periodontal disease in pALS, representing a feasible and immediately actionable pathway to improve oral care outcomes in pALS.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1038-1043"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13138351/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147434117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Peripheral Immune Profile Alterations in Treatment-Naïve Immune-Mediated Necrotizing Myopathy.","authors":"Kaikai Huo, Huizhen Ge, Huajie Gao, Xue Ma","doi":"10.1002/mus.70238","DOIUrl":"10.1002/mus.70238","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Immune-mediated necrotizing myopathy (IMNM) is a severe autoimmune myopathy causing proximal muscle weakness. Its underlying immunopathogenesis remains incompletely understood, limiting the development of targeted therapies. To elucidate disease mechanisms and inform therapeutic strategies, this study characterized the peripheral immune profile of treatment-naïve IMNM patients.</p><p><strong>Methods: </strong>This retrospective study analyzed serum cytokine levels, complement proteins (C3, C4), immunoglobulins (IgA, IgG, and IgM), and peripheral blood lymphocyte subsets in 28 treatment-naïve IMNM patients during the active disease phase and 25 healthy controls at Tongji Hospital from August 2023 to March 2025.</p><p><strong>Results: </strong>Compared with healthy controls, IMNM patients showed significantly elevated serum concentrations of interleukin-6 and interferon-γ (both p < 0.001). IgG and IgM levels were also markedly higher in the IMNM group (p = 0.003; p = 0.002). The number and percentage of B cells were significantly increased in IMNM patients (both p = 0.004). The number and percentage of CD8⁺ T cells were similarly elevated (p = 0.009; p = 0.004). In contrast, the proportion of CD4⁺ T cells was significantly reduced (p = 0.002), and the absolute count of natural killer cells was also significantly reduced (p = 0.004).</p><p><strong>Discussion: </strong>IMNM exhibits a distinct peripheral immune landscape, characterized by enhanced humoral immunity potentially driven by CD8⁺ T cell-mediated mechanisms, accompanied by reduced circulating natural killer cells. These findings suggest potential biomarkers for disease activity and may inform targeted immunotherapies. Further studies are needed to validate these immune alterations and clarify their role in IMNM pathogenesis.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1103-1108"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147616353","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}

{"title":"Predicting Disease Progression and Survival in Amyotrophic Lateral Sclerosis.","authors":"Muhannad Seyam, Kathryn H Morelli, Waqar Waheed, Leonard H van den Berg, Rup Tandan","doi":"10.1002/mus.70198","DOIUrl":"10.1002/mus.70198","url":null,"abstract":"<p><p>Amyotrophic lateral sclerosis (ALS) progresses relentlessly and is characterized by a median survival of 2-5 years from symptom onset with death from respiratory failure. ALS is a complex, multi-system neurodegenerative disorder with significant phenotypic heterogeneity and markedly variable disease progression. This variability presents challenges in determining the optimal timing for therapeutic interventions, complicates clinical trial design due to lack of effective stratification methods, and makes it difficult to reliably measure the longitudinal impact of specific interventions. Accurately capturing disease progression in ALS can be challenging. We propose that early respiratory phenotyping offers a promising approach to facilitate patient stratification, improve assessments of disease progression, and predict survival.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"961-965"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147499701","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}

{"title":"Development and Validation of a Deep Learning-Based Facial Weakness Score for Objective Assessment in Facioscapulohumeral Muscular Dystrophy.","authors":"T G J Loonen, T C Ten Harkel, S C C Vincenten, C G C Horlings, C H G Beurskens, S Knuijt, G W A M Padberg, B G M van Engelen, T J J Maal, K Mul","doi":"10.1002/mus.70228","DOIUrl":"10.1002/mus.70228","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Facioscapulohumeral muscular dystrophy (FSHD) is a muscle disease that leads, among other manifestations, to facial weakness. This weakness can severely impact communication and quality of life, yet it remains under-researched with limited objective clinical measures. Current manual scoring methods are subjective and exhibit suboptimal inter-observer agreement. This study aimed to develop and validate a deep learning-based facial weakness score (DLFWS) as an objective clinical outcome measure for facial weakness in FSHD.</p><p><strong>Methods: </strong>One hundred and twenty-two genetically confirmed FSHD patients and 56 controls were recruited. Sixty-four patients had a 5-year follow-up visit. Video recordings of participants performing seven facial exercises, each repeated three times, were analyzed using a convolutional neural network. The deep learning-based facial weakness score (DLFWS) was trained by comparing start and end frames from these exercises with the manual facial weakness scores (MFWS) assigned by three experienced observers. Pearson correlation coefficients and intraclass correlation coefficients (ICC) were used to evaluate the DLFWS's performance and reliability.</p><p><strong>Results: </strong>The DLFWS showed a strong correlation with the MFWS across exercises, with a mean Pearson correlation of 0.79 and a maximum of 0.85 for individual exercises. The DLFWS demonstrated excellent test-retest reliability, with an ICC of 0.90. Over a 5-year follow-up period, no significant progression of facial weakness was detected.</p><p><strong>Discussion: </strong>The DLFWS provides a reliable and objective assessment of facial weakness in FSHD patients. This automated tool holds potential for widespread clinical and research applications, enabling standardized assessment of facial weakness in FSHD.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1096-1102"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13138359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147593187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}