Muscle & Nerve最新文献

{"title":"Sarcolemmal Excitability Properties of the Trapezius.","authors":"Mitchell J Lycett, James Lee, Robert Boland-Freitas, Karl Ng","doi":"10.1002/mus.28361","DOIUrl":"10.1002/mus.28361","url":null,"abstract":"<p><strong>Introduction/aims: </strong>The sarcolemma can be probed in vivo using muscle excitability recordings. These techniques have been applied to the tibialis anterior and brachioradialis muscles in healthy and diseased states. We aimed to study and validate the trapezius as a more proximal muscle to be used for myopathic conditions.</p><p><strong>Methods: </strong>Muscle velocity recovery cycles (MVRCs) and frequency ramp recordings were performed on the trapezius of 29 healthy controls. These recordings were compared to tibialis anterior recordings from 74 healthy controls.</p><p><strong>Results: </strong>Overall, the recorded MVRC and frequency ramp recordings were similar between the trapezius and tibialis anterior. The mean relative refractory period (MRRP) was shorter in the trapezius (3.29 vs. 3.71 ms), but this is explained by differences in muscle temperature.</p><p><strong>Discussion: </strong>The trapezius demonstrates similar MVRC and frequency ramp parameters to the more commonly studied tibialis anterior. The trapezius is technically easy to study using muscle excitability techniques and therefore presents itself as a promising muscle to study sarcolemmal properties in conditions that preferentially affect the proximal musculature.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"600-605"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066581","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 Accuracy of Median Nerve Cross-Sectional Area in Suspected Amyotrophic Lateral Sclerosis.","authors":"Diederik J L Stikvoort García, Leonard H van den Berg, Boudewijn T H M Sleutjes, H Stephan Goedee","doi":"10.1002/mus.28326","DOIUrl":"10.1002/mus.28326","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Reduced nerve sizes obtained by nerve ultrasound (NUS) have been proposed as a potential diagnostic marker for amyotrophic lateral sclerosis (ALS). However, prospective studies evaluating patients with suspected ALS are currently lacking. We, therefore, evaluated the diagnostic accuracy of a standardized NUS protocol in a large sample of suspected ALS patients.</p><p><strong>Methods: </strong>We prospectively recruited 193 patients with suspected ALS, all of whom underwent the relevant ancillary tests. They also underwent a standardized NUS protocol, evaluating median nerve cross-sectional area (CSA) at upper arm, forearm and wrist. Additionally, we selected, retrospectively, a random sample of incident patients with multifocal motor neuropathy (MMN, n = 42). We determined diagnostic accuracy using receiver operating characteristic (ROC) analysis.</p><p><strong>Results: </strong>Ultimately, 143/193 patients received a final diagnosis of ALS, at a median disease duration of 10 months. Fifty patients were classified as non-ALS. Diagnostic yield of NUS to distinguish between patients with and without ALS was low (highest area under the curve (AUC) at the wrist: 0.57). In contrast, abnormal nerve sizes accurately discriminated MMN from patients with ALS, with AUCs ranging from 0.65 at the wrist to 0.86 at the upper arm.</p><p><strong>Discussion: </strong>Our study shows that reductions in nerve size are unlikely to have diagnostic utility during routine evaluation of suspected patients with ALS. However, when the differential diagnosis includes both ALS and MMN, median nerve size demonstrates high diagnostic accuracy.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"680-684"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887521/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008677","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":"Induced Pseudomembrane Enrichment in Long Nerve Allograft Reconstruction.","authors":"Omar A Protzuk, Mariam A Samuel, Kriston R Seward, Christopher A Keshishian, Geetanjali S Bendale, Jonathan E Isaacs","doi":"10.1002/mus.28362","DOIUrl":"10.1002/mus.28362","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Long nerve defects are typically reconstructed with autograft or processed acellular nerve allograft (PNA). PNA is convenient and avoids donor morbidity but lacks the neurotrophic environment of autograft. Increased levels of neurotrophic factors have been identified in pseudomembranes induced around silicone implanted between nerve ends. This study aimed to determine if pseudomembrane can be reliably induced around silicone implanted between nerve ends, and if this enhances regeneration of PNA inset within using a staged technique.</p><p><strong>Methods: </strong>Lewis rats (n = 24) underwent resection of a 15-mm sciatic nerve. The defect was filled with a silicone tube (n = 12) (MA) or the nerve ends were secured to a muscle bed (n = 12) (NMA). After 4 weeks, the silicone was replaced with PNA threaded within the pseudomembrane tunnel. In both groups, PNA was used to reconstruct the nerve defect. Weekly neuromotor assessment was performed with sciatic function index (SFI). At 16 weeks, muscle recovery was assessed, and nerve samples were obtained for histomorphometry.</p><p><strong>Results: </strong>The MA group's average normalized muscle weight was 46.25% versus the NMA group's 33.19% (p < 0.05). The MA group's average normalized muscle girth was 78.25% versus the NMA group's 60.73% (p < 0.05). Axon counts, g-ratio, and muscle force were not statistically different. At Week 15, the MA group had a significantly higher average SFI: -82.25 versus the NMA group -95.03 (p < 0.05).</p><p><strong>Discussion: </strong>PNA inset within induced pseudomembrane sheath enhanced muscle reinnervation. A staged membrane enhancement technique may be effective for improving PNA efficacy in peripheral nerve injury reconstruction.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":"71 4","pages":"662-669"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573320","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":"Augmented Intelligence-Based Interference Pattern Analysis (AI-IPA) in Concentric Needle Electromyography.","authors":"Sanjeev D Nandedkar, Paul E Barkhaus","doi":"10.1002/mus.28365","DOIUrl":"10.1002/mus.28365","url":null,"abstract":"<p><strong>Introduction/aims: </strong>To add objectivity to the routine needle electromyography examination, we describe an \"Augmented Intelligence\" based interference pattern (IP) analysis method that mimics the subjective assessment by quantifying IP fullness, discreteness, amplitude, pitch, and motor unit firing rate (FR).</p><p><strong>Methods: </strong>IP recordings from 20 control subjects and other patients with neuropathy and myopathy were analyzed. The IP was divided into three groups: low, intermediate, and full to mimic visual appearance. Reference values (RVs) were defined for each group. \"Fence\" pattern was defined based on the discreteness and amplitude. Upper limit of FR was defined. Various technical artifacts were detected and excluded from analysis.</p><p><strong>Results: </strong>In control subjects, a total of 2435 recordings from 119 commonly tested muscles were analyzed. The single set of RVs was satisfactory across the tested muscles. Amplitude increased when the pattern changed from low to full. Pitch did not correlate with fullness and its RVs were same for all groups. In patients with neuropathy, an intermediate or low pattern, high amplitude, fence pattern, low pitch, and high FR were demonstrated. In patients with myopathy, a full pattern with low amplitude and high pitch was demonstrated.</p><p><strong>Discussion: </strong>The algorithm makes simple measurements that are readily interpreted by the electromyographer. In this respect, it augments analysis by providing quantitative data. If implemented in an \"on-line\" manner, it can provide guidance to the operator without adding to the procedure time or changing the recording technique. The measurements can also be included in the report to support the study's findings.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"620-631"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143409255","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":"Prophylactic Use of Cardiac Medications and Survival in Duchenne Muscular Dystrophy.","authors":"Kristin M Conway, Shiny Thomas, Tahereh Neyaz, Emma Ciafaloni, Joshua R Mann, Michelle Staron-Ehlinger, Gary S Beasley, Paul A Romitti, Katherine D Mathews","doi":"10.1002/mus.28353","DOIUrl":"10.1002/mus.28353","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Prophylactic treatment of left ventricular dysfunction (LVD) in Duchenne muscular dystrophy (DMD) delays onset of LVD, but there is limited data showing impact on survival. Our aim was to describe survival among treated and untreated individuals with DMD.</p><p><strong>Methods: </strong>Retrospective, population-based surveillance data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) were used. We analyzed 327 males with DMD born between 1982 and 2009 who were at least 6 years old at the last visit and who initiated cardiac prophylactic medication before age 14 years. Death status was ascertained through vital record linkages and medical record review. Prophylaxis was defined as cardiac medication use at least 1 year before LVD onset (ejection fraction < 55% or shortening fraction < 28%). Age at first visit, corticosteroid use, scoliosis surgery, initiation of noninvasive ventilation, and loss of ambulation were also coded. Cox Proportional Hazard modeling with time-varying covariates describes associations.</p><p><strong>Results: </strong>Prophylactic cardiac treatment was documented for 27.7% (n = 90); corticosteroids were used by 60.9% (n = 157). Adjusting for age at first visit and MD STARnet site, prophylactic treatment was associated with a 54% lower hazard of death (HR = 0.46, 95% CI = 0.22-0.93) compared to no prophylaxis. Adjusting for selected clinical covariates did not appreciably change the estimate (HR = 0.46, 95% CI = 0.22-0.99).</p><p><strong>Discussion: </strong>Initiation of cardiac medication when left ventricular function is normal was associated with prolonged survival in this study of males with DMD. Only one-quarter of individuals received this treatment, however, indicating a topic of focus for improving care.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"574-582"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033740","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":"Ultrasound Evaluation of Upper Limb Sublesional Muscle Morphology in Cervical Spinal Cord Injury.","authors":"Hannah J Ro, Emmanuel Ogalo, Mathew I B Debenham, Harvey Wu, Amy K Hanlan, Russell O'Connor, Sean G Bristol, Christopher J Doherty, Erin E Brown, Michael J Berger","doi":"10.1002/mus.28358","DOIUrl":"10.1002/mus.28358","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Upper limb paralysis is arguably the most limiting consequence of cervical spinal cord injury (cSCI). There is limited knowledge regarding the early structural changes of muscles implicated in grasp/pinch function and upper extremity nerve transfer surgeries. We evaluated: (1) muscle size and echo intensity (EI) in subacute cSCI (2-6 months) and (2) the influence of lower motor neuron (LMN) damage on these ultrasound parameters.</p><p><strong>Methods: </strong>Cross-sectional B-mode images were captured bilaterally in individuals with cSCI (injury duration: 3.3 ± 1.2 months; C4-C6 injury levels; American Spinal Injuries Association Impairment Scale A-C; 45.7 ± 13.7 years; 3 females, 14 males) for biceps brachii (BB), extensor carpi ulnaris, extensor indicis proprius, flexor pollicis longus (FPL), and first dorsal interosseous. Each limb was analyzed as an independent event (n = 34). Cross-sectional area (CSA), thickness (MT), and EI were compared to healthy controls (HC). BB and FPL concentric needle electromyography (EMG) data were also obtained. Abnormal LMN health was defined by the presence of pathological spontaneous activity.</p><p><strong>Results: </strong>Relative to HC, forearm and hand muscle size were 15%-41% lower (p < 0.05), while EI was 21%-40% higher (p < 0.05); no significant differences were observed for sublesional BB muscles (n = 16) (p > 0.05). Muscles demonstrating abnormal LMN health displayed reduced BB MT and elevated FPL EI (p < 0.05).</p><p><strong>Discussion: </strong>These results underscore the substantial changes in forearm and hand muscle morphology within the subacute period after cSCI, with preliminary evidence suggesting that these changes are influenced by LMN damage.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"564-573"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887526/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033743","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":"Multifocal Motor Neuropathy: A Narrative Review.","authors":"Benjamin Claytor, David Polston, Yuebing Li","doi":"10.1002/mus.28349","DOIUrl":"10.1002/mus.28349","url":null,"abstract":"<p><p>Multifocal motor neuropathy (MMN) is an acquired autoimmune polyneuropathy that affects almost exclusively the motor nerve fibers. Typically seen in middle-aged adults, its predominant clinical feature is a chronically progressive asymmetric weakness that affects the distal upper extremities most significantly. Minor sensory symptoms, sensory examination findings or abnormal sensory nerve conduction studies can be seen in the lower extremities in a minority of patients. Electrodiagnostic studies reveal motor conduction blocks at noncompressible sites, and minor findings of other demyelinating features such as conduction slowing or temporal dispersion. Anti-GM1 antibody titers are elevated in less than half of MMN patients, and more recent studies suggest mechanisms including antibody-induced complement attack at the node of Ranvier with resulting ion channel dysfunction. Peripheral nerve magnetic resonance imaging and neuromuscular ultrasound often reveal non-uniform enlargement of the nerve roots, plexuses, or peripheral nerve segments, thus being useful in assisting diagnosis. The differential diagnosis of MMN mainly includes motor neuron disease or demyelinating sensorimotor polyneuropathies. Immunoglobulin therapy is the first-line and mainstay of treatment, being effective in maintaining or restoring muscle strength in the majority of patients. However, motor strength often slowly declines over the long term, even with maintenance immunoglobulin treatment. More effective immunotherapy is needed to halt the slow progression of MMN, and complement inhibition appears to be a promising option in the near future.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"512-534"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887531/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399549","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":"Clinicopathological Features of Mixed Connective Tissue Disease-Related Myositis: A Case Series.","authors":"Naohiro Sakamoto, Rumiko Izumi, Naoki Suzuki, Maki Tateyama, Masashi Aoki","doi":"10.1002/mus.28360","DOIUrl":"10.1002/mus.28360","url":null,"abstract":"<p><strong>Introduction: </strong>Mixed connective tissue disease (MCTD) patients often have myositis, however, myopathological and clinical data for MCTD are limited. Recent reports have shown that the pathology of MCTD myositis resembles that of immune-mediated necrotizing myopathy (IMNM), whereas earlier reports described perifascicular atrophy or inflammatory infiltrates predominantly in the perivascular region in MCTD myositis. We aim to describe the clinical and myopathological features of MCTD myositis.</p><p><strong>Methods: </strong>We analyzed the clinical and myopathological findings of nine myositis patients with U1-RNP antibodies who fulfilled the diagnostic criteria for MCTD.</p><p><strong>Results: </strong>Eight patients had muscle weakness in the proximal extremities, and overall, six patients had atypical weakness in the face, neck, wrist, or fingers. Four of those patients required additional intensive treatment (intravenous immunoglobulin or methylprednisolone). Therapeutic responses were consistently favorable overall, and there were no deaths during the observation period. In biopsied muscle specimens, common findings were mild myogenic change, increased necrotic and regenerating fibers, and inflammatory infiltrates predominating in the perivascular region. Two specimens were classified into the spectrum of dermatomyositis (DM); the remaining seven specimens, which had a smaller number of necrotic fibers and nonspecific infiltration, were unclassifiable.</p><p><strong>Discussion: </strong>Patients with MCTD myositis often exhibit an axial or atypical distribution of muscle weakness, which may require intensive therapy. Histological study demonstrates the heterogeneity of myopathology of MCTD myositis and suggests that DM and underlying vasculopathy might be present in these patients.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"583-592"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887522/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143059769","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":"Treatment With Full-Spectrum Cannabidiol Oil Improved the Pathological Findings of Dystrophic Mutant Mice.","authors":"Laís Leite Ferreira, Fabricio Souza Gomes, Beatriz Godinho Nascimento, Wagner Corsini, Luis Felipe Cunha Dos Reis, João Marcos Oliveira-Silva, Josie Resende Torres da Silva, Marcelo Lourenço da Silva, Angel Maurício Castro Gamero, Túlio de Almeida Hermes","doi":"10.1002/mus.28337","DOIUrl":"10.1002/mus.28337","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the DMD gene, making muscle fibers susceptible to contraction-induced membrane damage. Given the potential beneficial action of cannabidiol (CBD), we evaluated the in vitro effect of full-spectrum CBD oil on the viability of dystrophic muscle fibers and the in vivo effect on myopathy of the mdx mouse, a DMD model.</p><p><strong>Methods: </strong>In vitro, dystrophic cells from the mdx mouse were treated with full-spectrum CBD oil and assessed with cell viability and cytotoxic analyses. In vivo, fourteen-day-old mdx mice received 10 mg/kg/day of the full-spectrum CBD oil for 14 days. We analyzed creatine kinase (CK) levels, liver damage markers, and histopathology of the diaphragm (DIA) and quadriceps (QUA [myonecrotic fibers with positive IgG staining, regenerated fibers/central nuclei, the minimum Feret's diameter, the fibrosis area, the inflammatory area, the presence of macrophages, and NF-kappa B content]).</p><p><strong>Results: </strong>In vitro treatment with full-spectrum CBD oil showed a dose-dependent cytotoxic effect; however, in vivo 10 mg/kg treatment was safe and effectively improved DMD histopathological assessment parameters in DIA and QUA: reduction of central nuclei: 1.7% ± 2.0% versus 22.4% ± 5.3% and 11.1% ± 10.7% versus 32.3% ± 4.6%; reduction of IgG+ myofibers: 0.6% ± 0.7% versus 8.4% ± 1.6% and 0.9% ± 0.3% versus 7.5% ± 1.0%; increase in myofiber size: 85.2 ± 3.2 versus 64.3 ± 4.0 μm and 106.5 ± 8.6 versus 81.2 ± 4.8 μm; decrease in inflammatory area: 6.2% ± 2.7% versus 15.1% ± 2.6% and 5.3 ± 4.1 versus 17.3% ± 2.8%; reduced macrophage area: 0.05% ± 0.1% versus 10.8% ± 4.3% and 1.0% ± 0.7% versus 10.3% ± 4.9%; NF-κB levels: 0.6% ± 0.1% versus 1.7% ± 0.2% and 1.7% ± 0.1% versus 5.2% ± 2.1%; and fibrosis: 5.6% ± 1.8% versus 12.0% ± 3.7% and 1.3% ± 0.5% versus 4.7% ± 1.5%. It also reduced serum CK.</p><p><strong>Discussion: </strong>Full-spectrum CBD oil may represent a promising new approach to treating DMD, but its potential toxicity must be considered.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"651-661"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143007658","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":"Comparison of Two Questionnaires for Sleep-Related Symptoms in Pediatric and Adult Patients With Myotonic Dystrophy Type 1.","authors":"Eleonora Silvana D'Ambrosio, Megan Rose, Shannon Chagat, Grace R Paul, Megan A Waldrop","doi":"10.1002/mus.28371","DOIUrl":"10.1002/mus.28371","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Sleep-related symptoms in myotonic dystrophy type 1 (DM1) are often unrecognized. This study aimed to integrate two sleep questionnaires into an outpatient clinic for assessing sleep disturbances in DM1 patients, while also developing a pediatric version of one questionnaire.</p><p><strong>Methods: </strong>We administered two sleep questionnaires to adult and pediatric patients with DM1: (1) the Epworth Sleepiness Scale (ESS), which assesses the likelihood of falling asleep under specific circumstances; and (2) the Functional Outcomes of Sleep Questionnaire-10 (FOSQ-10), which evaluates the impact of daytime sleepiness on activities of daily living. We also developed a pediatric version of the adult FOSQ-10 and compared it to the pediatric ESS.</p><p><strong>Results: </strong>Among 28 DM1 patients, 27 completed the questionnaires. More than half (15 of 26, eight children and seven adults) had abnormal scores on either or both questionnaires. FOSQ-10 scores tended to be more abnormal than ESS scores in pediatric patients. No significant correlations were found between questionnaire scores and CTG repeats, intellectual disability, age, or inheritance pattern. The pediatric FOSQ-10 questionnaire showed a strong correlation with the pediatric ESS correlation coefficient -0.79 (p = 0.002).</p><p><strong>Discussion: </strong>The integration of the ESS and the FOSQ-10 allowed for a more comprehensive assessment of fatigue, a well-documented symptom in DM1 and one that the ESS alone might not fully capture. Our findings highlight the importance of incorporating multiple tools to assess sleep-related symptoms in DM1 patients.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"606-610"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374454","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}