Neuromuscular Disorders最新文献

{"title":"116P Exploring neurobehavioral disorders in type 1 and presymptomatic patients with spinal muscular atrophy","authors":"B. Buchignani ,&nbsp;G. Coratti ,&nbsp;C. Cutrì ,&nbsp;C. Palermo ,&nbsp;D. Leone ,&nbsp;L. Antonaci ,&nbsp;M. Pera ,&nbsp;M. Pane ,&nbsp;E. Mercuri","doi":"10.1016/j.nmd.2024.07.023","DOIUrl":"10.1016/j.nmd.2024.07.023","url":null,"abstract":"<div><div>The advent of disease modifying therapies in Spinal Muscular Atrophy (SMA) has changed the natural history of the disease, increasing life expectancy and quality of life but, at the same time, raising new clinical challenges. The aim of this study is to explore the neurobehavioral profile in treated individuals with SMA type I and subjects identified by newborn screening (NBS). Twenty-eight individuals aged 2-10 years underwent a comprehensive behavioral assessment using three screening questionnaires (Strengths and Difficulties Questionnaire (SDQ), Social Communication Questionnaire (SCQ), and Sensory Profile (SP)), which provide information regarding the risk of behavioral disorders and autism. A cognitive evaluation, and a clinical observation were performed by two independent observers. Twenty-two individuals with SMA type I and 6 patients identified with NBS were included. None had abnormal clinical scores in the SCQ questionnaire, 4 had borderline scores, but in two of the 4 the scores were normal when the motor items were removed. SDQ showed some abnormal results in 10/28 subjects. The clinical observation confirmed the result of the screening questionnaires in 17/28 subjects and highlighted behavioral issues in 4/28 not detected by the questionnaires. Our findings confirm that neurobehavioral disorders may occur in subjects with SMA and highlight the challenges in choosing the appropriate assessment tools. Questionnaires such as SCQ do not appear to be adequate as they often failed to identify signs detected by other tools. SDQ appeared to be the most appropriate tool in our cohort. In our experience, a structured clinical observation was also helpful to identify behavioral problems, suggesting that, in the absence of disease specific tools, the use of different instruments may help to better identify the type and the frequency of behavioral problems.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.14"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"119P Evaluation of physical function before and after medical treatment in patients with Spinal Muscular Atrophy aged 11-25 years","authors":"U. Werlauff ,&nbsp;L. Busk ,&nbsp;P. Drivsholm ,&nbsp;B. Heiden ,&nbsp;R. Iversen ,&nbsp;H. Laustsen ,&nbsp;A. Mahoney ,&nbsp;L. Olesen ,&nbsp;C. Handberg","doi":"10.1016/j.nmd.2024.07.026","DOIUrl":"10.1016/j.nmd.2024.07.026","url":null,"abstract":"<div><div>Medical treatment for 5q spinal muscular atrophy (SMA) is now standard treatment in many countries, and a growing number of studies report on improvement or stabilization in physical function as a result of medical treatment. Different countries have different practices regarding the target group for medical treatment. Age and level of function have been decisive criteria for receiving the treatment. Until July 2023, the Danish medical council had approved initiation of medical treatment for children up to 10 years of age, and during the spring of 2023 it were to be determined whether the patient target group could be expanded. Based on this potential expansion, the aim of the study was to evaluate the current physical functioning in a national cohort of patients &gt; 10 years and – in case treatment was approved – to repeat the evaluation six month after initiation of treatment. Due to the size of the target group (n=136) and the narrow time frame it was decided to narrow the target group to non-ambulant patients and perform the evaluation online. The evaluation included two items from the revised upper limb scale (RULM) (lift hands, pick up and hold coins), the EK2-scale (17 items), Fatigue Severity Scale (7 items), a brief questionnaire on patient expectations before treatment and an online interview about experiences after initiation of treatment. 57 patients accepted the invitation, answered the questionnaire, and were examined online during the spring of 2023. In July 2023, the Danish medical council decided to expand the target group to patients up to 25 years of age. 11/57 patients met the new criteria and accepted treatment. Follow-up examinations of these patients are ongoing. Results will be reported on the poster.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.17"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"229P Home mechanical ventilation in paediatric neuromuscular disorders in a resource limited setting","authors":"R. Ramesh Babu ,&nbsp;I. Kinimi ,&nbsp;S. Shinde ,&nbsp;N. Mohan Rao ,&nbsp;A. Sahoo ,&nbsp;M. Maganthi ,&nbsp;A. Agnes Mathew","doi":"10.1016/j.nmd.2024.07.080","DOIUrl":"10.1016/j.nmd.2024.07.080","url":null,"abstract":"&lt;div&gt;&lt;div&gt;Neuromuscular disorders (NMD) have seen a revolution in the availability of novel disease-modifying therapies (DMT) in the last few years. Yet affected individuals often gain suboptimal improvement despite these, due to the paucity of robust allied supportive specialities such as sleep medicine. Sleep Disordered Breathing (SDB) is fairly common in NMD and is the leading cause of death in them. Hence, non-invasive ventilation (NIV) is a crucial part of SDB management. This is often challenging where resources are limited. Here we describe the approach of our referral neuromuscular centre in establishing home mechanical ventilation (HMV) and respiratory care including cough assist. Clinical details of children with neuromuscular diseases attending our centre between January 2018 and August 2022 with SDB were collected by retrospective data review. Level 1 polysomnography (PSG) results of those who underwent the test were retrieved and analysed. 296 children (male: 67.2%, female: 22.8%) with NMD were thus included. The majority of our cohort had spinal muscular atrophy (SMA,165/296), followed by Duchenne muscular dystrophy (DMD, 67/296) and the remaining had other NMD (64/296). 164/296 (55.4%) subjects underwent a PSG. The median Apnoea Hypopnea Index (AHI) was 8.0 (0.3 - 78) per hour of total sleep time. Interestingly, 59.14% of our cohort had moderate to severe OSA. PSG could not be carried out for all individuals with clinical symptoms of SDB due to economic constraints, lack of resources and availability in carrying out PSG in children at a tertiary care unit with its attendant waiting times. Hence we initiated HMV in all subjects with NMD either when they had clinically overt symptoms of SDB or when the PSG supported it or both. HMV was initiated in 243/296 (82.1%) of the subjects included in our cohort. 14 of these individuals underwent a tracheostomy, 32 used cough assist, 22 were on nasogastric tube feeds and 20 underwent gastrostomy with fundoplication. In the subset with SMA: 69/165 (41.87%) children had received one of the DMTs like gene therapy (32/69) or Risdiplam (17/69) or Spinraza (20/69). Initiation of HMV reduced hospital admissions and improved quality of life. 15 children succumbed due to respiratory failure. The use of HMV and cough assist is well established in resource-equipped settings, but is extremely challenging in resource-limited ones, where affected individuals often receive DMT, due to various charitable initiatives without the benefit of adequate respiratory support. But even with these challenges such as long waiting times for PSG, the financial and logistical challenges including those for BiPAP (Bilevel Positive Airway pressure) as well as the cough assistive devices, it is still possible to ensure that subjects have access to them to gain meaningful outcomes from DMTs. In the long run, early initiation reduces the economic burden, both in terms of morbidity and mortality. A low threshold for initiation o","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.71"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"03INV Idiopathic inflammatory myopathies: current state of the field, new insights and treatment","authors":"J. Vencovský,&nbsp;H. Mann","doi":"10.1016/j.nmd.2024.07.014","DOIUrl":"10.1016/j.nmd.2024.07.014","url":null,"abstract":"<div><div>The idiopathic inflammatory myopathies are a heterogeneous group of acquired diseases comprising dermatomyositis (DM), antisynthetase syndrome, immune-mediated necrotizing myopathy, inclusion body myositis (IBM) and myositis occurring in overlap syndromes with other autoimmune systemic diseases. Drug-induced myositis is increasingly seen in association with treatment with statins or checkpoint inhibitors. International collaboration projects in the last decade resulted in better understanding of the genetic predisposition and etiopathogenetic pathways leading to disease initiation and progression, in development of the new disease classification and treatment response criteria, and in a number of large-scale clinical trials with several biologic or targeted synthetic drugs. The new recommendations for cancer screening in myositis are an important clinical aid. In addition to more refined characterisation of the association with HLA molecules, the relationship of IIM to other non-HLA genes or to low gene copy number of complement has been demonstrated. Further evidence is emerging for an important role of autoantibodies, not only in relation to clinical manifestations and prognosis, but also in terms of a possible pathogenic effect in the disease. Attention is now also being paid to organ involvement in myositis, particularly the lungs, as new therapeutic options for interstitial lung disease became available. Several new clinical trials with biologics have generally failed to demonstrate sufficient efficacy in the treatment of IIM, although there are signals of a possible benefit in some subtypes of IIM. A landmark clinical trial with intravenous immunoglobulins has provided evidence of significant efficacy in patients with DM leading to a new regulatory approval in many years. A number of other clinical trials are currently underway in various subtypes of IIM, including notoriously resistant IBM, with drugs that have very intriguing mechanisms of action and some have already been shown to be effective in similar immune-mediated diseases. Results will be known in the coming months/years.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.5"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"221P Initial data from the achieve trial of DYNE-101 in adults with myotonic dystrophy type 1 (DM1)","authors":"D. Wolf ,&nbsp;J. Lilleker ,&nbsp;G. Bassez ,&nbsp;J. Diaz-Manera ,&nbsp;J. Kools ,&nbsp;M. Pane ,&nbsp;R. Roxburgh ,&nbsp;B. Schoser ,&nbsp;C. Turner ,&nbsp;C. Mix ,&nbsp;S. Ray ,&nbsp;B. Han ,&nbsp;W. Farwell ,&nbsp;V. Sansone","doi":"10.1016/j.nmd.2024.07.072","DOIUrl":"10.1016/j.nmd.2024.07.072","url":null,"abstract":"<div><div>DM1 is a spliceopathy caused by expansion of CUG repeats in the DMPK RNA that leads to multisystem clinical manifestations. DYNE-101, an investigational therapeutic for treatment of DM1, consists of a TfR1-binding Fab conjugated to an ASO designed against mutant nuclear DMPK RNA to correct splicing. The safety and efficacy of DYNE-101 in adults (18-49 years old) are being investigated in the Phase1/2 ACHIEVE trial (NCT05481879). For this analysis, 16 participants had efficacy data through 6 months (6M) of follow-up in the 1.8 mg/kg (approximate ASO) dose cohort and 16 participants had biopsy data through 3M of follow-up in the 3.4 mg/kg dose cohort of the MAD portion of ACHIEVE. Participants were randomized to receive DYNE-101 (n=6) or placebo (n=4) Q4W, or two doses of DYNE-101 followed by placebo for the remainder of the MAD period (n=6). Safety and tolerability are based on 45 participants enrolled in ACHIEVE as of the data cut-off date. At 3M, 1.8 and 3.4 mg/kg DYNE-101 showed mean 10.0 ng/g and 21.5 ng/g ASO concentration, mean 25% and 40% DMPK knockdown, and mean 13% and 19% splicing correction from baseline, respectively. At 6M, 1.8 mg/kg DYNE-101 showed mean 16% DMPK knockdown, +7% CASI change from baseline, 3.8-second improvement in myotonia, and improvement in MDHI, a patient-reported outcome. 3/5 evaluable participants had splicing correction at 3M, persisting through 6M. In the 3.4 mg/kg cohort, 5/5 evaluable participants had splicing correction at 3M. DYNE-101 had a favorable safety profile as of the data cut-off date, with mostly mild or moderate TEAEs and no clinically meaningful changes in kidney and liver parameters or treatment-emergent anemia. The initial data with DYNE-101 demonstrated dose-dependent ASO delivery, DMPK knockdown, and splicing correction with durable effect. Improvement in myotonia was also observed at the lowest dose tested. The data support the continued development of DYNE-101 for the treatment of DM1.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.63"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"223P Mental health support for children and young people with Duchenne muscular dystrophy – who, when and how across the UK","authors":"C. Geagan ,&nbsp;A. Sandhu ,&nbsp;L. Bouquillon ,&nbsp;R. Conn ,&nbsp;D. Bindman ,&nbsp;J. Pattni ,&nbsp;C. Turner ,&nbsp;R. McDonald ,&nbsp;J. Alex ,&nbsp;S. Rodney ,&nbsp;R. Quinlivan ,&nbsp;M. Guglieri ,&nbsp;V. Straub","doi":"10.1016/j.nmd.2024.07.074","DOIUrl":"10.1016/j.nmd.2024.07.074","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease caused by mutations in the gene that codes for dystrophin. Patients experience a gradual loss of muscle starting in childhood that usually leads to death in the late 20s. Whilst the physical impact is well documented, the psychological and neuropsychological impact of this condition on children and young people (CYP) with DMD and their families has been largely overlooked and is poorly understood. The objective of the survey was to acquire qualitative and quantitative information about approaches to and provision for mental health (MH) needs in CYP with DMD across the UK. To identify areas of good practice as well as gaps in service provision and variation and inequity in access to services which will inform approaches to service improvement. Professionals across the NorthStar network (consortium of all the UK neuromuscular paediatric centres) and parents/caregivers will be recruited using separate online surveys. Questions have been designed by the project team and cover a range of similar themes regarding psychosocial support allowing comparison across the groups. CYP with DMD and their parents/caregivers will be invited to separate focus groups or interviews to discuss their views on support for mental health in DMD. Results are in progress. We hypothesise that MH support for CYP and their carers will be identified as an essential component of care that should be offered in the neuromuscular clinic, as part of a broader interdisciplinary integrated approach. Understanding viewpoints from different stakeholders is essential in the early stages of this project to help guide future research ideas and clinical practice. Further engagement with CYP and parents/carers regionally and nationally is crucial to service development. This project will be part of the wider DMD Care UK project which aims to provide consensus and an evidence base for the highest standard of care for all aspects of DMD. This is leading to UK-wide care recommendations, referral pathways, prescription guidance and clinical practice guidelines. Our work will embed psychosocial care within multidisciplinary teams treating DMD throughout the UK.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.65"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"04INV Acquired muscle disorders - a paediatric perspective","authors":"S. Ramdas","doi":"10.1016/j.nmd.2024.07.015","DOIUrl":"10.1016/j.nmd.2024.07.015","url":null,"abstract":"<div><div>Acquired muscle disorders comprise of a heterogenous group of treatable infectious or inflammatory disorders. Outside the benign self-limiting viral myositis, the most common acquired muscle disorders are Immune mediated myopathies (IIMs) which include juvenile dermatomyositis, juvenile polymyositis and immune-mediated necrotising myopathy. IIMs are rare in paediatric cohorts with an annual incidence of 1.6- 4 cases/million children compared to adult incidence of 0.2-2/100,000 person years, leading to diagnostic delay including misdiagnosis as genetic or para-infectious muscle disorders and consequently morbidity and mortality due to treatment delay. The talk will cover the pathophysiology mechanisms, clinical presentations, current and emerging treatment strategies in management of paediatric acquired muscle disorders focusing particularly on the nuances of the issues which are pertinent to children and young people compared to adults.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.6"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"361P Development of a next-generation multiplex ddPCR assay for measurement of in-frame dystrophin mRNA in people with DMD treated with BMN 351","authors":"S. Tamura,&nbsp;I. Sidhu,&nbsp;J. Ilagan,&nbsp;A. Yu,&nbsp;A. Byer,&nbsp;S. Kamath,&nbsp;L. Staskus,&nbsp;C. Russell,&nbsp;A. Melton,&nbsp;K. Larimore","doi":"10.1016/j.nmd.2024.07.098","DOIUrl":"10.1016/j.nmd.2024.07.098","url":null,"abstract":"<div><div>BMN 351, a next-generation antisense oligonucleotide (ASO), is being developed for the treatment of people with Duchenne muscular dystrophy (DMD) who have mutations amenable to exon 51 skipping. Out-of-frame dystrophin mRNA transcripts are converted by exon 51 skipping to in-frame, near-full–length, functional dystrophin transcripts. In-frame dystrophin mRNA expression is an early pharmacodynamic marker of BMN 351 activity. Current standard methods measure mRNA skipping by calculating the percentage of in-frame (exon skipped) dystrophin transcripts over total dystrophin transcripts. However, the relationship between exon skip percentage and dystrophin protein expression is unclear, as measurement of exon skip percentage does not account for reduced total dystrophin mRNA in DMD muscle. Here, we propose a novel assay strategy that quantifies functional in-frame dystrophin mRNA as a percentage of normal in-frame dystrophin transcripts from control muscle. This enhances the value of dystrophin mRNA measurements and better aligns with and predicts protein expression. Using in silico data mining and experimental verification, we identified both ubiquitously expressed and muscle-specific normalizer transcripts that can be measured in a multiplex ddPCR method with in-frame and total dystrophin mRNA. Ubiquitously expressed normalizers enable reporting of in-frame dystrophin mRNA levels normalized to total cellular content, compensating for varying RNA quantity and quality between samples. Muscle-specific normalizers provide insight into in-frame dystrophin mRNA expression per muscle cell in biopsies that may contain inflammatory infiltrate and adipocyte cells that vary with disease state and across individual biopsies. In this next-generation multiplex approach we propose a strategy to provide a more comprehensive and clinically relevant evaluation of mRNA expression that may be more predictive of functional dystrophin protein levels following ASO treatment for DMD.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.89"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"362P Whole-body MRI reveals common and distinctive muscle involvement in “clinically asymptomatic” female carriers of pathogenic DMD variants","authors":"F. Giliberto ,&nbsp;A. Vigliano ,&nbsp;L. Luce ,&nbsp;J. Pastor Rueda ,&nbsp;H. Chaves ,&nbsp;L. Mesa ,&nbsp;M. Carcione ,&nbsp;C. Mazzanti ,&nbsp;C. Llames Massini ,&nbsp;P. Radic ,&nbsp;C. Cejas","doi":"10.1016/j.nmd.2024.07.099","DOIUrl":"10.1016/j.nmd.2024.07.099","url":null,"abstract":"<div><div>DMD-carriers were traditionally considered asymptomatic given the X-linked recessive inheritance pattern of these diseases. Yet, it has recently been discovered that they exhibit different levels of muscle involvement.</div><div>This study aimed to characterize and compare the muscle structure on MRI of DMD-carriers and a control group. Secondly, we pursue a correlation between levels of muscle involvement and clinical manifestations, creatine kinase (CK) levels, DMD molecular alteration and X-chromosome inactivation (XCI) patterns. We enrolled 30 genetically confirmed DMD female carriers and 30 healthy non-carrier controls, BMI and age matched. All individuals underwent whole-body MRI, where semi-quantitative scales were used to assess muscle edema, trophism and fatty infiltration. Neurological examination, Serum CK measurement, DMD genetic screening, and XCI studies were only performed on the DMD-carriers. Statistically significant differences in muscle involvement were observed between DMD-carriers and the control group. Female carriers exhibited muscle affection in 33% of the 48 muscle groups analyzed, while the control group presented only the 10% affected. Most of the DMD-carriers’ implicated muscles showed mild atrophy and mild to moderate fatty infiltration. The muscles more frequently affected were gastrocnemius, gluteus maximus and soleus. No statistical correlation was found between the levels or pattern of muscle involvement on MRI and the neurological examination, CK values, type of genetic variant and XCI patterns. DMD-carriers exhibit frequent and distinctive muscle involvement patterns on MRI, questioning the conception of “asymptomatic” DMD-Carriers. These results, together with findings in other X-linked disorders, lead to a revision of the concept of asymptomatic carriers of X-linked recessive diseases and raise awareness of the need to develop best practice guidelines for the evaluation and management of these females.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.90"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Welcome to the 29th World Muscle Society Congress in Prague, Czechia, 2024","authors":"","doi":"10.1016/j.nmd.2024.08.002","DOIUrl":"10.1016/j.nmd.2024.08.002","url":null,"abstract":"","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104445"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}