Neuromuscular Disorders最新文献

{"title":"Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review","authors":"R Muni-Lofra ,&nbsp;G Coratti ,&nbsp;T Duong ,&nbsp;J Medina-Cantillo ,&nbsp;M Civitello ,&nbsp;A Mayhew ,&nbsp;R Finkel ,&nbsp;E Mercuri ,&nbsp;C Marini-Bettolo ,&nbsp;F Muntoni","doi":"10.1016/j.nmd.2025.105341","DOIUrl":"10.1016/j.nmd.2025.105341","url":null,"abstract":"<div><div>Spinal Muscular Atrophy is a genetic disorder causing muscle atrophy and progressive weakness. People living with the condition can have a significant heterogenous phenotype ranging from arrest of motor development to mild impairment. Assessing disease severity has been done using a range of outcome measures that can be classified by body structure or function, by activities or by participation. Functional outocome measures can be generic measures, used to compare individuals or populations against general norms, or disease-specific measures designed to fit disease characteristics. Outcome measures assessing participation are primarily used to capture patients' perceptions of health-related quality of life, daily activity abilities, caregiver burden, and the impact of physical symptoms like fatigue or pain. When assessing disease progression, often the focus on functional abilities has served as an overall indicator of change. With the appearance of disease modifying therapies and the need to evaluate the impact that they had in the course of the disease, new requirements for the existing assessments measure had appeared. The current available toolkit is able to capture a significant spectrum of both, natural history and effect of new treatments but the increased survival, changes in fatigue, bulbar function and others will benefit from further assessment.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"49 ","pages":"Article 105341"},"PeriodicalIF":2.7,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143686566","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":"The widening genetic and myopathologic spectrum of congenital myopathies (CMYOs): a narrative review","authors":"Marion Onnée ,&nbsp;Edoardo Malfatti","doi":"10.1016/j.nmd.2025.105338","DOIUrl":"10.1016/j.nmd.2025.105338","url":null,"abstract":"<div><div>Congenital myopathies (CMYOs) represent a genetically and clinically heterogeneous group of disorders characterized by early-onset muscle weakness and distinct myopathologic features. The advent of next-generation sequencing (NGS) has accelerated the identification of causative genes, leading to the discovery of novel CMYOs and thereby challenging the traditional classification. In this comprehensive review, we focus on the clinical, myopathologic, molecular and pathophysiological features of 33 newly identified CMYOs.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"49 ","pages":"Article 105338"},"PeriodicalIF":2.7,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143644518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"UPDATE IN NEUROMUSCULAR DISORDERS","authors":"","doi":"10.1016/S0960-8966(25)00053-7","DOIUrl":"10.1016/S0960-8966(25)00053-7","url":null,"abstract":"","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"48 ","pages":"Article 105326"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143620251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vienna WMS 2025","authors":"","doi":"10.1016/S0960-8966(25)00054-9","DOIUrl":"10.1016/S0960-8966(25)00054-9","url":null,"abstract":"","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"48 ","pages":"Article 105327"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143620199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"WMS General Information","authors":"","doi":"10.1016/S0960-8966(25)00056-2","DOIUrl":"10.1016/S0960-8966(25)00056-2","url":null,"abstract":"","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"48 ","pages":"Article 105329"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143620250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ENMC Mid-Career Mentoring Programme applications","authors":"","doi":"10.1016/j.nmd.2025.105337","DOIUrl":"10.1016/j.nmd.2025.105337","url":null,"abstract":"","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"48 ","pages":"Article 105337"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143620321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fluoroscopic guidance for intrathecal delivery of nusinersen in pediatric patients with spinal muscular atrophy and complex spines","authors":"Shany Lando - Dotan ,&nbsp;Eliyahu Perlow ,&nbsp;Vered Shkalim Zemer ,&nbsp;Hagit Levine ,&nbsp;Elchanan Bruckheimer ,&nbsp;Yelena Tzeitlin ,&nbsp;Tamar Steinberg ,&nbsp;Yoram Nevo ,&nbsp;Tzipora Shochat ,&nbsp;Sharon Aharoni","doi":"10.1016/j.nmd.2025.105336","DOIUrl":"10.1016/j.nmd.2025.105336","url":null,"abstract":"<div><div>The introduction of nusinersen revolutionized the treatment of spinal muscular atrophy (SMA). However, nusinersen is administered by interlaminar intrathecal injection which is challenging in patients with severe scoliosis, a common comorbidity of advanced SMA. This study evaluated the technical benefits of fluoroscopic guidance of intrathecal nusinersen administration in complex SMA patients with or without a fixation device. The cohort included 12 patients aged 10–20 years (total 124 injections). The total success rate was 99 %, with failure to complete only one out of 124 procedures. Demographic characteristics were diverse. Mean age at first injection was 14.2 years. Mean duration of radiation exposure was 77 s; mean dose area product was 2.32 Gycm²; and mean cumulative air kerma was 20.91mGy. Adverse events included post-dural-puncture headache (4.8 % of procedures), mostly mild and self-limited, and one allergic reaction. Treatment was discontinued in 2 patients because of difficult intrathecal access, and in 2 for reasons unrelated to the injection technique. Fluoroscopy-guided nusinersen administration is a feasible option for patients with SMA and complex access. Success depends on proper patient positioning and expertise of the interventional radiologist. Radiation exposure is lower than with other techniques. Larger prospective studies are needed to confirm these findings.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"49 ","pages":"Article 105336"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143686567","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":"Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study","authors":"Arti M Mistry ,&nbsp;Georgia Saldanha ,&nbsp;Luuk R van den Bersselaar ,&nbsp;Greg A Knock ,&nbsp;Michael F Goldberg ,&nbsp;Maria I Vanegas ,&nbsp;Miguel A Fernandez-Garcia ,&nbsp;Susan Treves ,&nbsp;Nicol C Voermans ,&nbsp;Rachel M Tribe ,&nbsp;Heinz Jungbluth","doi":"10.1016/j.nmd.2025.105335","DOIUrl":"10.1016/j.nmd.2025.105335","url":null,"abstract":"<div><div>Mutations in the ryanodine receptor type 1 (<em>RYR1)</em> gene are amongst the most common causes of early-onset, non-dystrophic neuromuscular disorders. <em>RYR1</em> mutations have also anecdotally been implicated in non-skeletal muscle symptoms such as an increased bleeding tendency particularly prominent in females, but the prevalence of these features is currently unknown. In this questionnaire-based study, we aimed to evaluate smooth muscle function, bleeding, obstetric, and gynaecological outcomes in <em>RYR1</em>-variant carrying females. Questions were developed using a modified version of the MCMDM-1VWD questionnaire, and the NHS-heavy periods self-assessment tool. Obstetric and gynaecological symptoms explored included pregnancy-related complications, gestation length, parturition duration, post-partum haemorrhage and offspring birthweight. Recruitment was online via the <em>RYR1</em>-Foundation patient support group and covered countries across the world. We identified 66 <em>RYR1</em>-variant carrying females and 88 non-mutated controls including unaffected relatives and the general healthy population. Women with <em>RYR1</em> variants exhibited a higher incidence of pathological bleeding scores (<em>p</em> &lt; 0.0001), severe menstrual bleeding, complications during pregnancy (preeclampsia and placenta praevia), frequent planned Caesarean sections, offspring with lower birthweight, and gastrointestinal symptoms, compared to controls. Considering their population frequency in otherwise pauci-symptomatic individuals, <em>RYR1</em> variants ought to be considered as a cause of unexplained menorrhagia and other gynaecological and obstetric manifestations.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"49 ","pages":"Article 105335"},"PeriodicalIF":2.7,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143520469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring sleep quality, depressive symptoms, and quality of life in adults with spinal muscular atrophy","authors":"Valentina Baldini ,&nbsp;Giorgia Varallo ,&nbsp;Stefania Redolfi ,&nbsp;Rocco Liguori ,&nbsp;Giuseppe Plazzi","doi":"10.1016/j.nmd.2025.105317","DOIUrl":"10.1016/j.nmd.2025.105317","url":null,"abstract":"<div><div>Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder caused by the mutation of the survival motor neuron 1 (SMN1) gene. Sleep disturbances and their impact on mental health and quality of life in patients with SMA are being understudied, and most of the evidence comes from pediatric SMA patients. We conducted a cross-sectional survey of adult patients with SMA. The participants underwent questionnaires exploring sleep quality with the Pittsburgh Sleep Quality Index (PSQI), depressive symptoms with the Patient Health Questionnaire-9 (PHQ-9), and quality of life with the Short-Form Health Survey 36 (SF-36). Fifty patients with SMA were enrolled in the study: 66 % were females with a median age of 41 years. Of them, 60 % had poor sleep quality, and 72 % had depressive symptoms. SMA 2 patients showed higher PSQI and PHQ-9 scores than SMA 3 patients (8 ± 3 vs 6 ± 1, <em>p</em> &lt; 0.001 and 13±5 vs 7 ± 5, <em>p</em> &lt; 0.001). PSQI total score correlated with the PHQ-9 (<em>r</em> = 0.32, <em>p</em> = 0.02), which was higher in patients with respiratory symptoms. Poor sleep is associated with depressive symptoms and respiratory dysfunction in adult SMA patients. Clinicians should consider sleep quality in SMA patients for optimal care; future studies are needed to understand this aspect better.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105317"},"PeriodicalIF":2.7,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143768840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies","authors":"R Finnegan ,&nbsp;AM Rohwer ,&nbsp;M Scoto ,&nbsp;M Main ,&nbsp;G Baranello ,&nbsp;A Manzur ,&nbsp;F Muntoni ,&nbsp;P Munot ,&nbsp;the SMA REACH UK","doi":"10.1016/j.nmd.2025.105313","DOIUrl":"10.1016/j.nmd.2025.105313","url":null,"abstract":"<div><div>With the availability of novel disease-modifying therapies (DMT), survival in spinal muscular atrophy (SMA) has significantly increased, but mortality is not rare in severely affected cases. To improve care further, we aimed to characterise causes of mortality in children with SMA over the last five years since the introduction of DMT. This was a retrospective review of all patients with SMA registered on SMA REACH UK database, who died between 2019 and 2023. In the last 5 years, 533 patients were registered with SMA REACH (6 pre-symptomatic; 1-SMA0; 247-SMA1; 188-SMA2; 91-SMA3). Twenty-five paediatric patients with SMA died in this period: 1 SMA0(4 %;1 copy-<em>SMN2</em>), 20 SMA1(80%;17 patients-2 copies of <em>SMN2</em> and 1 with 3 copies of <em>SMN2</em>) and 4 SMA2(16%). In SMA 1 cohort, 7/20(35%) patients were treatment naïve (5 ineligible; 1 died prior to commencement; 1 declined). Twelve patients received nusinersen; median age at treatment initiation of 6 months (range:1 month-12.3 years old) and median treatment duration of 6 months (range:1 month-6.5 years). One patient switched from nusinersen to risdiplam at age 4 years (died 19 months later) and 1 received onasemnogene abeparvovec at 2 years old (died 10 months later). The median age of death was 10.5 months(range:8 weeks-13 years), and 80%(16/20) died from respiratory-related causes. In SMA 2 cohort, 2/4 patients were not eligible for DMT and one received risdiplam at age 13 years for duration of 2.7 years and died as result of traumatic brain injury. The median age of death was 18 years 4 months (range:16–21 years). Two deaths were respiratory-related and one of sudden cardiac arrest. In conclusion, over the last 5 years, 5% of SMA patients registered with SMA REACH died. The majority had symptomatic SMA1 with 2 <em>SMN2</em> copies at the severe end of the spectrum and were either treatment naïve or had initiation of DMT after significant disease progression. Respiratory-related deaths occurred in 72% of known causes of death. Standard of care for respiratory management and ceiling of care discussions should continue to be a key part of the overall management particularly in those with severe disease at onset. These outcomes will be considerably improved once newborn screening will be available also in the UK.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"49 ","pages":"Article 105313"},"PeriodicalIF":2.7,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143520468","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}