Neuromuscular Disorders最新文献_第2页

Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-15 DOI: 10.1016/j.nmd.2025.105343

Taylor Watson-Fargie , Autumn Coomber , Rachel Edwards , Marianne Barr , Kathryn Brennan , Elaine Fletcher , Eve Miller-Hodges , Dawn O'Sullivan , Kirsty Stewart , Sila Hopton , Langping He , Charlotte L Alston , Robert W Taylor , Ana Töpf , Volker Straub , William Stewart , Cheryl Longman , Maria E Farrugia

{"title":"Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland","authors":"Taylor Watson-Fargie , Autumn Coomber , Rachel Edwards , Marianne Barr , Kathryn Brennan , Elaine Fletcher , Eve Miller-Hodges , Dawn O'Sullivan , Kirsty Stewart , Sila Hopton , Langping He , Charlotte L Alston , Robert W Taylor , Ana Töpf , Volker Straub , William Stewart , Cheryl Longman , Maria E Farrugia","doi":"10.1016/j.nmd.2025.105343","DOIUrl":"10.1016/j.nmd.2025.105343","url":null,"abstract":"<div><div>Multiple-acyl-CoA-dehydrogenase deficiency (MADD) is a rare metabolic disorder affecting fatty acid and amino acid metabolism. Local experience and evolving literature highlights a paucity of genetically confirmed cases. A retrospective analysis of patients attending the West of Scotland neuromuscular service with a working diagnosis of late-onset MADD was undertaken. Nineteen cases were identified with median onset age of 52 years and female predominance. 8/19 presented with rhabdomyolysis and 11/19 with a subacute myopathy over mean 12.6 months. 14/19 had evidence of a provoking factor prior to clinical presentation and 16/19 had current sertraline use. All cases had abnormal acylcarnitine profiles in keeping with a MADDlike profile and abnormal skeletal muscle biopsies. Abnormal lipid accumulation was seen in 14/19, ranging from mild increase in lipid droplet size to gross lipid excess in seven cases. 4/19 were heterozygous for likely pathogenic ETFDH gene variants; no second variants were identified within the limits of testing available. All showed variable improvement following riboflavin therapy, advice on nutrition and advice on sertraline discontinuation. We suggest a late-onset MADD-like myopathy is much more common in the cohort than primary genetic MADD. Non-genetic and acquired factors may be causative, in keeping with the evolving literature.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"49 ","pages":"Article 105343"},"PeriodicalIF":2.7,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143726143","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}

引用次数: 0

Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-14 DOI: 10.1016/j.nmd.2025.105341

R Muni-Lofra , G Coratti , T Duong , J Medina-Cantillo , M Civitello , A Mayhew , R Finkel , E Mercuri , C Marini-Bettolo , F Muntoni

{"title":"Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review","authors":"R Muni-Lofra , G Coratti , T Duong , J Medina-Cantillo , M Civitello , A Mayhew , R Finkel , E Mercuri , C Marini-Bettolo , 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}

引用次数: 0

The widening genetic and myopathologic spectrum of congenital myopathies (CMYOs): a narrative review

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-07 DOI: 10.1016/j.nmd.2025.105338

Marion Onnée , Edoardo Malfatti

引用次数: 0

UPDATE IN NEUROMUSCULAR DISORDERS

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-01 DOI: 10.1016/S0960-8966(25)00053-7

引用次数: 0

Vienna WMS 2025

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-01 DOI: 10.1016/S0960-8966(25)00054-9

引用次数: 0

WMS General Information

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-01 DOI: 10.1016/S0960-8966(25)00056-2

引用次数: 0

ENMC Mid-Career Mentoring Programme applications

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-01 DOI: 10.1016/j.nmd.2025.105337

引用次数: 0

Fluoroscopic guidance for intrathecal delivery of nusinersen in pediatric patients with spinal muscular atrophy and complex spines

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-01 DOI: 10.1016/j.nmd.2025.105336

Shany Lando - Dotan , Eliyahu Perlow , Vered Shkalim Zemer , Hagit Levine , Elchanan Bruckheimer , Yelena Tzeitlin , Tamar Steinberg , Yoram Nevo , Tzipora Shochat , Sharon Aharoni

{"title":"Fluoroscopic guidance for intrathecal delivery of nusinersen in pediatric patients with spinal muscular atrophy and complex spines","authors":"Shany Lando - Dotan , Eliyahu Perlow , Vered Shkalim Zemer , Hagit Levine , Elchanan Bruckheimer , Yelena Tzeitlin , Tamar Steinberg , Yoram Nevo , Tzipora Shochat , 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 Gycm<sup>2</sup>; 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}

引用次数: 0

Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-02-22 DOI: 10.1016/j.nmd.2025.105335

Arti M Mistry , Georgia Saldanha , Luuk R van den Bersselaar , Greg A Knock , Michael F Goldberg , Maria I Vanegas , Miguel A Fernandez-Garcia , Susan Treves , Nicol C Voermans , Rachel M Tribe , Heinz Jungbluth

{"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 , Georgia Saldanha , Luuk R van den Bersselaar , Greg A Knock , Michael F Goldberg , Maria I Vanegas , Miguel A Fernandez-Garcia , Susan Treves , Nicol C Voermans , Rachel M Tribe , 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> < 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}

引用次数: 0

Exploring sleep quality, depressive symptoms, and quality of life in adults with spinal muscular atrophy

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-02-21 DOI: 10.1016/j.nmd.2025.105317

Valentina Baldini , Giorgia Varallo , Stefania Redolfi , Rocco Liguori , Giuseppe Plazzi

{"title":"Exploring sleep quality, depressive symptoms, and quality of life in adults with spinal muscular atrophy","authors":"Valentina Baldini , Giorgia Varallo , Stefania Redolfi , Rocco Liguori , 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> < 0.001 and 13±5 vs 7 ± 5, <em>p</em> < 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}

引用次数: 0