Journal of neuromuscular diseases最新文献

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A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient. 印度患者的一种新型 Frabin(FGD4)突变导致轻度 CMT4H 表型。
IF 3.3 4区 医学
Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI: 10.3233/JND-230042
Vikas Nishadham, Rashmi Santhoshkumar, Saraswati Nashi, Seena Vengalil, Mainak Bardhan, Kiran Polavarapu, Sai Bhargava Sanka, Ram Murthy Anjanappa, Karthik Kulanthaivelu, Jitender Saini, Yasha T Chickabasaviah, Atchayaram Nalini
{"title":"A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.","authors":"Vikas Nishadham, Rashmi Santhoshkumar, Saraswati Nashi, Seena Vengalil, Mainak Bardhan, Kiran Polavarapu, Sai Bhargava Sanka, Ram Murthy Anjanappa, Karthik Kulanthaivelu, Jitender Saini, Yasha T Chickabasaviah, Atchayaram Nalini","doi":"10.3233/JND-230042","DOIUrl":"10.3233/JND-230042","url":null,"abstract":"<p><p>Charcot-Marie-Tooth disease 4H(CMT4H) is an autosomal recessive demyelinating form of CMT caused by FGD4/FRABIN mutations. CMT4H is characterized by early onset and slowly progressing motor and sensory deficits in the distal extremities, along with foot deformities. We describe a patient with CMT4H who presented with rapidly progressing flaccid quadriparesis during the postpartum period, which improved significantly with steroid therapy. Magnetic resonance imaging and ultrasonography demonstrated considerable nerve thickening with increased cross-sectional area in the peripheral nerves. A nerve biopsy revealed significant demyelination and myelin outfolding. This is the first report of an Indian patient with a novel homozygous nonsense c.1672C>T (p.Arg558Ter) mutation in the FGD4 gene, expanding the mutational and phenotypic spectrum of this disease.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138803699","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
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity. 苏格兰西部 m.3243A>G 变异线粒体个体队列:表型变异和疾病严重程度的预测因素。
IF 3.3 4区 医学
Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI: 10.3233/JND-230166
Charlie Saunders, Cheryl Longman, Grainne Gorman, Kelly James, Agata Oliwa, Richard Petty, Lesley Snadden, Maria Elena Farrugia
{"title":"The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.","authors":"Charlie Saunders, Cheryl Longman, Grainne Gorman, Kelly James, Agata Oliwa, Richard Petty, Lesley Snadden, Maria Elena Farrugia","doi":"10.3233/JND-230166","DOIUrl":"10.3233/JND-230166","url":null,"abstract":"<p><strong>Background: </strong>The m.3243A>G variant is the commonest mitochondrial (mt) DNA pathogenic variant and a frequent cause of mitochondrial disease. Individuals present with a variety of clinical manifestations from diabetes to neurological events resembling strokes. Due to this, patients are commonly cared for by a multidisciplinary team.</p><p><strong>Objectives: </strong>This project aimed to identify patients with confirmed mt.3243A>G-related mitochondrial disease attending the Muscle Clinic at Queen Elizabeth University Hospital in Glasgow. We explored potential correlates between clinical phenotypes and mtDNA heteroplasmy levels, HbA1c levels, body mass index, and specific clinical manifestations. We investigated if there were discrepancies between non-neurological speciality labelling in clinical records and individuals' phenotypes.</p><p><strong>Methods: </strong>Data were gathered from the West of Scotland electronic records. Phenotypes were ascertained by a clinician with expertise in mitochondrial disorders. Statistical analyses were applied to study relationships between tissue heteroplasmy, HbA1c and clinical phenotypes including body mass index (BMI).</p><p><strong>Results: </strong>Forty-six individuals were identified from 31 unrelated pedigrees. Maternally inherited diabetes and deafness was the prominent syndromic phenotype (48%). A significant association was found between overall number of symptoms and bowel dysmotility (p < 0.01). HbA1c was investigated as a predictor of severity with potential association seen. Although used widely as a prognosticator, neither corrected blood nor urine mtDNA heteroplasmy levels were associated with increased number of symptoms. In 74.1% of records, syndromic phenotypes were incorrectly used by non-neurological specialities.</p><p><strong>Conclusions: </strong>This m.3243 A > G patient cohort present with marked clinical heterogeneity. Urine and blood heteroplasmy levels are not reliable predictors of disease severity. HbA1c may be a novel predictor of disease severity with further research required to investigate this association. We infer that prognosis may be worse in patients with low BMIs and in those with bowel dysmotility. These results underscore a multidisciplinary approach and highlight a problem with inaccurate use of the existing nomenclature.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138803709","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
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study. 贝克型肌肉萎缩症表型变异性的特征描述,为临床实践和试验做好准备:两年跟踪研究
IF 3.3 4区 医学
Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI: 10.3233/JND-221513
Giulia Ricci, Alessandra Govoni, Francesca Torri, Guja Astrea, Bianca Buchignani, Gemma Marinella, Roberta Battini, Maria Laura Manca, Vincenzo Castiglione, Alberto Giannoni, Michele Emdin, Gabriele Siciliano
{"title":"Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study.","authors":"Giulia Ricci, Alessandra Govoni, Francesca Torri, Guja Astrea, Bianca Buchignani, Gemma Marinella, Roberta Battini, Maria Laura Manca, Vincenzo Castiglione, Alberto Giannoni, Michele Emdin, Gabriele Siciliano","doi":"10.3233/JND-221513","DOIUrl":"10.3233/JND-221513","url":null,"abstract":"<p><strong>Background: </strong>Becker muscular dystrophy (BMD) is a dystrophinopathy due to in-frame mutations in the dystrophin gene (DMD) which determines a reduction of dystrophin at muscle level. BMD has a wide spectrum of clinical variability with different degrees of disability. Studies of natural history are needed also in view of up-coming clinical trials.</p><p><strong>Objectives: </strong>From an initial cohort of 32 BMD adult subjects, we present a detailed phenotypic characterization of 28 patients, then providing a description of their clinical natural history over the course of 12 months for 18 and 24 months for 13 of them.</p><p><strong>Methods: </strong>Each patient has been genetically characterized. Baseline, and 1-year and 2 years assessments included North Star Ambulatory Assessment (NSAA), timed function tests (time to climb and descend four stairs), 6-minute walk test (6MWT), Walton and Gardner-Medwin Scale and Medical Research Council (MRC) scale. Muscle magnetic resonance imaging (MRI) was acquired at baseline and in a subgroup of 9 patients after 24 months. Data on cardiac function (electrocardiogram, echocardiogram, and cardiac MRI) were also collected.</p><p><strong>Results and conclusions: </strong>Among the clinical heterogeneity, a more severe involvement is often observed in patients with 45-X del, with a disease progression over two years. The 6MWT appears sensitive to detect modification from baseline during follow up while no variation was observed by MRC testing. Muscle MRI of the lower limbs correlates with clinical parameters.Our study further highlights how the phenotypic variability of BMD adult patients makes it difficult to describe an uniform course and substantiates the need to identify predictive parameters and biomarkers to stratify patients.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10977409/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139377833","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
The First Decade of Journal of Neuromuscular Diseases: Supporting and Advancing the Rapidly Evolving Field of Translational Research. 神经肌肉疾病杂志》的第一个十年:支持和推动快速发展的转化研究领域。
IF 3.3 4区 医学
Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI: 10.3233/JND-249000
Hanns Lochmüller, Carsten G Bönnemann
{"title":"The First Decade of Journal of Neuromuscular Diseases: Supporting and Advancing the Rapidly Evolving Field of Translational Research.","authors":"Hanns Lochmüller, Carsten G Bönnemann","doi":"10.3233/JND-249000","DOIUrl":"10.3233/JND-249000","url":null,"abstract":"","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789322/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139377836","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
Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies - A Case Report. 一名有三个 SMN2 基因拷贝的无症状 SMA 患者的重复 AAV9 效价测定 - 病例报告。
IF 3.3 4区 医学
Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI: 10.3233/JND-221659
Astrid Eisenkölbl, Manuel Pühringer
{"title":"Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies - A Case Report.","authors":"Astrid Eisenkölbl, Manuel Pühringer","doi":"10.3233/JND-221659","DOIUrl":"10.3233/JND-221659","url":null,"abstract":"<p><p>Adeno-associated viruses (AAV) are well-suited to serve as gene transfer vectors. Onasemnogene abeparvovec uses AAV9 as virus vector. Previous exposure to wild-type AAVs or placental transfer of maternal AAV antibodies, however, can trigger an immune response to the vector virus which may limit the therapeutic effectiveness of gene transfer and impact safety. We present the case of a female patient with spinal muscular atrophy (SMA) and three survival motor neuron 2 (SMN2) gene copies. The infant had elevated titers of AAV9 antibodies at diagnosis at 9 days of age. Being presymptomatic at diagnosis, it was decided to retest the patient's AAV9 antibody titer at two-weekly intervals. Six weeks after initial diagnosis, a titer of 1:12.5 allowed treatment with onasemnogene abeparvovec. The presented case demonstrates that, provided the number of SMN2 gene copies and the absence of symptoms allow, onasemnogene abeparvovec therapy is feasible in patients with initially exclusionary AAV9 antibody titers of >1:50.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10977412/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139671997","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
Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND). 用于筛查杜兴氏肌肉萎缩症相关神经行为障碍 (DuMAND) 的 DuMAND 核对表的开发和试点验证。
IF 3.2 4区 医学
Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI: 10.3233/JND-240012
Sam Geuens, Nathalie Goemans, Jurgen Lemiere, Nathalie Doorenweerd, Liesbeth De Waele
{"title":"Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND).","authors":"Sam Geuens, Nathalie Goemans, Jurgen Lemiere, Nathalie Doorenweerd, Liesbeth De Waele","doi":"10.3233/JND-240012","DOIUrl":"10.3233/JND-240012","url":null,"abstract":"<p><strong>Background: </strong>Patients with Duchenne muscular dystrophy (DMD) face a higher risk of neurobehavioral problems, yet an international consensus on screening, assessing, and managing these difficulties is lacking.</p><p><strong>Objective: </strong>This report introduces the term Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND) to comprehensively cover the spectrum of neurobehavioral issues in DMD patients, including behavior, psychiatric disorders, and various cognitive, academic, and psychosocial deficits. To facilitate screening, the DuMAND Checklist, a 43-item tool with five subscales, was developed.</p><p><strong>Methods and results: </strong>DuMAND categories were derived through literature review, parent (48 mothers and 37 fathers), and expert (n = 28) input and feedback. The DuMAND Checklist subscales were developed iteratively, incorporating item selection, expert panel (n = 10) assessment for face validity, comprehensiveness, and a pilot validation study in a DMD sample (n = 20). DuMAND encompasses five categories: cognition and learning, social responsiveness, emotion regulation, externalizing behavior, and eating and sleeping. Preliminary validation of the DuMAND Checklist indicates acceptable-to-excellent internal consistency and construct validity.</p><p><strong>Conclusion: </strong>By introducing the DuMAND concept, this study seeks to inspire a consensus approach for screening, assessing, and managing neurobehavioral issues in DMD. Incorporating screening, using the DuMAND Checklist, in addition to medical follow-up will facilitate early intervention, addressing a critical gap in identification of neurobehavioral disorders in DMD. Future research is needed to further evaluate psychometric properties of the DuMAND Checklist and investigate the natural course of DuMAND.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11307047/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140904758","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
Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom. 吞咽困难的生活:英国神经肌肉疾病患者及其护理人员的经历调查。
IF 3.3 4区 医学
Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI: 10.3233/JND-230002
Jodi Allen, Aoife Stone-Ghariani, Gabriella Quezada, Donna Banks, Frank Rose, William Knight, Jill Newman, William Newman, Philip Anderson, Christina Smith
{"title":"Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom.","authors":"Jodi Allen, Aoife Stone-Ghariani, Gabriella Quezada, Donna Banks, Frank Rose, William Knight, Jill Newman, William Newman, Philip Anderson, Christina Smith","doi":"10.3233/JND-230002","DOIUrl":"10.3233/JND-230002","url":null,"abstract":"<p><strong>Background: </strong>Dysphagia is common in adults living with neuromuscular disease (NMD). Increased life expectancy, secondary to improvements in standards of care, requires the recognition and treatment of dysphagia with an increased priority. Evidence to support the establishment of healthcare pathways is, however, lacking. The experiences of people living with NMD (pplwNMD) and their caregivers are valuable to guide targeted, value-based healthcare.</p><p><strong>Objective: </strong>To generate preliminary considerations for neuromuscular dysphagia care and future research in the United Kingdom, based on the experiences of those living with, or caring for, people with NMD.</p><p><strong>Methods: </strong>Two surveys (one for adults living with NMD and dysphagia, and a second for caregivers) were co-designed with an advisory group of people living with NMD. Surveys were electronically distributed to adults living with NMD and their caregivers between 18th May and 26th July 2020. Distribution was through UK disease registries, charity websites, newsletters, and social media.</p><p><strong>Results: </strong>Adults living with NMD receive little information or education that they are likely to develop swallowing difficulties. Most respondents report wanting this information prior to developing these difficulties. Difficulties with swallowing food and medication are common in this group, and instrumental assessment is considered a helpful assessment tool. Both adults living with NMD and caregivers want earlier access to neuromuscular swallowing specialists and training in how best to manage their difficulties.</p><p><strong>Conclusions: </strong>Improvement is needed in the dysphagia healthcare pathway for adults living with NMD to help mitigate any profound physical and psychological consequences that may be caused by dysphagia. Education about swallowing difficulties and early referral to a neuromuscular swallowing specialist are important to pplwNMD and their caregivers. Further research is required to better understand the experiences of pplwNMD and their caregivers to inform the development of dysphagia healthcare pathways.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10977401/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139512840","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
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy. 提高诊断精确度:表型驱动的分析发现了一名 RYR1 先天性肌病患者的母体嵌合体。
IF 3.3 4区 医学
Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI: 10.3233/JND-230216
Berta Estévez-Arias, Leslie Matalonga, Loreto Martorell, Anna Codina, Carlos Ortez, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Janet Hoenicka, Cristina Jou, Francesc Palau, Sergi Beltran, Hanns Lochmüller, Ana Töpf, Andrés Nascimento, Daniel Natera-de Benito
{"title":"Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.","authors":"Berta Estévez-Arias, Leslie Matalonga, Loreto Martorell, Anna Codina, Carlos Ortez, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Janet Hoenicka, Cristina Jou, Francesc Palau, Sergi Beltran, Hanns Lochmüller, Ana Töpf, Andrés Nascimento, Daniel Natera-de Benito","doi":"10.3233/JND-230216","DOIUrl":"10.3233/JND-230216","url":null,"abstract":"<p><p>Congenital myopathies (CMs) are rare genetic disorders for which the diagnostic yield does not typically exceed 60% . We performed deep phenotyping, histopathological studies, clinical exome and trio genome sequencing and a phenotype-driven analysis of the genomic data, that led to the molecular diagnosis in a child with CM. We identified a heterozygous variant in RYR1 in the affected child, inherited from her asymptomatic mother. Given the alignment of the clinical and histopathological phenotype with RYR1-CM, we considered the potential existence of a missing second variant in trans in the proband, but also hypothesized that the variant might be mosaic in the mother, as subsequently demonstrated. Our study is an example of how heterozygous variants inherited from asymptomatic parents are frequently dismissed. When the genotype-phenotype correlation is strong, it is recommended to consider a parental mosaicism.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11091619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140136842","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
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data. chop - intent可以作为婴儿出生头几个月的结果测量吗?对临床试验和真实世界数据的影响。
IF 3.3 4区 医学
Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI: 10.3233/JND-221644
Costanza Cutrona, Roberto de Sanctis, Giorgia Coratti, Anna Capasso, Martina Ricci, Giulia Stanca, Sara Carnicella, Meric Utlulig, Giulia Bersani, Ilaria Lazzareschi, Chiara Leoni, Danilo Buonsenso, Rita Luciano, Giovanni Vento, Richard S Finkel, Marika Pane, Eugenio Mercuri
{"title":"Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data.","authors":"Costanza Cutrona, Roberto de Sanctis, Giorgia Coratti, Anna Capasso, Martina Ricci, Giulia Stanca, Sara Carnicella, Meric Utlulig, Giulia Bersani, Ilaria Lazzareschi, Chiara Leoni, Danilo Buonsenso, Rita Luciano, Giovanni Vento, Richard S Finkel, Marika Pane, Eugenio Mercuri","doi":"10.3233/JND-221644","DOIUrl":"10.3233/JND-221644","url":null,"abstract":"<p><strong>Background: </strong>The CHOP-INTEND is an established outcome measure used to assess motor function in young and weak SMA patients previously validated in type I infants older than 3 months.</p><p><strong>Objective: </strong>The aim of our study was to assess the maturation of the CHOP-INTEND scores in a group of healthy infants, establishing which items of the scale can be reliably used in individuals younger than 3 months.</p><p><strong>Methods: </strong>This is a prospective observational study. The whole cohort was divided into 5 age groups. Each of the 16 CHOP-INTEND items was analyzed looking at the frequency distribution of the scores in each age subgroup. An item was considered developmentally appropriate when > 85% of the infants achieved a full score.</p><p><strong>Results: </strong>our study includes 61 assessments collected < 2 weeks, 25 at 2-4 weeks, 20 at 5-8 weeks, 25 at 9-12 weeks and 20 at 13-17 weeks. Eight of the 16 items were developmentally appropriate already in the first week and another by the end of the first month. The remaining 7 items had more variable responses in the first three months and full scores were consistently achieved only after the third month.</p><p><strong>Conclusions: </strong>Our findings suggest that the CHOP-INTEND can be used before the age of 3 months, but the results should be interpreted with caution, considering which items are developmentally appropriate at the time of testing. This will also help to establish whether the changes observed following early treatments are a sign of efficacy or at least partly reflect maturational aspects.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138047132","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
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy. 与儿童早期发病、快速进展的全身肌病有关的 HNRNPA1 新生变异体。
IF 3.2 4区 医学
Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI: 10.3233/JND-240050
Andreas Roos, Martin Häusler, Laxmikanth Kollipara, Ana Topf, Corinna Preusse, Rolf Stucka, Kay Nolte, Tim Strom, Riccardo Berutti, Xuehui Jiang, Randi Koll, Hanns Lochmüller, Sabine Maria Schacht, René P Zahedi, Joachim Weis, Jan Senderek
{"title":"HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.","authors":"Andreas Roos, Martin Häusler, Laxmikanth Kollipara, Ana Topf, Corinna Preusse, Rolf Stucka, Kay Nolte, Tim Strom, Riccardo Berutti, Xuehui Jiang, Randi Koll, Hanns Lochmüller, Sabine Maria Schacht, René P Zahedi, Joachim Weis, Jan Senderek","doi":"10.3233/JND-240050","DOIUrl":"10.3233/JND-240050","url":null,"abstract":"<p><p>HNRNPA1 variants are known to cause degenerative motoneuron and muscle diseases which manifests in middle age or later. We report on a girl with early childhood onset, rapidly progressive generalized myopathy including ultrastructural findings in line with a proteinopathy. Proteomics of patient-derived muscle and combined screening of genomic data for copy number variations identified a HNRNPA1 de novo intragenic deletion as causative for the phenotype. Our report expands the spectrum of HNRNPA1-related diseases towards early-childhood onset and adds HNRNPA1 to the growing list of ALS and myopathy genes for which certain mutations may cause severe pediatric phenotypes.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380306/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141909884","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}
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