Journal of neuromuscular diseases最新文献

筛选
英文 中文
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene. 一名 CACNA1S 基因 c.1583G>A (p.R528H) 突变的患者患有空泡化纤维和管状聚集但无周期性瘫痪的早发常染色体显性肌病。
IF 3.2 4区 医学
Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI: 10.3233/JND-230020
Michela Bisciglia, Hazim Kadhim, Sophie Lecomte, Isabelle Vandernoot, Laurence Desmyter, Gauthier Remiche
{"title":"Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.","authors":"Michela Bisciglia, Hazim Kadhim, Sophie Lecomte, Isabelle Vandernoot, Laurence Desmyter, Gauthier Remiche","doi":"10.3233/JND-230020","DOIUrl":"10.3233/JND-230020","url":null,"abstract":"<p><p>Dominant mutations in CACNA1S gene mainly causes hypokalemic periodic paralysis (PP)(hypoPP). A 68-year-old male proband developed a progressive proximal weakness from the age of 35. Muscle biopsy showed atrophic fibers with vacuoles containing tubular aggregates. Exome sequencing revealed a heterozygous p.R528H (c.1583G>A) mutation in the CACNA1S gene. CACNA1S-related HypoPP evolving to persistent myopathy in late adulthood is a well-known clinical condition. However, isolated progressive myopathy (without PP) was only exceptionally reported and never with an early onset. Reporting a case of early onset CACNA1S-related myopathy in a patient with no HypoPP we intend to alert clinicians to consider it in the differential diagnosis of younger adult-onset myopathies especially when featuring vacuolar changes.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"871-875"},"PeriodicalIF":3.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11307083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141093716","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
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment. ExoBand,一种作为神经肌肉患者行走辅助工具的无源可穿戴设备:首次定量评估。
IF 3.2 4区 医学
Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI: 10.3233/JND-240021
Claudio Semplicini, Michela Agostini, Cinzia Andrigo, Stefano Masiero, Francesco Piccione, Gianni Sorarù
{"title":"ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment.","authors":"Claudio Semplicini, Michela Agostini, Cinzia Andrigo, Stefano Masiero, Francesco Piccione, Gianni Sorarù","doi":"10.3233/JND-240021","DOIUrl":"10.3233/JND-240021","url":null,"abstract":"<p><strong>Objective: </strong>Exoband (by Moveo, Padova, Italy) functions as a walking brace, comprising a belt and two leg loops connected by a mechanism that stores energy during the initial phase of the gait cycle and releases it in the subsequent phase. This enhances hip flexor thrust, leading to functional improvement in walking for individuals with conditions characterized by proximal weakness. It has been approved as a passive wearable device for individuals with impaired walking abilities. Objective of this study was to establish a protocol to assess the use of Exoband in patients with various neuromuscular disorders.</p><p><strong>Methods: </strong>This exploratory retrospective study includes consecutive patients diagnosed with neuromuscular disorders (CIDP, motor polyneuropathy, MND), exhibiting a proximal involvement and gait abnormalities. The evaluation protocol incorporated specific walking-related outcome measures, the 10-meter walk test (10mWT), Time-up-and-go test (TUG), and 2-minute walking test (2MWT). The assessments were conducted both with and without the Exoband under standard conditions.</p><p><strong>Results: </strong>Eight patients (6 males, aged 60-78 years) were tested. An increase in velocity was observed in the 10mWT (median 13.4 sec, IQR 12.0-15.7 vs. 12.2 sec, IQR 11.3-14.2 seconds, p < 0.05) and the TUG (14.0 sec, IQR 13-16.2 vs 13.35 sec, IQR 11-13.8; p < 0.05, by non-parametric Wilcoxon test), and a trend of increase in 2MWT (median 88.2 vs 92.6 m, n.s.). Six out of 8 patients reported subjective benefits from the very first use, including improved walking stability, speed, confidence, and reduced fatigue.</p><p><strong>Conclusions: </strong>Our protocol provides a quantitative assessment of Exoband usefulness for patients affected by neuropathies with gait abnormalities. Further investigations are warranted to assess the long-term effects of its regular Exoband use, its efficacy in specific neuromuscular diseases, and its potential role as a rehabilitation device.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"877-881"},"PeriodicalIF":3.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11307065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141093723","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
Longitudinal Course of Long Finger Flexor Shortening in Males with Duchenne Muscular Dystrophy: A Retrospective Review1. Duchenne肌营养不良男性长指屈肌缩短的纵向过程:回顾性综述†。
IF 3.3 4区 医学
Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI: 10.3233/JND-221653
Saskia L S Houwen-van Opstal, Menno van der Holst, Michel A A P Willemsen, Erik H Niks, Imelda J M De Groot, Edith H C Cup
{"title":"Longitudinal Course of Long Finger Flexor Shortening in Males with Duchenne Muscular Dystrophy: A Retrospective Review1.","authors":"Saskia L S Houwen-van Opstal, Menno van der Holst, Michel A A P Willemsen, Erik H Niks, Imelda J M De Groot, Edith H C Cup","doi":"10.3233/JND-221653","DOIUrl":"10.3233/JND-221653","url":null,"abstract":"<p><strong>Background: </strong>Shortening of the long finger flexors (Flexor Digitorum Profundus, FDPs) in Duchenne Muscular Dystrophy (DMD) causes reduced hand function. Until now, longitudinal studies on the natural course of the shortening of the FDPs are lacking, which impedes recommendations on timing and evaluation of preventive measures.</p><p><strong>Objective: </strong>To investigate the longitudinal course of the FDP length during different disease stages focusing on symmetry, timing, and decline of the FDP length.</p><p><strong>Methods: </strong>A retrospective, longitudinal multicenter study was conducted in the Radboud university medical center and the Leiden university medical center. The FDP outcome was measured using goniometry and gross motor function was assessed using the Brooke score. Longitudinal mixed model analyses were used to describe the course of the FDP outcome, and to investigate symmetry in both hands.</p><p><strong>Results: </strong>Data on 534 visits of 197 males (age ranged 4-48 years) showed that in the ambulatory stages the FDP outcome was within a normal range. The mean decline in FDP outcome is 3.5 degrees per year, the biggest decline was seen in Brooke 5 (>15 degrees per year). In Brooke 4, 41% of the FDP outcome was < 40 degrees. No significant differences were found between right and left.</p><p><strong>Conclusions: </strong>This study supports the consideration of preventive measures to delay shortening of the FDPs in DMD patients transitioning to a Brooke scale of 4 or higher. Besides, natural history of FDP outcome has been established, which provides a base to evaluate (preventive) interventions.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"17-23"},"PeriodicalIF":3.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789324/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71482627","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":" ","pages":"85-90"},"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
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":" ","pages":"389-410"},"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
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":" ","pages":"493-498"},"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
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":" ","pages":"647-653"},"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
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":" ","pages":"221-232"},"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":" ","pages":"179-189"},"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":" ","pages":"375-387"},"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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信