keyword
https://read.qxmd.com/read/38124127/effectiveness-of-conservative-non-pharmacological-interventions-in-people-with-muscular-dystrophies-a-systematic-review-and-meta-analysis
#21
JOURNAL ARTICLE
Enza Leone, Anand Pandyan, Alison Rogers, Richa Kulshrestha, Jonathan Hill, Fraser Philp
INTRODUCTION: Management of muscular dystrophies (MD) relies on conservative non-pharmacological treatments, but evidence of their effectiveness is limited and inconclusive. OBJECTIVE: To investigate the effectiveness of conservative non-pharmacological interventions for MD physical management. METHODS: This systematic review and meta-analysis followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and searched Medline, CINHAL, Embase, AMED and Cochrane Central Register of Controlled Trial (inception to August 2022)...
December 12, 2023: Journal of Neurology, Neurosurgery, and Psychiatry
https://read.qxmd.com/read/38110300/novel-five-nucleotide-deletion-in-dysferlin-leads-to-autosomal-recessive-limb-girdle-muscular-dystrophy
#22
Yen-Lin Chen, Wen-Bin Wu, Pei Wang, Ping-Keung Yip, Yi-No Wu, Ying-Hung Lin, Wei-Ning Lin
Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb-girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles. LGMD is classified into autosomal dominant (LGMD-D) and autosomal recessive (LGMD-R) inheritance patterns. Mutations in the Dysferlin gene (DYSF) are common causes of LGMD-R. However, genetic screening of DYSF mutations is rare in Taiwan. Herein, we identified a novel c.2867_2871del ACCAG deletion and a previously reported c...
December 2023: Physiological Reports
https://read.qxmd.com/read/38106380/participant-experiences-of-guided-self-help-acceptance-and-commitment-therapy-for-improving-quality-of-life-in-muscle-disease-a-nested-qualitative-study-within-the-actmus-randomized-controlled-trial
#23
JOURNAL ARTICLE
Victoria Edwards, Chiara Vari, Michael Rose, Christopher D Graham, Nicola O'Connell, Emma Taylor, Lance M McCracken, Aleksandar Radunovic, Wojtek Rakowicz, Sam Norton, Trudie Chalder
INTRODUCTION: In adults, muscle disease (MD) is typically a chronic long-term condition that can lead to a reduced quality of life (QoL). Previous research suggests that a psychological intervention, in particular Acceptance and Commitment Therapy (ACT), may help improve QoL for individuals living with chronic conditions such as MD. METHODS: This nested qualitative study was incorporated within a randomized controlled trial which evaluated a guided self-help ACT intervention for people living with MD to explore their experiences of the intervention...
2023: Frontiers in Psychology
https://read.qxmd.com/read/38104240/engineered-mischarged-transfer-rnas-for-correcting-pathogenic-missense-mutations
#24
JOURNAL ARTICLE
Yichen Hou, Wen Zhang, Philip T McGilvray, Marek Sobczyk, Tianxin Wang, Shao Huan Samuel Weng, Allen Huff, Sihao Huang, Noah Pena, Christopher D Katanski, Tao Pan
Missense mutations account for approximately 50% of pathogenic mutations in human genetic diseases, and most lack effective treatments. Gene therapies, gene editing, and RNA therapies, including transfer RNA (tRNA) modalities, are common strategies for genetic disease treatments. However, reported tRNA therapies are for nonsense mutations only. It has not been explored how tRNAs can be engineered to correct missense mutations. Here, we describe missense-correcting tRNAs (mc-tRNAs) as a potential therapeutic for correcting pathogenic missense mutations...
December 16, 2023: Molecular Therapy
https://read.qxmd.com/read/38052666/hnrnpa2b1-myopathy-presenting-in-a-family-with-an-early-onset-oculopharyngeal-muscular-dystrophy-like-phenotype
#25
Liam S Carroll, Sarah Ennis, Nicola Foulds, Simon R Hammans
Genetic variation at HNRNPA2B1 is associated with inclusion body myopathy, Paget's disease and paediatric onset oculopharyngeal muscular dystrophy. We present a pedigree where a mother and two daughters presented with adolescent to early-adulthood onset of symptoms reminiscent of oculopharyngeal muscular dystrophy or chronic progressive external ophthalmoplegia, with a later limb-girdle pattern of weakness. Creatine Kinase was ∼1000 U/L. Myoimaging identified fatty replacement of sartorius, adductors longus and magnus, biceps femoris, semitendinosus and gastrocnemii...
November 17, 2023: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38045992/genetic-patterns-of-selected-muscular-dystrophies-in-the-muscular-dystrophy-surveillance-tracking-and-research-network
#26
JOURNAL ARTICLE
Peter B Kang, Magali Jorand-Fletcher, Wanfang Zhang, Suzanne W McDermott, Reba Berry, Chelsea Chambers, Kristen N Wong, Yara Mohamed, Shiny Thomas, Y Swamy Venkatesh, Christina Westfield, Nedra Whitehead, Nicholas E Johnson
BACKGROUND AND OBJECTIVES: To report the genetic etiologies of Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), congenital muscular dystrophy (CMD), and distal muscular dystrophy (DD) in 6 geographically defined areas of the United States. METHODS: This was a cross-sectional, population-based study in which we studied the genes and variants associated with muscular dystrophy in individuals who were diagnosed with and received care for EDMD, LGMD, CMD, and DD from January 1, 2008, through December 31, 2016, in the 6 areas of the United States covered by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net )...
December 2023: Neurology. Genetics
https://read.qxmd.com/read/38043978/gene-therapy-for-primary-myopathies-literature-review-and-prospects
#27
REVIEW
Giorgia Querin, Marina Colella
Gene therapy has emerged as a promising frontier in the pursuit of effective treatments for primary myopathies. This scientific review explores the application of viral vectors and more specifically of recombinant adeno-associated virus (rAAV) vectors as a potent gene delivery tool in the context of primary myopathies, highlighting its transformative potential. Focusing on primary myopathies, including Duchenne muscular dystrophy (DMD), limb-girdle muscular dystrophies (LGMDs), X-linked myotubular myopathy (XLMTM), and Pompe disease, we review the ongoing pre-clinical and clinical trials that underscore the therapeutic promise of rAAV-based gene therapies...
November 2023: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://read.qxmd.com/read/38020204/crispr-cas9-genome-editing-in-lgmd2a-r1-patient-derived-induced-pluripotent-stem-and-skeletal-muscle-progenitor-cells
#28
JOURNAL ARTICLE
Lampros Mavrommatis, Abdul Zaben, Urs Kindler, Marie-Cécile Kienitz, Julienne Dietz, Hyun-Woo Jeong, Pierre Böhme, Beate Brand-Saberi, Matthias Vorgerd, Holm Zaehres
Large numbers of Calpain 3 (CAPN3) mutations cause recessive forms of limb-girdle muscular dystrophy (LGMD2A/LGMDR1) with selective atrophy of the proximal limb muscles. We have generated induced pluripotent stem cells (iPSC) from a patient with two mutations in exon 3 and exon 4 at the calpain 3 locus (W130C, 550delA). Two different strategies to rescue these mutations are devised: (i) on the level of LGMD2A-iPSC, we combined CRISPR/Cas9 genome targeting with a FACS and Tet transactivator-based biallelic selection strategy, which resulted in a new functional chimeric exon 3-4 without the two CAPN3 mutations...
2023: Stem Cells International
https://read.qxmd.com/read/38007344/magnetic-resonance-imaging-based-criteria-to-differentiate-dysferlinopathy-from-other-genetic-muscle-diseases
#29
JOURNAL ARTICLE
Carla Bolano-Diaz, José Verdú-Díaz, Alejandro Gonzalez-Chamorro, Sam Fitzsimmons, Gopi Veeranki, Volker Straub, Jordi Diaz-Manera
The identification of disease-characteristic patterns of muscle fatty replacement in magnetic resonance imaging (MRI) is helpful for diagnosing neuromuscular diseases. In the Clinical Outcome Study of Dysferlinopathy, eight diagnostic rules were described based on MRI findings. Our aim is to confirm that they are useful to differentiate dysferlinopathy (DYSF) from other genetic muscle diseases (GMD). The rules were applied to 182 MRIs of dysferlinopathy patients and 1000 MRIs of patients with 10 other GMD. We calculated sensitivity (S), specificity (Sp), positive and negative predictive values (PPV/NPV) and accuracy (Ac) for each rule...
January 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/37974208/clinical-features-imaging-findings-and-molecular-data-of-limb-girdle-muscular-dystrophies-in-a-cohort-of-chinese-patients
#30
JOURNAL ARTICLE
Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-Ze Zheng, Liang-Liang Qiu, Zhi-Xian Ye, Hai-Zhu Chen, Min-Ting Lin, Ning Wang, Zhi-Qiang Wang
BACKGROUND: Limb-girdle muscular dystrophies (LGMDs) are a group of heterogeneous inherited diseases predominantly characterized by limb-girdle muscle weakness and dystrophic changes on histological analysis. The frequency of LGMD subtypes varies among regions in China and ethnic populations worldwide. Here, we analyzed the prevalence of LGMD subtypes, their corresponding clinical manifestations, and molecular data in a cohort of LGMD patients in Southeast China. METHODS: A total of 81 consecutive patients with clinically suspected LGMDs from 62 unrelated families across Southeast China were recruited for targeted next-generation sequencing and whole-exome sequencing from July 2017 to February 2020...
November 16, 2023: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/37970286/development-and-validation-of-an-outpatient-clinical-predictive-score-for-the-diagnosis-of-duchenne-muscular-dystrophy-becker-muscular-dystrophy-in-children-aged-2-18-years
#31
JOURNAL ARTICLE
Indar Kumar Sharawat, Aparna Ramachandran, Prateek Kumar Panda, Aman Elwadhi, Apurva Tomar
INTRODUCTION: There is no bedside clinical examination-based prediction score for Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in children with neuromuscular diseases (NMDs) presenting with proximal limb-girdle weakness. METHODS: We compared the details of 200 cases of lower motor neuron type of weakness and had some proximal limb-girdle muscle weakness and divided them into 2 groups: with/without a confirmed diagnosis of DMD/BMD. We determined the predictive factors associated with a diagnosis of DMD/BMD using multivariate binary logistic regression...
2023: Annals of Indian Academy of Neurology
https://read.qxmd.com/read/37968431/cognitive-abnormalities-in-becker-muscular-dystrophy-a-mysterious-link-between-dystrophin-deficiency-and-executive-functions
#32
JOURNAL ARTICLE
Laura Pezzoni, Roberta Brusa, Teresa Difonzo, Francesca Magri, Daniele Velardo, Stefania Corti, Giacomo Pietro Comi, Maria Cristina Saetti
BACKGROUND: Distrophinopathies are a heterogeneous group of neuromuscular disorders due to mutations in the DMD gene. Different isoforms of dystrophin are also expressed in the cerebral cortex and Purkinje cells. Despite cognitive abnormalities in Duchenne muscular dystrophy subjects that have been described in the literature, little is known about a comprehensive cognitive profile in Becker muscular dystrophy patients. AIM: The aim of this study was to assess cognitive functioning in Becker muscular dystrophy patients by using an extensive neuropsychological battery...
November 15, 2023: Neurological Sciences
https://read.qxmd.com/read/37964752/ryanodine-receptor-type-1-content-decrease-induced-endoplasmic-reticulum-stress-is-a-hallmark-of-myopathies
#33
JOURNAL ARTICLE
Jeremy Vidal, Eric A Fernandez, Martin Wohlwend, Pirkka-Pekka Laurila, Andrea Lopez-Mejia, Julien Ochala, Alexander J Lobrinus, Bengt Kayser, Isabel C Lopez-Mejia, Nicolas Place, Nadège Zanou
BACKGROUND: Decreased ryanodine receptor type 1 (RyR1) protein levels are a well-described feature of recessive RYR1-related myopathies. The aim of the present study was twofold: (1) to determine whether RyR1 content is also decreased in other myopathies and (2) to investigate the mechanisms by which decreased RyR1 protein triggers muscular disorders. METHODS: We used publicly available datasets, muscles from human inflammatory and mitochondrial myopathies, an inducible muscle-specific RYR1 recessive mouse model and RyR1 knockdown in C2C12 muscle cells to measure RyR1 content and endoplasmic reticulum (ER) stress markers...
November 15, 2023: Journal of Cachexia, Sarcopenia and Muscle
https://read.qxmd.com/read/37962193/patterns-of-clinical-progression-among-patients-with-autosomal-recessive-limb-girdle-muscular-dystrophy-a-systematic-review
#34
JOURNAL ARTICLE
Antoinette Cheung, Ivana F Audhya, Shelagh M Szabo, Michael Friesen, Conrad C Weihl, Katherine L Gooch
OBJECTIVES: As the clinical course of autosomal recessive limb-girdle muscular dystrophy (LGMDR) is highly variable, this study characterized the frequency of loss of ambulation (LOA) among patients by subtype (LGMDR1, LGMDR2, LGMDR3-6, LGMDR9, LGMDR12) and progression to cardiac and respiratory involvement among those with and without LOA. METHODS: Systematic literature review. RESULTS: From 2929 abstracts screened, 418 patients were identified with ambulatory status data (LOA: 265 [63...
December 1, 2023: Journal of Clinical Neuromuscular Disease
https://read.qxmd.com/read/37936913/machine-learning-based-radiomics-to-differentiate-immune-mediated-necrotizing-myopathy-from-limb-girdle-muscular-dystrophy-r2-using-mri
#35
JOURNAL ARTICLE
Ping Wei, Huahua Zhong, Qian Xie, Jin Li, Sushan Luo, Xueni Guan, Zonghui Liang, Dongyue Yue
OBJECTIVES: This study aimed to assess the feasibility of a machine learning-based radiomics tools to discriminate between Limb-girdle muscular dystrophy R2 (LGMDR2) and immune-mediated necrotizing myopathy (IMNM) using lower-limb muscle magnetic resonance imaging (MRI) examination. METHODS: After institutional review board approval, 30 patients with genetically proven LGMDR2 (12 females; age, 34.0 ± 11.3) and 45 patients with IMNM (28 females; age, 49...
2023: Frontiers in Neurology
https://read.qxmd.com/read/37929714/prognostic-utility-of-cardiovascular-magnetic-resonance-based-phenotyping-in-patients-with-muscular-dystrophy
#36
JOURNAL ARTICLE
Niharika Kashyap, Anish Nikhanj, Dina Labib, Easter Prosia, Sandra Rivest, Jacqueline Flewitt, Gerald Pfeffer, Jeffrey A Bakal, Zaeem A Siddiqi, Richard A Coulden, Richard Thompson, James A White, Gavin Y Oudit
Background The prognostic utility of cardiovascular magnetic resonance imaging, including strain analysis and tissue characterization, has not been comprehensively investigated in adult patients with muscular dystrophy. Methods and Results We prospectively enrolled 148 patients with dystrophinopathies (including heterozygotes), limb-girdle muscular dystrophy, and type 1 myotonic dystrophy (median age, 36.0 [interquartile range, 23.0-50.0] years; 51 [34.5%] women) over 7.7 years in addition to an age- and sex-matched healthy control cohort (n=50)...
November 6, 2023: Journal of the American Heart Association
https://read.qxmd.com/read/37927274/considering-the-promise-of-vamorolone-for-treating-duchenne-muscular-dystrophy
#37
JOURNAL ARTICLE
Miranda D Grounds, Erin M Lloyd
This commentary provides an independent consideration of data related to the drug vamorolone (VBP15) as an alternative steroid proposed for treatment of Duchenne muscular dystrophy (DMD). Glucocorticoids such as prednisone and deflazacort have powerful anti-inflammatory benefits and are the standard of care for DMD, but their long-term use can result in severe adverse side effects; thus, vamorolone was designed as a unique dissociative steroidal anti-inflammatory drug, to retain efficacy and minimise these adverse effects...
2023: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/37927270/health-related-quality-of-life-in-fkrp-related-limb-girdle-muscular-dystrophy-r9
#38
JOURNAL ARTICLE
Synnøve M Jensen, Oddgeir Friborg, Svein Ivar Mellgren, Kai Ivar Müller, Svein Bergvik, Kjell Arne Arntzen
BACKGROUND: Limb-girdle muscular dystrophy R9 (LGMDR9) is a chronic progressive hereditary muscle disease, related to the Fukutin Related Protein (FKRP) gene, that may cause major disabilities, cardiomyopathy, and ventilatory failure. Knowledge of how LGMDR9 affects health-related quality of life (HRQoL) is relevant in treatment and care. OBJECTIVE: To investigate HRQoL in the Norwegian LGMDR9 population over 14 months and relation to fatigue and sleep quality. METHODS: Participants (16+ years) of the Norwegian LGMDR9 cohort study completed two HRQoL measures, i...
October 31, 2023: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/37900180/novel-mutations-in-the-sgca-gene-in-unrelated-vietnamese-patients-with-limb-girdle-muscular-dystrophies-disease
#39
JOURNAL ARTICLE
Nam Chung Tran, Nguyen Thi Kim Lien, Thanh Dat Ta, Van Hung Nguyen, Huy Thinh Tran, Nguyen Van Tung, Nguyen Thi Xuan, Nguyen Huy Hoang, Van Khanh Tran
Background: Limb-girdle muscular dystrophy (LGMD) is a group of inherited neuromuscular disorders characterized by atrophy and weakness in the shoulders and hips. Over 30 subtypes have been described in five dominant (LGMD type 1 or LGMDD) and 27 recessive (LGMD type 2 or LGMDR). Each subtype involves a mutation in a single gene and has high heterogeneity in age of onset, expression, progression, and prognosis. In addition, the lack of understanding of the disease and the vague, nonspecific symptoms of LGMD subtypes make diagnosis difficult...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37887288/crispr-cas9-ko-cell-line-generation-and-development-of-a-cell-based-potency-assay-for-raav-fkrp-gene-therapy
#40
JOURNAL ARTICLE
Marine Geoffroy, Louna Pili, Valentina Buffa, Maëlle Caroff, Anne Bigot, Evelyne Gicquel, Grégory Rouby, Isabelle Richard, Romain Fragnoud
Limb-Girdle Muscular Dystrophy R9 (LGMDR9) is a dystroglycanopathy caused by Fukutin-related protein (FKRP) defects leading to the deficiency of α-DG glycosylation, essential to membrane integrity. Recombinant adeno-associated viral vector (rAAV) gene therapy offers great therapeutic promise for such neuromuscular disorders. Pre-clinical studies have paved the way for a phase 1/2 clinical trial aiming to evaluate the safety and efficacy of FKRP gene therapy in LGMDR9 patients. To demonstrate product activity, quality, and consistency throughout product and clinical development, regulatory authorities request several quality controls, including a potency assay aiming to demonstrate and quantify the intended biological effect of the gene therapy product...
October 12, 2023: Cells
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