Paula R Clemens, Heather Gordish-Dressman, Gabriela Niizawa, Ksenija Gorni, Michela Guglieri, Anne M Connolly, Matthew Wicklund, Tulio Bertorini, Jean Mah, Mathula Thangarajh, Edward C Smith, Nancy L Kuntz, Craig M McDonald, Erik Henricson, S Upadhyayula, Barry Byrne, Georgios Manousakis, Amy Harper, Susan Iannaccone, Utkarsh J Dang
BACKGROUND: Becker muscular dystrophy is an X-linked, genetic disorder causing progressive degeneration of skeletal and cardiac muscle, with a widely variable phenotype. OBJECTIVE: A 3-year, longitudinal, prospective dataset contributed by patients with confirmed Becker muscular dystrophy was analyzed to characterize the natural history of this disorder. A better understanding of the natural history is crucial to rigorous therapeutic trials. METHODS: A cohort of 83 patients with Becker muscular dystrophy (5-75 years at baseline) were followed for up to 3 years with annual assessments...
November 17, 2023: Journal of Neuromuscular Diseases
Kim Phung, Nicola Crabtree, Anne M Connolly, Pat Furlong, Eric P Hoffman, Stefan A Jackowski, Soher Nagi Jayash, Alex Johnson, Khaldoun Koujok, Craig F Munns, Erik Niks, Frank Rauch, Rachel Schrader, Cathy Turner, Elizabeth Vroom, David R Weber, Brenda L Wong, Michela Guglieri, Leanne M Ward, Sze Choong Wong
No abstract text is available yet for this article.
November 16, 2023: Journal of Neuromuscular Diseases
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
BACKGROUND: 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. OBJECTIVE: 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. METHODS: This is a prospective observational study...
November 16, 2023: Journal of Neuromuscular Diseases
Georgia Stimpson, Deborah Ridout, Amy Wolfe, Evelin Milev, Emer O'Reilly, Adnan Manzur, Anna Sarkozy, Francesco Muntoni, Tim J Cole, Giovanni Baranello
UNLABELLED: Background Boys with Duchenne Muscular Dystrophy (DMD) display heterogeneous motor function trajectory in clinics, which represents a significant obstacle to monitoring. OBJECTIVE: In this paper, we present the UK centiles for the North Star Ambulatory Assessment (NSAA), the 10 m walk/run time (10MWR) and velocity (10MWRV), and the rise from floor time (RFF) and velocity (RFFV) created from a cohort of glucocorticoid treated DMD boys between the age of 5 and 16 years...
November 10, 2023: Journal of Neuromuscular Diseases
E Landfeldt, A Aleman, S Abner, R Zhang, C Werner, I Tomazos, H Lochmüller, R M Quinlivan
BACKGROUND: Despite advances in the medical management of the disease, respiratory involvement remains a significant source of morbidity and mortality in children and adults with Duchenne muscular dystrophy (DMD). OBJECTIVE: The objective of this systematic literature review was to synthesize and grade published evidence of factors associated with respiratory health and function in DMD. METHODS: We searched MEDLINE, Embase, and the Cochrane Library for records of studies published from January 1, 2000 (to ensure relevance to current care practices), up until and including December 31, 2022, reporting evidence of prognostic indicators and predictors of disease progression in DMD...
November 7, 2023: Journal of Neuromuscular Diseases
Pimchanok Kulsirichawaroj, Yanin Suksangkharn, Da Eun Nam, Theeraphong Pho-Iam, Chanin Limwongse, Ki Wha Chung, Oranee Sanmaneechai, Stephan L Zuchner, Byung-Ok Choi
BACKGROUND: Inherited peripheral neuropathy presents a diagnostic and therapeutic challenge due to its association with mutations in over 100 genes. This condition leads to long-term disability and poses a substantial healthcare burden on society. OBJECTIVE: This study aimed to investigate the distribution of genes and establish the genotype-phenotype correlations, focusing on pediatric-onset cases. METHODS: Exome sequencing and other analytical techniques were employed to identify pathogenic variants, including duplication analysis of the PMP22 gene...
November 2, 2023: Journal of Neuromuscular Diseases
A Henderson, G Harley, I Horrocks, S Joseph, J Dunne, K Pysden, T Mushtaq, S C Wong, A M Childs
No abstract text is available yet for this article.
October 31, 2023: Journal of Neuromuscular Diseases
Heike Kölbel, Marius Kopka, Laura Modler, Astrid Blaschek, Ulrike Schara-Schmidt, Katharina Vill, Oliver Schwartz, Wolfgang Müller-Felber
OBJECTIVE: Numerous studies have consistently found that reduced SMN protein expression does not severely affect cognitive function in SMA patients. However, the average intelligence quotient of SMA patients has ranged above to below average in different studies. The cognitive development of SMA patients identified through newborn screening remains largely unknown. METHODS: 40 of 47 eligible SMA patients (23 females/17 males) from 39 families identified through newborn screening between January 2018 and December 2020 underwent developmental testing using Bayley III (BSID) after the 2 years of age...
October 31, 2023: Journal of Neuromuscular Diseases
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
BACKGROUND: 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. OBJECTIVE: To investigate the longitudinal course of the FDP length during different disease stages focusing on symmetry, timing, and decline of the FDP length...
October 31, 2023: Journal of Neuromuscular Diseases
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
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...
October 27, 2023: Journal of Neuromuscular Diseases
Oscar Henry Mayer, Reshma Amin, Hemant Sawnani, Richard Shell, Sherri Lynne Katz
UNLABELLED: Chronic respiratory failure is a common endpoint in the loss of respiratory muscle function in patients with progressive neuromuscular disease (NMD). Identifying the onset of hypoventilation is critical to allow for the timely introduction of ventilator support and effectively manage respiratory failure [1-3]. While there are accepted criteria governing the diagnosis of hypoventilation during polysomnography (PSG) [4], there is concern that criteria are insufficient for identifying hypoventilation in the earlier stages of respiratory insufficiency related to NMD...
October 25, 2023: Journal of Neuromuscular Diseases
Amy E Campbell, Jamshid Arjomand, Oliver D King, Rabi Tawil, Sujatha Jagannathan
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy caused by misexpression of the double homeobox 4 (DUX4) embryonic transcription factor in skeletal muscle. Identifying quantitative and minimally invasive FSHD biomarkers to report on DUX4 activity will significantly accelerate therapeutic development. OBJECTIVE: The goal of this study was to analyze secreted proteins known to be induced by DUX4 using the commercially available Olink Proteomics platform in order to identify potential blood-based molecular FSHD biomarkers...
October 25, 2023: Journal of Neuromuscular Diseases
Karlijn Bouman, Jan T Groothuis, Jonne Doorduin, Nens van Alfen, Floris E A Udink Ten Cate, Frederik M A van den Heuvel, Robin Nijveldt, Erik-Jan Kamsteeg, Anne T M Dittrich, Jos M T Draaisma, Mirian C H Janssen, Baziel G M van Engelen, Corrie E Erasmus, Nicol C Voermans
BACKGROUND: SELENON(SEPN1)-related myopathy (SELENON-RM) is a rare congenital neuromuscular disease characterized by proximal and axial muscle weakness, spinal rigidity, scoliosis and respiratory impairment. No curative treatment options exist, but promising preclinical studies are ongoing. Currently, natural history data are lacking, while selection of appropriate clinical and functional outcome measures is needed to reach trial readiness. OBJECTIVE: We aim to identify all Dutch and Dutch-speaking Belgian SELENON-RM patients, deep clinical phenotyping, trial readiness and optimization of clinical care...
September 30, 2023: Journal of Neuromuscular Diseases
Elis Vanessa de Lima Silva, Karina Carvalho Donis, Fabiana Rita Camara Machado, Leonardo Simão Medeiros, Carlos Alberto de Moura Aschoff, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Jonas Alex Morales Saute
RYR1-related exertional myalgia/rhabdomyolysis (ERM) is an underrecognized condition, which can cause limiting muscle symptoms, and may account for more than one-third of undiagnosed rhabdomyolysis cases. Dantrolene has shown promising results in controlling muscle symptoms in individuals with ERM, however, its use in children remains poorly documented. This case report presents the successful treatment of a 5-year-old patient with ERM using oral dantrolene. The patient experienced notable improvements, including a reduction in the frequency and intensity of myalgia episodes, no hospitalizations due to rhabdomyolysis, a substantial decrease in creatine phosphokinase (CPK) levels, and enhanced performance on the 6-minute walk test...
September 28, 2023: Journal of Neuromuscular Diseases
Hannah Staunton, Sophie Cleanthous, Vanda Teodoro, Louise Barrett, Jessica Braid, Bethany Ewens, Stefan Cano, Giovanni Baranello, Janbernd Kirschner, Lisa Belter, Anna Mayhew
BACKGROUND: Limited qualitative data exist on the symptoms and impacts of spinal muscular atrophy (SMA) experienced by ambulant individuals. An ambulant module of the SMA Independence Scale (SMAIS) was developed to quantify the assistance required to perform everyday mobility-related activities. OBJECTIVE: The objective of this study was to develop a patient-centered module that provides key insights into what constitutes independence for ambulant and near-ambulant individuals with SMA...
September 21, 2023: Journal of Neuromuscular Diseases
Amira Aoussim, Cécilia Légaré, Marie-Pier Roussel, Anne-Marie Madore, Mathieu C Morissette, Catherine Laprise, Elise Duchesne
BACKGROUND: Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults. In DM1 patients, skeletal muscle is severely impaired, even atrophied and patients experience a progressive decrease in maximum strength. Strength training for these individuals can improve their muscle function and mass, however, the biological processes involved in these improvements remain unknown. OBJECTIVE: This exploratory study aims at identifying the proteomic biomarkers and variables associated with the muscle proteome changes induced by training in DM1 individuals...
September 5, 2023: Journal of Neuromuscular Diseases
Katlyn E McGrattan, Richard D Shell, Rebecca Hurst-Davis, Sally Dunaway Young, Eamonn O'Brien, Arseniy Lavrov, Shiri Wallach, Nicole LaMarca, Sandra P Reyna, Basil T Darras
No abstract text is available yet for this article.
August 29, 2023: Journal of Neuromuscular Diseases
Emily P McCann, Natalie Grima, Jennifer A Fifita, Sandrine Chan Moi Fat, Klaus Lehnert, Lyndal Henden, Ian P Blair, Kelly L Williams
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with genetic and phenotypic heterogeneity. Pathogenic genetic variants remain the only validated cause of disease, the majority of which were discovered in familial ALS patients. While causal gene variants are a lesser contributor to sporadic ALS, an increasing number of risk alleles (low penetrance genetic variants associated with a small increase in disease risk) and variants of uncertain significance have been reported...
August 25, 2023: Journal of Neuromuscular Diseases
Valeria Di Leo, Conor Lawless, Marie-Pier Roussel, Tiago B Gomes, Gráinne S Gorman, Oliver M Russell, Helen A L Tuppen, Elise Duchesne, Amy E Vincent
BACKGROUND: Myotonic dystrophy type 1 (DM1) is a dominant autosomal neuromuscular disorder caused by the inheritance of a CTG triplet repeat expansion in the Dystrophia Myotonica Protein Kinase (DMPK) gene. At present, no cure currently exists for DM1 disease. OBJECTIVE: This study investigates the effects of 12-week resistance exercise training on mitochondrial oxidative phosphorylation in skeletal muscle in a cohort of DM1 patients (n = 11, men) in comparison to control muscle with normal oxidative phosphorylation...
August 25, 2023: Journal of Neuromuscular Diseases
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