journal
https://read.qxmd.com/read/39299818/upper-limb-function-changes-over-12-months-in-untreated-sma-ii-and-iii-individuals-an-item-level-analysis-using-the-revised-upper-limb-module
#1
JOURNAL ARTICLE
Giorgia Coratti, Matthew Civitello, Annemarie Rohwer, Emilio Albamonte, Jacqueline Montes, Allan M Glanzman, Amy Pasternak, Roberto De Sanctis, Sally Dunaway Young, Tina Duong, Irene Mizzoni, Evelin Milev, Maria Sframeli, Simone Morando, Adele D'Amico, Michela Catteruccia, Noemi Brolatti, Marika Pane, Mariacristina Scoto, Sonia Messina, Michio Hirano, Zarazuela Zolkipli-Cunningham, Basil T Darras, Enrico Bertini, Claudio Bruno, Valeria A Sansone, Francesca Salmin, John Day, Giovanni Baranello, Maria Carmela Pera, Francesco Muntoni, Richard S Finkel, Eugenio Mercuri
The Revised upper limb module (RULM) has been increasingly used in clinical trials and in clinical settings. The aim of this study was to use the 'shift analysis' to assess the patterns of lost or gained abilities for each item on the RULM in an untreated cohort, stratified by SMA type, age, SMN2 copy number, and motor functional status. The analysis was performed on 222 12-month paired assessments from 129 individuals (115 assessment from type II and 107 from type III) who had at least two assessments at yearly intervals...
August 28, 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/39256100/26-th-meryon-lecture-st-anne-s-college-oxford-5th-july-2024-fshd-the-long-road-to-dux4
#2
JOURNAL ARTICLE
George W Padberg
This Meryon lecture aims to document the history of the discovery of the gene for Facioscapulohumeral Disease.
August 23, 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/39178649/performance-of-upper-limb-entry-item-to-predict-forced-vital-capacity-in-dysferlin-deficient-limb-girdle-muscular-dystrophy
#3
JOURNAL ARTICLE
Holly Borland, Ursula Moore, Heather Gordish Dressman, Anri Human, Anna G Mayhew, Heather Hilsden, Laura E Rufibach, Tina Duong, Elke Maron, Brittney DeWolf, Kristy Rose, Catherine Siener, Simone Thiele, Nieves Sanchez-Aguilera Práxedes, Aurélie Canal, Scott Holsten, Chikako Sakamoto, Irene Pedrosa-Hernández, Luca Bello, Lindsay N Alfano, Linda Pax Lowes, Meredith K James, Volker Straub
Dysferlin-deficient limb girdle muscular dystrophy (LGMD R2), also referred to as dysferlinopathy, can be associated with respiratory muscle weakness as the disease progresses. Clinical practice guidelines recommend biennial lung function assessments in patients with dysferlinopathy to screen for respiratory impairment. However, lack of universal access to spirometry equipment and trained specialists makes regular monitoring challenging. This study investigated the use of the Performance of Upper Limb (PUL) clinical scale entry item as a low-cost screening tool to identify patients with dysferlinopathy at risk of respiratory impairment...
August 14, 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/39180840/a-cross-sectional-study-in-18-patients-with-typical-and-mild-forms-of-nemaline-myopathy-in-the-netherlands
#4
JOURNAL ARTICLE
Esmee S B van Kleef, Sanne A J H van de Camp, Jan T Groothuis, Corrie E Erasmus, Michael A Gaytant, Bettine A H Vosse, Willemien de Weerd, Corien C Verschuuren-Bemelmans, Evita G Medici-Van den Herik, Carina Wallgren-Pettersson, Benno Küsters, Meyke Schouten, Baziel G M van Engelen, Coen A C Ottenheijm, Jonne Doorduin, Nicol C Voermans
Nemaline myopathy (NM) is a congenital myopathy with generalised muscle weakness, most pronounced in neck flexor, bulbar and respiratory muscles. The aim of this cross-sectional study was to assess the Dutch NM patient cohort. We assessed medical history, physical examination, quality of life (QoL), fatigue severity, motor function (MFM), and respiratory muscle function. We included 18 of the 28 identified patients (13 females (11-67 years old); five males (31-74 years old)) with typical or mild NM and eight different genotypes...
August 3, 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/39142003/defining-the-landscape-of-tia1-and-sqstm1-digenic-myopathy
#5
JOURNAL ARTICLE
Paula Panos-Basterra, Julian Theuriet, Aleksandra Nadaj-Pakleza, Armelle Magot, Beatrice Lannes, Pascale Marcorelles, Anthony Behin, Marion Masingue, Florence Caillon, Yannis Malek, Tanguy Fenouil, Joaquim Bas, Rita Menassa, Laurence Michel-Calemard, Nathalie Streichenberger, Jean-Philippe Simon, Francoise Bouhour, Teresinha Evangelista, Corinne Métay, Antoine Pegat, Tanya Stojkovic, Gorka Fernández-Eulate
TIA1/SQSTM1 myopathy is one of the few digenic myopathies. We describe four new French adult male patients carrying the TIA1 p.Asn357Ser and SQSTM1 p.Pro392Leu variant and review the literature to include 20 additional cases to define the spectrum of the disease. These twenty-four patients (75% males) had late-onset (52,6 ± 10,1 years), mainly asymmetric, distal ankle and hand finger extension weakness (75%), mild CK elevation (82.4%) and myopathic EMG. Two of the four French patients had sensorimotor axonal polyneuropathy and an additional one had neurogenic changes in muscle biopsy...
July 24, 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/39116821/population-based-incidence-rates-of-15-neuromuscular-disorders-a-nationwide-capture-recapture-study-in-the-netherlands
#6
JOURNAL ARTICLE
Johanna C W Deenen, Corinne G C Horlings, Nicol C Voermans, Pieter A van Doorn, Catharina G Faber, Anneke J van der Kooi, Jan B M Kuks, Nicolette C Notermans, Leo H Visser, Ria H A Broekgaarden, Anja M C Horemans, Jan J G M Verschuuren, André L M Verbeek, Baziel G M van Engelen
Most neuromuscular disorders are rare, but as a group they are not. Nevertheless, epidemiological data of specific neuromuscular disorders are scarce, especially on the incidence. We applied a capture-recapture approach to a nationwide hospital-based dataset and a patients association-based dataset to estimate the annual incidence rates for fifteen neuromuscular disorders in the Netherlands. The annual incidence rates per 100,000 population varied from 0.03/100,000 (95% CI 0.00 ‒ 0.06) for glycogenosis type 5 to 0...
July 16, 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/39216342/comprehensive-four-year-disease-progression-assessment-of-myotonic-dystrophy-type-1
#7
JOURNAL ARTICLE
Leandre A la Fontaine, Johanna E Bruijnes, Fran Hp Smulders, Carla Gorissen-Brouwers, Ilse Ea Karnebeek, Hilde Mh Braakman, Sylvia Klinkenberg, Karlien Mul, Peter-Bram Ac 't Hoen, Sander Mj van Kuijk, Baziel Gm van Engelen, Ingemar Sj Merkies, Catharina G Faber
Myotonic dystrophy type 1 (DM1) is a heterogeneous neuromuscular disorder characterized by progressive muscle weakness and myotonia. This study investigates the progression of muscular strength and function over a four-year period. Patients with DM1 were examined at baseline and four years later. The following metrics were assessed over time: muscle strength (Medical Research Council-sumscore), hand-grip strength (Martin-Vigorimeter), hand-grip relaxation time (myotonia), and limitations in activities of daily living and (DM1ActivC questionnaire)...
October 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/39190980/ocular-versus-generalized-myasthenia-gravis-a-continuum-associated-with-acetylcholine-receptor-antibody-titers
#8
JOURNAL ARTICLE
Kasper Holst Axelsen, Rebecca Kjær Andersen, Linda Kahr Andersen, John Vissing, Nanna Witting
The aim of this study was to evaluate clinical and serological differences between the ocular myasthenia gravis (oMG) and generalized MG (gMG). This study is a retrospective chart review, in which data was collected from patients fulfilling 2 of 3 diagnostic MG criteria (positive antibodies, evidence of neuromuscular transmission defect on neurophysiological examination, positive effect of pyridostigmine treatment). 350 patients were included and data concerning demographics and MG medical history were collected...
October 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/39173541/niacin-supplementation-in-a-child-with-novel-mttn-variant-m-5670a-g-causing-early-onset-mitochondrial-myopathy-and-nad-deficiency
#9
JOURNAL ARTICLE
Juho Aaltio, Liliya Euro, Olli Tynninen, Hieu S Vu, Min Ni, Ralph J DeBerardinis, Anu Suomalainen, Pirjo Isohanni
Myopathy is a common manifestation in mitochondrial disorders, but the pathomechanisms are still insufficiently studied in children. Here, we report a severe, progressive mitochondrial myopathy in a four-year-old child, who died at eight years. He developed progressive loss of muscle strength with nocturnal hypoventilation and dilated cardiomyopathy. Skeletal muscle showed ragged red fibers and severe combined respiratory chain deficiency. Mitochondrial DNA sequencing revealed a novel m.5670A>G mutation in mitochondrial tRNAAsn (MTTN) with 88 % heteroplasmy in muscle...
October 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/39173540/274th-enmc-international-workshop-recommendations-for-optimizing-bone-strength-in-neuromuscular-disorders-hoofddorp-the-netherlands-19-21-january-2024
#10
JOURNAL ARTICLE
Nicol C Voermans, Anne T M Dittrich, Sara Liguori, Chiara Panicucci, Antimo Moretti, David R Weber, Leanne M Ward
The 274th ENMC workshop for optimizing bone strength in neuromuscular disorders (NMDs) was held on January 19-21, 2024. The group of participants included experts in the fields of bone health and neuromuscular medicine along with the patient voice. Bone strength represents a crucial aspect of the management of pediatric and adult patients with NMDs. Bone strength may be compromised due to different pathophysiologic mechanisms, including disrupted bone-muscle "cross-talk", loss of biomechanical loading, nutritional insufficiency, inadequate weight-bearing physical activity, muscle weakness and/or immobility, and drug treatment...
October 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/39111255/risk-benefit-profile-of-onasemnogene-abeparvovec-in-older-and-heavier-children-with-spinal-muscular-atrophy-type-1
#11
JOURNAL ARTICLE
Rebecca Finnegan, Adnan Manzur, Pinki Munot, Anil Dhawan, Archana Murugan, Anirban Majumdar, Elizabeth Wraige, Vasantha Gowda, Maria Vanegas, Marion Main, Emer O'Reilly, Giovanni Baranello, Francesco Muntoni, Mariacristina Scoto
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with progressive muscle atrophy and weakness, caused by biallelic mutations in the survival motor neuron 1 (SNM1) gene. Onasemnogene abeparvovec (OA) is an approved gene replacement therapy for patients with SMA. We report on two patients with SMA type 1, weighing 20 kg, previously treated with Nusinersen, who received OA infusion at 7 years of age. To our knowledge, these two patients are the heaviest treated in the real-world and we describe their different courses after gene therapy, including liver impairment requiring long-term steroid treatment and additional immunosuppression, with only transitory improvement in functional outcomes...
September 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38981343/ophthalmoparesis-as-an-unusual-manifestation-of-anti-3%C3%A2-hydroxy-3-methyl-glutaryl-coenzyme-a-reductase-antibody-associated-myopathies
#12
JOURNAL ARTICLE
Brendan Putko, Alan Pestronk, Gregory P Van Stavern, Cecile L Phan, Grayson Beecher, Teerin Liewluck
We describe two anti-3‑hydroxy-3-methyl-glutaryl-coenzyme A reductase (HMGCR) antibody-positive patients with treatment-responsive ophthalmoparesis. Patient 1 was a 53-year-old male with progressive proximal limb weakness, dysphagia, ptosis, and diplopia over 6 weeks and creatine kinase (CK) of 3,512 units/L. Patient 2 was a 55-year-old female with progressive proximal weakness, dysarthria, ptosis, diplopia, and dyspnea over 2 weeks with CK of 31,998 units/L. Both patients had normal thyroid studies and repetitive nerve stimulation, myopathic electromyography with fibrillation potentials, magnetic resonance imaging demonstrating abnormal enhancement of extraocular muscles, muscle biopsy showing necrotic myofibers, and positive anti-HMGCR antibodies...
September 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38936290/changes-in-abilities-over-the-initial-12-months-of-nusinersen-treatment-for-type-ii-sma
#13
JOURNAL ARTICLE
Giorgia Coratti, Matthew Civitello, Annemarie Rohwer, Francesca Salmin, Allan M Glanzman, Jaqueline Montes, Amy Pasternak, Roberto De Sanctis, Sally Dunaway Young, Tina Duong, Irene Mizzoni, Evelin Milev, Maria Sframeli, Simone Morando, Emilio Albamonte, Adele D'Amico, Noemi Brolatti, Marika Pane, Mariacristina Scoto, Sonia Messina, Michio Hirano, Zarazuela Zolkipli-Cunningham, Basil T Darras, Enrico Bertini, Claudio Bruno, Valeria A Sansone, John Day, Giovanni Baranello, Maria Carmela Pera, Francesco Muntoni, Richard Finkel, Eugenio Mercuri
Several studies have shown the efficacy of new disease-modifying therapies in slowing down type II SMA progression using the Hammersmith Functional Motor Scale Expanded (HFMSE). This research aims to enhance understanding of activity changes across age groups post-nusinersen treatment using shift analysis, compared with untreated individuals. Retrospective data from the, international SMA consortium (iSMAc) dataset were analyzed, assessing individual item changes over 12 months. Shift analysis was used to determine the gain or loss of abilities, defining "gain" as a positive change between scores from 0 to either 1 or 2 and "loss" as a negative change from either 2 or 1 to 0...
August 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38925009/rapidly-progressive-myopathy-unveiling-light-chain-amyloidosis-as-an-initial-manifestation-of-multiple-myeloma-a-case-report-and-literature-review
#14
REVIEW
P Kaminskiene, T Stojkovic, D Roos-Weil, P Reimbold, A Chanut, E Lacene, T Evangelista
We present the case of a 79-year-old man with rapidly progressive myopathy as the initial manifestation of light chain amyloidosis associated with multiple myeloma. The patient experienced progressive lower limb weakness resulting in difficulty climbing stairs. Ancillary tests revealed slightly elevated serum creatine kinase levels. The electromyogram revealed a diffuse myogenic pattern while muscle MRI indicated fatty replacement of the quadriceps muscles. Muscle biopsy revealed the presence of amyloid deposits in the vessel walls...
August 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38889624/statins-in-hereditary-myopathies-to-give-or-not-to-give
#15
REVIEW
Zohar Argov
Hyperlipidemia is not uncommon in patients with hereditary myopathies who get older and also in several conditions in which it is frequently observed. Thus, using the common cholesterol reducing medications of the stains group could be considered. However, the side effects of these drugs include myalgia, myopathy and rhabdomyolysis typically associated with high serum creatine kinase (CK). Because high CK levels are very frequently found in hereditary myopathies, physicians are reluctant to use statins in such patients...
August 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38861761/exploring-functional-strength-changes-during-nusinersen-treatment-in-symptomatic-children-with-sma-types-2-and-3
#16
JOURNAL ARTICLE
Danny R van der Woude, Renske I Wadman, Fay-Lynn Asselman, Marja A G C Schoenmakers, Inge Cuppen, W Ludo van der Pol, Bart Bartels
The Hammersmith Functional Motor Scale-Expanded (HFMSE) is a validated outcome measure for monitoring changes in functional strength in patients with spinal muscular atrophy (SMA). The objective of this study was to explore changes in HFMSE item-scores in children with SMA types 2 and 3a treated with nusinersen over a period of six to twenty months. We stratified patients according to motor ability (sitting and walking), and calculated numbers and percentages for each specific improvement (positive score change) or decrease (negative score change) for the total group and each subgroup and calculated frequency distributions of specific score changes...
August 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/39121631/three-novel-missense-variants-in-two-families-with-jag2-associated-limb-girdle-muscular-dystrophy
#17
JOURNAL ARTICLE
Lein Dofash, Krishnan Lyengar, Nolette Pereira, Jevin Parmar, Chiara Folland, Nigel Laing, Peter B Kang, Anita Cairns, Matthew Lynch, Mark Davis, Gianina Ravenscroft
Limb-girdle muscular dystrophy recessive 27 is associated with biallelic variants in JAG2, encoding the JAG2 notch ligand. Twenty-four affected individuals from multiple families have been described in two reports. We present two Australian families with three novel JAG2 missense variants: (c.1021G>T, p.(Gly341Cys)) homozygous in two siblings of Pakistani origin, and compound heterozygous variants (c.703T>C, p.(Trp235Arg); c.2350C>T, p.(Arg784Cys)) in a proband of European ancestry. Patients presented with childhood-onset limb-girdle-like myopathy with difficulty or inability walking...
July 6, 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/39059056/improving-heckmatt-muscle-ultrasound-grading-scale-through-rasch-analysis
#18
JOURNAL ARTICLE
Juerd Wijntjes, Christiaan Saris, Jonne Doorduin, Nens van Alfen, Baziel van Engelen, Karlien Mul
The 4-point Heckmatt grading scale can easily be used to analyze muscle ultrasound images. The scale is used in an expanding set of muscles and neuromuscular disorders. This prompted the need for evaluation of the measurement properties of the scale in its current form. In this retrospective observational study we included muscle ultrasound images from patients who were undergoing an ultrasound exam for either clinical or research purposes. The primary outcome of this study was to investigate and improve the measurement properties of the Heckmatt scale using Rasch analysis...
July 2, 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38824906/resistance-training-in-women-with-myotonic-dystrophy-type-1-a-multisystemic-therapeutic-avenue
#19
JOURNAL ARTICLE
Laura Girard-Côté, Benjamin Gallais, Cynthia Gagnon, Marie-Pier Roussel, Marika Morin, Luc J Hébert, Darren Monckton, Jean-Philippe Leduc-Gaudet, Gilles Gouspillou, Vincent Marcangeli, Elise Duchesne
Myotonic dystrophy type 1 (DM1) is a hereditary disease characterized by muscular impairments. Fundamental and clinical positive effects of strength training have been reported in men with DM1, but its impact on women remains unknown. We evaluated the effects of a 12-week supervised strength training on physical and neuropsychiatric health. Women with DM1 performed a twice-weekly supervised resistance training program (3 series of 6-8 repetitions of squat, leg press, plantar flexion, knee extension, and hip abduction)...
July 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38823288/severe-gastrointestinal-problems-in-duchenne-muscular-dystrophy-a-case-series
#20
JOURNAL ARTICLE
A M Blokhuis, Kmaj Tytgat, J T Groothuis, Sls Houwen-van Opstal
Due to improved supportive care, survival of patients with Duchenne muscular dystrophy (DMD) has increased significantly. Consequently, new challenges emerge in adult patients with DMD. In clinical practice we increasingly see patients with serious, even life-threatening, gastrointestinal (GI) problems in advanced disease stages. Little is known about the longitudinal course of GI problems and the appropriate management. We present a case-series of six adult patients with DMD with (recurrent) GI problems that required hospital admission...
July 2024: Neuromuscular Disorders: NMD
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