James B Lilleker, Elie Naddaf, Christiaan G J Saris, Jens Schmidt, Marianne de Visser, Conrad C Weihl
Since the publication of the 2013 European Neuromuscular Center (ENMC) diagnostic criteria for Inclusion Body Myositis (IBM), several advances have been made regarding IBM epidemiology, pathogenesis, diagnostic tools, and clinical trial readiness. Novel diagnostic tools include muscle imaging techniques such as MRI and ultrasound, and serological testing for cytosolic 5'-nucleotidase-1A antibodies. The 272nd ENMC workshop aimed to develop new diagnostic criteria, discuss clinical outcome measures and clinical trial readiness...
March 7, 2024: Neuromuscular Disorders: NMD
Nicholas C Cottam, Melissa A Harrington, Pamela M Schork, Jianli Sun
Spinal muscular atrophy (SMA) is an autosomal recessive disease that affects 1 out of every 6,000-10,000 individuals at birth, making it the leading genetic cause of infant mortality. In recent years, reports of sex differences in SMA patients have become noticeable. The SMNΔ7 mouse model is commonly used to investigate pathologies and treatments in SMA. However, studies on sex as a contributing biological variable are few and dated. Here, we rigorously investigated the effect of sex on a series of characteristics in SMA mice of the SMNΔ7 model...
March 5, 2024: Neuromuscular Disorders: NMD
Sheila Hawkins
This paper explores how people with limited mobility choose and buy clothes, and how this could be improved, both for them and for retailers. It reports on an online survey carried out May-September 2023, asking people with limited mobility about their experiences, shows the practical difficulties they encounter and makes recommendations for retailers to improve their offer and reach to this group of consumers.
February 29, 2024: Neuromuscular Disorders: NMD
Jeppe Blichfeldt Winther, Jeanette Jeppesen Morgen, Martin Skov, Martin Gruwier Broch-Lips, Ole Bækgaard Nielsen, Kristian Overgaard, Thomas Holm Pedersen
Everyday physical activities, such as walking, are enabled by repeated skeletal muscle contractions and require a well-functioning neuromuscular transmission. In myasthenic disorders, activities of daily living are debilitated by a compromised neuromuscular transmission leading to muscle weakness and fatiguability in patients. To enable physical activity, acetylcholine (ACh) is released repeatedly from the motor nerve, however, the role of the nerve terminals' capacity to sustain ACh release to support repetitive contractions under compromised neuromuscular transmission remains unclear...
March 2024: Neuromuscular Disorders: NMD
Benjamin Englert, Carsten Dittmayer, Hans-Hilmar Goebel, Udo Schneider, Marie-Therese Holzer, Akinori Uruha, Werner Stenzel
Anti-MDA5-positive dermatomyositis (MDA5-DM) often presents with extramuscular, especially pulmonary and skin manifestations, and apparent clinical signs of frank myositis can be missing (so called amyopathic DM). We hereby present two male patients who died from respiratory failure during the course of MDA5-DM. While overt signs of myositis or any skin involvement were absent at admission to hospital we noticed conspicuous inflammatory alterations in various skeletal muscles morphologically, showing different degrees of affection...
March 2024: Neuromuscular Disorders: NMD
Willem De Ridder, Laurens Van Herck, Gert Cypers, Isabelle Ravelingien, Jonathan Baets
Contracturing granulomatous myositis is a rare myopathy in which patients present with flexion contractures of the upper limbs in addition to slowly progressive muscle weakness and pain. Whether it represents a distinct nosological entity remains a point of discussion. We present a patient with isolated granulomatous disease of the muscle that responded very well to intravenous immunoglobulins after treatment failure of corticosteroids and methotrexate.
March 2024: Neuromuscular Disorders: NMD
Francesca Cumbo, Michele Tosi, Michela Catteruccia, Daria Diodato, Francesco Nicita, Irene Mizzoni, Giacomo De Luca, Adelina Carlesi, Paolo Alfieri, Stefano Vicari, Enrico Silvio Bertini, Adele D'Amico
It has long been reported that neuropsychological deficits may be present in dystrophinopathies, specifically non-progressive cognitive impairment and a global deficit in executive functions; this neurocognitive profile has been less explored in patients with Becker than Duchenne muscular dystrophy (BMD/DMD). We conducted a longitudinal study to explore the evolution of neuropsychological and behavioural profile in a cohort of paediatric BMD. Seventeen patients with BMD without intellectual disability were assessed using a full battery of tests, including intellectual, adaptive and executive functioning, language and behavioral features...
March 2024: Neuromuscular Disorders: NMD
Nazan Şimşek Erdem, Gökçe Yağmur Güneş Gencer, Abir Alaamel, Hilmi Uysal
The aim of this study was to assess the effect of 4 loading doses of nusinersen on motor function and quality of life (QoL) in adult patients with spinal muscular atrophy (SMA). Twenty-one adult patients with genetically confirmed SMA who were treated with 4 loading doses of nusinersen were included in this study. All patients were evaluated with the Medical Research Council (MRC) scale, the Hammersmith Functional Motor Scale Expanded (HFMSE), and the Short Form Survey-36 (SF-36) at baseline (V1) and before the first nusinersen maintenance treatment, which was at the 15th month of treatment (V2)...
March 2024: Neuromuscular Disorders: NMD
Lisanne Hubregtse, Karlijn Bouman, Chéryane Lama, Saskia Lassche, Nicolas de Graaf, Valentina Taglietti, Benno Küsters, Baptiste Periou, Frédéric Relaix, Baziel van Engelen, François-Jerôme Authier, Nicol C Voermans, Edoardo Malfatti
The aim of this study was to identify key routinely used myopathologic biomarkers of FSHD1. Needle muscle biopsies were taken in 34 affected muscles (m. quadriceps femoris (QF), n = 20, m. tibialis anterior (TA), n = 13, m. biceps brachii, n = 1) from 22 patients (age, 53.5 (10) years; M = 12, F = 10). Eleven patients had more than one biopsy (2xQF, n = 1; QF+TA, n = 9; 2xQF+TA, n = 1). Histochemistry, immunoperoxidase, and immunofluorescence stainings were performed and compared to age and muscle type matched muscle specimens of 11 healthy controls...
March 2024: Neuromuscular Disorders: NMD
Hubert Smeets, Bram Verbrugge, Xavier Bulbena, Liliya Hristova, Julia Vogt, Isabelle van Beckhoven
The European Joint Programme on Rare Diseases (EJPRD) funded the workshop "LAMA2-Muscular Dystrophy: Paving the road to therapy", bringing together 40 health-care professionals, researchers, patient-advocacy groups, Early-Career Scientists and other stakeholders from 14 countries. Progress in natural history, pathophysiology, trial readiness, and treatment strategies was discussed together with efforts to increase patient-awareness and strengthen collaborations. Key outcomes were (a) ongoing natural history studies in 7 countries already covered more than 350 patients...
March 2024: Neuromuscular Disorders: NMD
Swathy Krishna, Arden B Piepho, Dana M Lake, Laurel R Cumby, Kaelyn K Lortz, Jeovanna Lowe, Jeffrey S Chamberlain, Jill A Rafael-Fortney
Duchenne muscular dystrophy (DMD) is a devastating muscle disease caused by the absence of functional dystrophin. There are multiple ongoing clinical trials for DMD that are testing gene therapy treatments consisting of adeno-associated viral (AAV) vectors carrying miniaturized versions of dystrophin optimized for function, termed micro-dystrophins (μDys). Utrophin, the fetal homolog of dystrophin, has repeatedly been reported to be upregulated in human DMD muscle as a compensatory mechanism, but whether µDys displaces full-length utrophin is unknown...
March 2024: Neuromuscular Disorders: NMD
Ethan Williams, Ian Cooper, Kelly Beer, Kathryn Hird, Vinicius Cavalheri, Kathryn Watson, Merrilee Needham
Inclusion Body Myositis is the most common acquired myositis in adults, predominantly weakening forearm flexor and knee extensor muscles. Subclinical respiratory muscle weakness has recently been recognised in people with Inclusion Body Myositis, increasing their risk of respiratory complications. Inspiratory muscle training, a technique which demonstrates efficacy and safety in improving respiratory function in people with neuromuscular disorders, has never been explored in those with Inclusion Body Myositis...
February 22, 2024: Neuromuscular Disorders: NMD
Alessia Perna, Luca Bosco, Fabiana Fattori, Eleonora Torchia, Anna Modoni, Manuela Papacci, Antonio Petrucci, Giorgio Tasca, Enzo Ricci, Enrico Silvio Bertini, Gabriella Silvestri
This report describes a novel TTN -related phenotype in two brothers, both affected by a childhood onset, very slowly progressive myopathy with cores, associated with dilated cardiomyopathy only in their late disease stages. Clinical exome sequencing documented in both siblings the heterozygous c.2089A>T and c.19426+2T>A variants in TTN. The c.2089A>T, classified in ClinVar as possibly pathogenic, introduces a premature stop codon in exon 14, whereas the c.19426+2T>A affects TTN alternative splicing...
February 8, 2024: Neuromuscular Disorders: NMD
S Herdewyn, J De Bleecker, L Janssens, S Symoens, M Milazzo, J De Puydt
No abstract text is available yet for this article.
February 2024: Neuromuscular Disorders: NMD
Renata Siciliani Scalco, Jasper M Morrow, Andreea Manole, Iwona Skorupinska, Federico Ricciardi, Emma Matthews, Michael G Hanna, Doreen Fialho
The aim of this study was to establish whether bumetanide can abort an acute attack of weakness in patients with HypoPP. This was a randomised, double-blind, cross-over, placebo-controlled phase II clinical trial. Focal attack of weakness was induced by isometric exercise of ADM followed by rest (McManis protocol). Participants had two study visits and received either placebo or 2 mg bumetanide at attack onset (defined as 40 % decrement in the abductor digiti minimi CMAP amplitude from peak). CMAP measurements assessed attack severity and duration...
February 2024: Neuromuscular Disorders: NMD
Hans H Goebel, Werner Stenzel
No abstract text is available yet for this article.
February 2024: Neuromuscular Disorders: NMD
Hamed Shahriyari, Mahtab Ramezani, Yalda Nilipour, Ali Asghar Okhovat, Ariana Kariminejad, Leila Aghaghazvini, Farzad Fatehi, Shahriar Nafissi
The rare disorder known as Neutral Lipid Storage Disease with Myopathy presents with a variety of clinical manifestations, including myopathy, cardiac dysfunction, and other organ complications. Early diagnosis is crucial due to the increased risk of cardiomyopathy. We describe the clinical, histopathological, muscle imaging, and genetic findings of nine neutral lipid storage myopathy patients. Proximal weakness and asymmetric involvement may suggest lipid storage myopathy. While skeletal muscle weakness was the main manifestation in our patients, one case presented only with hyperCKemia...
February 2024: Neuromuscular Disorders: NMD
Jamshid Arjomand, Davide Gabellini, Nicol Voermans
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited muscular dystrophies. As part of the FSHD Society's commitment to promote global communication and collaboration among researchers, the Society collaborated with FSHD Europe and convened its 30th annual International Research Congress (IRC) on June 15-16, 2023, in the city of Milan, Italy. Over 240 researchers, clinicians, patients and pharmaceutical company representatives from a wide geographical background participated to hear about the latest developments and breakthroughs in the field...
February 2024: Neuromuscular Disorders: NMD
J Van Tienen, C van Geenen, N B Voet, L Servais, N C Voermans
No abstract text is available yet for this article.
January 26, 2024: Neuromuscular Disorders: NMD
Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
No abstract text is available yet for this article.
January 2024: Neuromuscular Disorders: NMD
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