“Amyopathic” MDA5-positive dermatomyositis with severe lung involvement presenting with net myositic morphological features - insights from an autopsy study
Dermatomyositis (DM) can be associated with antibodies against the helicase MDA5 (anti-melanoma differentiation-associated gene 5) [1]. The physiological role of the pattern recognition receptor MDA5 is the identification of viral RNA and subsequent induction of type I interferon signalling [2]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 3, 2024 Category: Neurology Authors: Benjamin Englert, Carsten Dittmayer, Hans-Hilmar Goebel, Udo Schneider, Marie-Therese Holzer, Akinori Uruha, Werner Stenzel Source Type: research
"Amyopathic" MDA5-positive dermatomyositis with severe lung involvement presenting with net myositic morphological features- Insights from an autopsy study
Dermatomyositis (DM) can be associated with antibodies against the helicase MDA5 (anti-melanoma differentiation-associated gene 5) [1]. The physiological role of the pattern recognition receptor MDA5 is the identification of viral RNA and subsequent induction of type I interferon signalling [2]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - February 3, 2024 Category: Neurology Authors: Benjamin Englert, Carsten Dittmayer, Hans-Hilmar Goebel, Udo Schneider, Marie-Therese Holzer, Akinori Uruha, Werner Stenzel Source Type: research
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Source: Neuromuscular Disorders - February 1, 2024 Category: Neurology Source Type: research
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Source: Neuromuscular Disorders - February 1, 2024 Category: Neurology Source Type: research
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Source: Neuromuscular Disorders - February 1, 2024 Category: Neurology Source Type: research
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Source: Neuromuscular Disorders - February 1, 2024 Category: Neurology Source Type: research
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Source: Neuromuscular Disorders - February 1, 2024 Category: Neurology Source Type: research
My trial and training journey in X-linked myotubular myopathy: mountains and valleys
In this Patients ’ Forum, a patient with XL-myotubular myopathy describes the tremendous effects he has reached by very dedicated physical training with his physical therapist. He was motivated to start training when included in the Unite-CNM trial at the onset of the COVID-19 pandemic. It illustrates the potentia l of physical training in congenital myopathies, the importance of intrinsic motivation, and the need to standardize physical training during clinical trials. His testimonial is followed by a commentary of the (pediatric) neurologists, physical therapist and rehabilitation specialist that were invol ved in the ...
Source: Neuromuscular Disorders - January 26, 2024 Category: Neurology Authors: J. van Tienen, C. van Geenen, N.B. Voet, L. Servais, N.C. Voermans Source Type: research
Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study
The dystrophin gene expresses at least eight isoforms of different sizes and tissue localization [1]. Some of these isoforms are known to have cerebral localization and several fronts of research are actively trying to map the distribution of dystrophin in different brain areas and its variations over time. Clinical research has also focused in recent years on the in-depth description of the characteristics of the neurocognitive profile in patients with dystrophinopathies [2,3]. It has long been reported that neuropsychological deficits may be present in dystrophinopathies, specifically non-progressive cognitive impairment...
Source: Neuromuscular Disorders - January 25, 2024 Category: Neurology Authors: 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 Source Type: research
Evolution of neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients in a longitudinal study
The dystrophin gene expresses at least eight isoforms of different sizes and tissue localization [1]. Some of these isoforms are known to have cerebral localization and several fronts of research are actively trying to map the distribution of dystrophin in different brain areas and its variations over time. Clinical research has also focused in recent years on the in-depth description of the characteristics of the neurocognitive profile in patients with dystrophinopathies [2,3]. It has long been reported that neuropsychological deficits may be present in dystrophinopathies, specifically non-progressive cognitive impairment...
Source: Neuromuscular Disorders - January 25, 2024 Category: Neurology Authors: 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 Tags: Research paper Source Type: research
Role of recovery of acetylcholine release in compromised neuromuscular junction function
Walking, breathing, and eating are examples of essential human activities that are enabled by repetitive skeletal muscle contractions under control of the nervous system. During contractions of increasing intensity, activation frequency is increased and more motor units are recruited in order of smallest to largest (known as the size principle) to produce enough force to enable movement. In functional movement, such as walking, the same motor units will be activated repeatedly, and each singular contraction require repeated excitations of skeletal muscle fibres within the motor unit. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 23, 2024 Category: Neurology Authors: Jeppe Blichfeldt Winther, Jeanette Jeppesen Morgen, Martin Skov, Martin Gruwier Broch-Lips, Ole B ækgaard Nielsen, Kristian Overgaard, Thomas Holm Pedersen Source Type: research
Role of recovery of acetylcholine release in compromised neuromuscular function
Walking, breathing, and eating are examples of essential human activities that are enabled by repetitive skeletal muscle contractions under control of the nervous system. During contractions of increasing intensity, activation frequency is increased and more motor units are recruited in order of smallest to largest (known as the size principle) to produce enough force to enable movement. In functional movement, such as walking, the same motor units will be activated repeatedly, and each singular contraction require repeated excitations of skeletal muscle fibres within the motor unit. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 23, 2024 Category: Neurology Authors: Jeppe Blichfeldt Winther, Jeanette Jeppesen Morgen, Martin Skov, Martin Gruwier Broch-Lips, Ole B ækgaard Nielsen, Kristian Overgaard, Thomas Holm Pedersen Tags: Research paper Source Type: research
Effect of Nusinersen Treatment on Quality of Life and Motor Function in Adult Patients with Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease characterized by degeneration of anterior horn cells in the spinal cord and motor nuclei in the lower brainstem nuclei. The most common forms of SMA are caused by deletions or mutations in survival motor neuron 1 (SMN1) on chromosome 5q13.2.1, resulting in insufficient production of the SMN protein [1]. In humans, two forms of the SMN gene are present on each allele: SMN1 and SMN2. The SMN2 gene differs from SMN1 in that it has a C>T substitution in exon 7 that interferes with RNA splicing in exon 7. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 19, 2024 Category: Neurology Authors: Nazan Şimşek Erdem, Gökçe Yağmur Güneş Gencer, Abir Alaamel, Hilmi Uysal Source Type: research
An Up-to-date Myopathologic Characterisation of Facioscapulohumeral Muscular Dystrophy Type 1 Muscle Biopsies shows Sarcolemmal Complement Membrane Attack Complex Deposits and Increased Skeletal Muscle Regeneration
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy in adults, with an estimated prevalence between 4-10 per 100.000 inhabitants [1,2]. FSHD typically manifests with facial, scapular and humeral muscle weakness, followed by distal lower extremity and hip girdle weakness. Muscle weakness is usually asymmetrical and slowly progressive [3]. Ninety-five percent of all FSHD patients have FSHD type 1 (FSHD1), which is inherited in an autosomal dominant trait and is characterised by the deletion of repeated elements in the D4Z4 macrosatellite region on chromosome 4q35 [3,4]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 13, 2024 Category: Neurology Authors: Lisanne Hubregtse, Karlijn Bouman, Ch éryane 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 Source Type: research
Gene therapy delivered micro-dystrophins co-localize with transgenic utrophin in dystrophic skeletal muscle fibers
Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle disease that affects 1 in 5000 boys worldwide [1,2]. DMD is caused by the absence of a functional dystrophin protein, resulting in structural instability of sarcolemma leading to contraction-induced damage in striated muscles. The cellular and functional consequences of dystrophin deficiency ultimately lead to death from respiratory and/or cardiac complications. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 11, 2024 Category: Neurology Authors: Swathy Krishna, Arden B. Piepho, Dana M. Lake, Laurel R. Cumby, Kaelyn K. Lortz, Jeovanna Lowe, Jeffrey S. Chamberlain, Jill A. Rafael-Fortney Source Type: research
