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Source: Neuromuscular Disorders
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Total 1514 results found since Jan 2013.
Cancer-associated regional ischemic myopathy: a rare myopathy
Paraneoplastic myopathies are often inflammatory or necrotizing, and can be associated with specific antibodies.[1] Regional ischemic immune myopathy (RIIM) is a rare disorder attributed to muscle vasculopathy and considered paraneoplastic.[2] Contrary to dermatomyositis, which is associated with complement mediated muscle microangiopathy, capillary depletion, perifascicular pathology and sometimes muscle ischemia,[3] RIIM is characterized by regional necrosis in border zones between damaged perimysial vessels.
Source: Neuromuscular Disorders - September 17, 2023 Category: Neurology Authors: Andre Granger, Pannathat Soontrapa, Christopher J. Klein, Margherita Milone Source Type: research
GNE Myopathy: Can homozygous asymptomatic subjects give a clue for the identification of protective factors?
GNE myopathy is caused by bi allelic recessive mutations in the GNE gene, which encodes a bifunctional enzyme in the metabolic pathway of sialic acid synthesis. The product of the GNE gene is UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (UDP-GlcNAc 2-epimerase/ManNAc kinase, GNE), a 753 amino acid highly conserved protein in mammals. GNE myopathy is a rare worldwide neuromuscular disease, usually manifesting with slowly progressive distal muscle weakness in early adulthood, and a typical muscle pathology [1,2].
Source: Neuromuscular Disorders - August 26, 2023 Category: Neurology Authors: Stella Mitrani-Rosenbaum, Ruben Attali, Zohar Argov Source Type: research
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14
Early onset myopathies (EOM) are inherited monogenic muscle conditions with variable clinical expression. The onset of disease is during infancy or early childhood with hypotonia, muscle weakness, delayed motor development, and sometimes central nervous system involvement [1]. The two main groups of early onset myopathies are congenital muscular dystrophies (CMDs) and congenital myopathies (CMs) [2]. CMDs are genetically heterogeneous and characterized by severe weakness with elevated serum Creatine kinases, prominent contractures, and often central nervous system (CNS) involvement [3].
Source: Neuromuscular Disorders - August 25, 2023 Category: Neurology Authors: Gianmarco Severa, Alessandra Pennisi, Christine Barnerias, Chiara Fiorillo, Marcello Scala, Valentina Taglietti, Andreea Iuliana Cojocaru, Dima Jouni, Lucie Tosca, G érard Tachdjian, Isabelle Desguerre, François-Jérome Authier, Robert-Yves Carlier, Cor Tags: Case report Source Type: research
A highly sensitive and quantitative assay for dystrophin protein using Single Molecule Count Technology
Duchenne muscular dystrophy (DMD) is a recessive X-linked myopathy caused by nonsense or frameshift mutations in the DMD gene, affecting 1 in 3,500 –6,000 newborn males [1]]. Dystrophin, encoded by the DMD gene, is expressed in skeletal muscle cells and cardiomyocytes. It forms complexes with glycoproteins that play an essential role in maintaining muscle cell membrane stability [2,3]. In patients with DMD, a lack of dystrophin causes cell me mbrane instability, resulting in severe muscle degeneration.
Source: Neuromuscular Disorders - August 22, 2023 Category: Neurology Authors: Misawa Niki Ishii, Maria Quinton, Hidenori Kamiguchi Source Type: research
HyperCKemia: an early sign of childhood-onset neutral lipid storage disease with myopathy
Neutral lipid storage disorders (NLSDs) are a group of autosomal recessive disorders in which triglycerides are abnormally deposited in various tissues owing to impaired triglyceride hydrolysis [1]. NLSDs are classified according to their clinical manifestations and causative genes into NLSDs with ichthyosis (NLSDI or Chanarin –Dorfman syndrome) and NLSDs with myopathy (NLSDM). NLSDI is caused by mutations in the comparative gene identification-58 (CGI-58, also known as ABHD5) gene and is characterized by ichthyosis, liver damage, hearing loss, ophthalmologic symptoms, and central nervous system involvement.
Source: Neuromuscular Disorders - July 30, 2023 Category: Neurology Authors: Xiaona Fu, Xinying Yang, Xiaofei Wang, Bingbing Jia, Wenna Ma, Hui Xiong, Fang Fang, Xiaotun Ren, Junlan Lv Tags: Research paper Source Type: research
Magnetic Resonance Imaging Findings of the Lower Limb Muscles in Anti-Mitochondrial M2 Antibody-Positive Myositis
Group of disorders characterized by myositis symptoms, including progressive muscle weakness and muscle inflammation in a setting of autoimmune abnormalities are collectively known as autoimmune myositis (AIM) or idiopathic inflammatory myopathy [1,2], including dermatomyositis (DM), anti-synthetase syndrome (ASS), immune-mediated necrotizing myopathy (IMNM), inclusion body myositis (IBM) [3,4] and other less well-characterized conditions.
Source: Neuromuscular Disorders - July 25, 2023 Category: Neurology Authors: Hirotaka Nomiya, Tadanori Hamano, Naoko Takaku, Hirohito Sasaki, Kojiro Usui, Sayaka Sanada, Tomohisa Yamaguchi, Yuki Kitazaki, Yoshinori Endo, Tomoko Kamisawa, Soichi Enomoto, Norimichi Shirahuzi, Akiko Matsunaga, Asako Ueno, Masamichi Ikawa, Osamu Yamam Tags: Research paper Source Type: research
Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: A case report
Oculopharyngodistal myopathy (OPDM; OMIM 164310) is a rare adult-onset neuromuscular disease characterized by progressive weakness in ocular, facial, bulbar and distal limb muscles [1 –3]. The myopathological features include myopathic change with rimmed vacuoles. Ultrastructural examinations of the central and peripheral nervous system tissues, skeletal muscles and skin demonstrate abundant round, eosinophilic intranuclear inclusions [1–3]. Since first acknowledgement in 197 7 [4], more than 300 individuals with OPDM have been reported worldwide [1–14].
Source: Neuromuscular Disorders - July 7, 2023 Category: Neurology Authors: Xinyu Gu, Kexin Jiao, Dongyue Yue, Xilu Wang, Kai Qiao, Mingshi Gao, Jie Lin, Chong Sun, Chongbo Zhao, Wenhua Zhu, Jianying Xi Tags: Case report Source Type: research
Respiratory features of centronuclear myopathy in the Netherlands
Centronuclear myopathies (CNMs) are a group of inherited neuromuscular disorders which are histopathologically characterized by the presence of nuclei in the center of muscle cells [1]. CNM is clinically and genetically heterogenous, mainly caused by mutations in MTM1, DNM2, RYR1, TTN, and BIN1 [2 –5]. The majority of the corresponding proteins are involved in membrane trafficking and the formation of structures crucial for excitation-contraction coupling, and are thus essential for normal muscle function [6].
Source: Neuromuscular Disorders - June 11, 2023 Category: Neurology Authors: Sietse Bouma, Nicolle Cobben, Karlijn Bouman, Michael Gaytant, Ries van de Biggelaar, Jeroen van Doorn, Stacha F.I. Reumers, Nicoline BM Voet, Jonne Doorduin, Corrie E. Erasmus, Erik-Jan Kamsteeg, Heinz Jungbluth, Peter Wijkstra, Nicol C. Voermans Tags: Research paper Source Type: research
Novel p.Asp27Glu ACTA1 Variant Features Congenital Myopathy with Finger Flexor Weakness, Cardiomyopathy, and Cardiac Conduction Defects
The skeletal muscle α-actin 1 gene (ACTA1) encodes skeletal muscle α-actin, a highly conserved protein constituting the main actin isoform in thin filaments of the sarcomere, which is essential to skeletal and cardiac muscle contraction through interaction with myosin [1–3]. Pathogenic variants in ACTA1 cause autos omal dominant, or, less frequently, recessive congenital myopathies [1–5]. Clinical presentations are heterogeneous in age of onset and severity, ranging from severe infantile weakness with respiratory involvement to mild adolescent-to-adult-onset proximal-predominant weakness [6–8] with poor ge notype-p...
Source: Neuromuscular Disorders - May 30, 2023 Category: Neurology Authors: Bridget Mulvany-Robbins, Brendan Putko, Laura Schmitt, Gavin Oudit, Cecile Phan, Grayson Beecher Tags: Case report Source Type: research
Severe congenital x-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant
X-linked myopathy with excessive autophagy (XMEA OMIM: 310440) is a rare inherited disease segregating as an X-linked trait. Histopathologically, it is characterized by aberrant accumulation of autophagic vacuoles and atrophy of the skeletal muscle. It is caused by pathogenic variants in the VMA21 gene, which reduce expression of VMA21, an essential assembly chaperone of the vacuolar proton pump complex ATPase (V-ATPase) required to acidify the lysosome [1]. Reduction in VMA21 protein leads to an elevated lysosomal pH and impairment of the autophagy process.
Source: Neuromuscular Disorders - May 22, 2023 Category: Neurology Authors: Patricia Blanco-Arias, Inmaculada Medina Mart ínez, Luisa Arrabal Fernández, Eloy Rivas Infante, Maria Jose Salmerón Fernández, Catalina González Hervás, Pilar Azcón González de Aguilar, Lluis Armengol, Susana Pedrinaci, Francesca Perin Tags: Case report Source Type: research
Titin related myopathy with ophthalmoplegia. A novel phenotype
Titin is the largest known protein which is encoded by the TTN gene (MIM: 188840). In both cardiac and skeletal muscles, titin plays a critical role in sarcomere assembly during muscle development. It also generates passive tension and structural integrity
Source: Neuromuscular Disorders - May 12, 2023 Category: Neurology Authors: Issa Alawneh, Kyoko E. Yuki, Kimberly Amburgey, Grace Yoon, James J. Dowling, Lili-Naz Hazrati, Hernan Gonorazky Source Type: research
Titin Related Myopathy with Ophthalmoplegia. A Novel Phenotype.
Titin is the largest known protein which is encoded by the TTN gene (MIM:188840).
Source: Neuromuscular Disorders - May 12, 2023 Category: Neurology Authors: Issa Alawneh, Kimberly Amburgey, Grace Yoon, James J Dowling, Lili-Naz Hazrati, Hernan Gonorazky Tags: Case report Source Type: research
Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis
Tatton-Brown-Rahman syndrome (TBRS; MIM 615879) is characterized by tall stature, a distinctive facial appearance, and impaired intellectual development[1]. Characteristic physical features include low set eyebrows, narrow palpebral fissures, pes planus, hypermobile joints and kyphoscoliosis. TBRS is also known as DNMT3A-overgrowth syndrome[2] and is associated with increased susceptibility to the development of acute myeloid leukemia (AML; MIM: 601626)[3]. Recently, autistic traits were shown to be prevalent in a series of TBRS patients[4].
Source: Neuromuscular Disorders - April 4, 2023 Category: Neurology Authors: Roula Ghaoui, Thuong T. Ha, Jennifer Kerkhof, Haley McConkey, Song Gao, Milena Babic, Rob King, Gianina Ravenscroft, Barbara Kocyzek, Sophia Otto, Nigel G. Laing, Hamish Scott, Bekim Sadikovic, Karin S. Kassahn Tags: Case report Source Type: research
Overlap syndrome with antibodies against multiple transfer-RNA components presenting antisynthetase syndrome
Idiopathic inflammatory myopathy (myositis) is classified into four major subsets based on clinical presentation, myopathology, and autoantibodies: inclusion body myositis, immune-mediated necrotizing myopathy, dermatomyositis, and antisynthetase syndrome [1,2]. Overlap syndrome is a clinical entity of myositis accompanied by one or more collagen diseases such as systemic lupus erythematosus, systemic sclerosis, and rheumatoid arthritis [3]. Whether the muscle histopathology of overlap syndrome falls into one of these four subsets or presents specific features different from any of them has not been determined.
Source: Neuromuscular Disorders - March 16, 2023 Category: Neurology Authors: Haruhiko Motegi, Yohei Kirino, Ryoji Morishita, Ichizo Nishino, Shigeaki Suzuki Tags: Case report Source Type: research
Collagen vi-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study
The collagen VI-related myopathies include Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD) which are the flanking ends of a continuous spectrum of disorders. Bethlem myopathy, also under the category of congenital muscular dystrophy, is a milder form of the disorder presents with weakness that is more noticeable in mid-childhood or early adolescence and progresses more slowly. Distal hyperlaxity, skin changes and early contractures are common. On the other end of the spectrum, UCMD is the severest form of the disorder, presenting with weakness in early life.
Source: Neuromuscular Disorders - March 11, 2023 Category: Neurology Authors: Anna KY KWONG, Yanmin ZHANG, Ronnie SL HO, Yuan GAO, Xu LING, Mandy HY TSANG, HM LUK, Brian HY CHUNG, Carsten G B ÖNNEMANN, Asif JAVED, Sophelia HS CHAN Source Type: research
