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Source: Neuromuscular Disorders
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Total 1514 results found since Jan 2013.
Recessive myopalladin mutations cause congenital cap myopathy with unusual rods
To identify the causative gene in three patients presenting progressive congenital myopathy and cap structures in skeletal muscle. Cap myopathy is a rare congenital myopathy characterized by the presence of peripherally-placed, well delimited structures resembling a cap in muscle fibres. Caps are mainly composed by thin filaments and segments of Z-disc. Although causative mutations in TPM2, TPM3, and ACTA1 genes have been associated with cap myopathy, an important number of patients remain without a molecular diagnosis precluding familial counselling and better patient health care.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: E. Malfatti, X. Lornage, C. Ch éraud, R. Schneider, V. Biancalana, J. Cuisset, M. Garibaldi, B. Eymard, M. Fardeau, A. Boland, J. Deleuze, J. Thompson, J. Böhm, N. Romero, J. Laporte Source Type: research
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
• Patient registry is a valuable tool in international GNE myopathy research.• The registry expands the knowledge of GNE myopathy genetics and epidemiology• The registry allows monitoring of the disease progression and discover diversity• The data suggest possible genotype-phenotype correlat ion in GNE myopathy
Source: Neuromuscular Disorders - November 14, 2017 Category: Neurology Authors: Oksana Pogoryelova, Phillip Cammish, Hank Mansbach, Zohar Argov, Ichizo Nishino, Alison Skrinar, Yuimo Chan, Shahriar Nafissi, Hosein Shamshiri, Emil Kakkis, Hanns Lochm üller Source Type: research
Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy
Distal myopathy is a clinically and genetically heterogeneous group of genetic muscle disorders characterized by progressive muscular weakness beginning in the foot and hand muscles. Eighteen genes associated with distal myopathy have been identified [1]. Among them, ADSSL1 was recently identified as the causative gene of distal myopathy [2]. Clinical presentation of ADSSL1 myopathy includes predominant distal leg involvement, mild facial weakness, and mildly elevated creatine kinase (CK) level [2-4].
Source: Neuromuscular Disorders - November 21, 2018 Category: Neurology Authors: Hyung Jun Park, Ji-Man Hong, Jung Hwan Lee, Ha Young Shin, Seung Min Kim, Kee Duk Park, Ji Hyun Lee, Young-Chul Choi Source Type: research
EP.21Bcl-2-associated athanogene-3 (BAG3) myopathy in an ethnic-Indian Malaysian patient
We report a Malaysian patient with BAG3 myopathy. The patient is an ethnic Indian girl, second of 4 siblings from non-consanguineous parents, with no family history of neuromuscular disease. She was initially noted to have toe-walking at the age of 2 years.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: K. Goh, S. Low, K. Mun, C. Tan, N. Shahrizaila, I. Nishino, K. Wong Source Type: research
P.73Correlation of gluteus medius muscle activities at walk and trot with myopathy changes on biopsies of the exact same locations in horses without clinical signs of type 1 polysaccharide storage myopathy
In the native Austrian breed of Haflinger horses, abnormal polysaccharide accumulations and signs of myopathy in skeletal muscle are commonly caused by type 1 polysaccharide storage myopathy (T1PSSM), based on the genetic mutation of the glycogen synthase 1 (GYS1) gene. In the absence of clinical signs, mild histological myopathy changes in muscle fibres on biopsy as well as changes in the gluteus muscle activity pattern could be documented in Haflinger horses. Surface electromyography (sEMG) of the gluteus medius muscle during walk and trot as well as superficial muscle biopsies in the exact same location taken immediatel...
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: T. Licka, R. Van den Hoven, U. Schr öder, C. Hahn, R. Zsoldos Source Type: research
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin
Myopathies caused by nebulin (NEB) (MIM: 161650) mutations form a heterogeneous group of muscle disorders with varying clinical, histological, and genetic features. While the majority of patients with causative NEB mutations present a congenital nemaline myopathy phenotype, recessive mutations in NEB have been shown to cause distal nebulin myopathy [1], distal nemaline myopathy [2], core-rod myopathy [3-6], and fetal akinesia/lethal multiple pterygium syndrome (four families) [7-9].
Source: Neuromuscular Disorders - March 23, 2021 Category: Neurology Authors: Lydia Sagath, Vilma-Lotta Lehtokari, Salla V älipakka, Anna Vihola, Maria Gardberg, Peter Hackman, Katarina Pelin, Manu Jokela, Kirsi Kiiski, Bjarne Udd, Carina Wallgren-Pettersson Source Type: research
Alanine transaminase is predominantly increased in the active phase of anti-HMGCR myopathy
Immune-mediated necrotizing myopathy (IMNM) is a subgroup of inflammatory myopathy, characterized by progressive proximal muscle weakness and very high serum creatine kinase (CK) levels. A histopathological examination typically shows abundant necrotic and regenerating myofibers, and scarce inflammatory cell infiltrates. Autoantibodies against 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) [1] and signal recognition particle (SRP) [2] are closely related to IMNM, which are subclassified into anti-HMGCR myopathy, anti-SRP myopathy, and antibody-negative IMNM.
Source: Neuromuscular Disorders - October 28, 2021 Category: Neurology Authors: Akatsuki Kubota, Jun Shimizu, Atsushi Unuma, Meiko Maeda, Yuichiro Shirota, Masato Kadoya, Naohiro Uchio, Yoshio Sakiyama, Noritoshi Arai, Yasushi Shiio, Yoshikazu Uesaka, Hideji Hashida, Nobue K. Iwata, Jun Goto, Ran Nakashima, Tsuneyo Mimori, Tatsushi T Source Type: research
Upper body involvement in GNE myopathy assessed by muscle imaging
GNE myopathy (GNEM, OMIM # 605820), previously known as distal myopathy with rimmed vacuoles, Nonaka's myopathy or hereditary inclusion body myopathy, is an autosomal recessive muscle disorder caused by mutations in the GNE gene[1 –4]. GNE encodes UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase, the rate-limiting enzyme of sialic acid biosynthesis. Although the exact pathophysiology of GNEM remains unknown, one hypothesis is that the mutations in GNE can cause defective sialylation of several myofiber prote ins finally leading to muscle damage [5–8].
Source: Neuromuscular Disorders - January 11, 2022 Category: Neurology Authors: E. Torchia, M. Lucchini, S. Bortolani, M. Monforte, M. Garibaldi, M. Mirabella, T. Tartaglione, E. Ricci, G. Tasca Tags: Research paper Source Type: research
Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia
Abstract: Inclusion body myopathy associated with Paget’s disease of the bone and frontotemporal dementia is a rare but highly penetrant autosomal dominant progressive disorder linked to mutations in valosin containing protein (VCP). Here, we characterize a novel mutation in the linker 1 domain of VCP leading to inclusion body myopathy and/or frontotemporal dementia in 3 generations of a Swiss family. A detailed history of several years of clinical follow-up and electrophysiological, radiological and pathological findings are presented. Five out of 6 individuals suffered from progressive myopathy and 2 out of 6 from fron...
Source: Neuromuscular Disorders - November 9, 2012 Category: Neurology Authors: Anne-Kathrin Peyer, Jochen Kinter, Jürgen Hench, Stephan Frank, Peter Fuhr, Sandra Thomann, Arne Fischmann, Stefan Kneifel, Pilar Camaño, Adolfo López de Munain, Michael Sinnreich, Susanne Renaud Tags: Research papers Source Type: research
Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort
We report clinical, morphological, muscle imaging and genetic data of 10 unrelated Italian patients with centronuclear myopathy related to DNM2 mutations. Our results confirm the clinical heterogeneity of this disease, underlining some peculiar clinical features, such as severe pulmonary impairment and jaw contracture that should be considered in the clinical follow-up of these patients. Muscle MRI showed a distinct pattern of involvement, with predominant involvement of soleus and tibialis anterior in the lower leg muscles, followed by hamstring muscles and adductor magnus at thigh level and gluteus maximus. The detection...
Source: Neuromuscular Disorders - February 11, 2013 Category: Neurology Authors: Michela Catteruccia, Fabiana Fattori, Valentina Codemo, Lucia Ruggiero, Lorenzo Maggi, Giorgio Tasca, Chiara Fiorillo, Marika Pane, Angela Berardinelli, Margherita Verardo, Cinzia Bragato, Marina Mora, Lucia Morandi, Claudio Bruno, Lucio Santoro, Elena Pe Tags: Research papers Source Type: research
P.3.2 Characterization of strength and function in adults with inclusion body myopathy (HIBM)/GNE myopathy
The objective of this study was to characterize the pattern and extent of weakness, evaluate functional limitations and establish the relationship between strength and function in adults with HIBM. Ambulatory subjects enrolled in a Phase 2 study of extended release sialic acid were evaluated prior to randomization. Assessments included hand-held dynamometry (HHD), manual muscle testing, a six-minute walk test (6MWT), gait speed, sit-to-stand, stair climb and weighted arm lift tests. 47 subjects, 29 females and 18 males, with a mean age of 40years (18–64) were evaluated. Most subjects utilized orthoses (62%) or an assisti...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: J.E. Mayhew, A.M. Skrinar, F. Bronstein, A. Esposito, Y. Feinsod-Meiri, J. Florence, E. Fowler, M. Greenberg, E. Malkus, O. Rebibo, C. Siener, Y. Caraco, E. Kolodny, H. Lau, A. Pestronk, P. Shieh, Z. Argov Source Type: research
P.3.9 Unusual pathologic features in a patient with clinical features of Laing early onset distal myopathy
Laing early onset distal myopathy (MPD1) is a rare form of distal myopathy caused by mutations in myosin heavy gene MHY7. While clinical presentation of MPD1 patients is fairly stereotypical (development of complete bilateral foot drop in the early childhood, followed by a very slow or no clinical progression in subsequent years), the biopsy findings are relatively nonspecific except for the lack of rimmed vacuoles (which are a common feature of distal myopathies). Here, we present a patient with clinical features of MPD1 but distinctive light microscopic and ultrastructural findings on muscle biopsy. The patient, a 39year...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: M. Margeta, G. de la Motte, N. Laing Source Type: research
P.9.2 Autosomal dominant nemaline myopathy with marked intrafamilial phenotypic variability
We report a family of autosomal dominant (AD) myopathy with marked intrafamilial phenotypic variability.A 12month old female neonate presented with hypotonia, developmental delay and failure to thrive. The patient had lip cyanosis followed by cardiac arrest. After treatment, she was unable to wean the ventilator, and currently shows hypotonia, with slight improvement. The laboratory findings and brain imaging were unremarkable. Genetic tests for common inherited neuromuscular disorders returned normal. The muscle biopsy showed intranuclear rods with selective type 1 fiber atrophy. Electron microscopy demonstrated severe lo...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: J.S. Park, J.H. Shin, S.J. Hwang, D.S. Kim Source Type: research
P.9.16 The cause of developmental myopathy due to the embryonic myosin heavy chain Thr178Ile mutation
Embryonic myosin heavy chain (MyHC), encoded by MYH3, is expressed during fetal development and its expression declines rapidly after birth. The essential role of embryonic MyHC for fetal development has been highlighted by the identification of dominant MYH3 mutations associated with distal arthrogryposis (DA) syndromes. DA is a clinically and genetically heterogeneous group of disorders characterized by flexion of the joints with congenital contractions. It has been hypothesized that the congenital contractions result from reduced fetal movement and severe myopathy during a period of fetal development. Due to lack of mus...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: M. Pokrzywa, M. Ghobadpour, S. Abdul-Hussein, A.R. Moslemi, H. Tajsharghi Source Type: research
P.3.2 Characterization of strength and function in adults with inclusion body myopathy (HIBM)/GNE myopathy
The objective of this study was to characterize the pattern and extent of weakness, evaluate functional limitations and establish the relationship between strength and function in adults with HIBM. Ambulatory subjects enrolled in a Phase 2 study of extended release sialic acid were evaluated prior to randomization. Assessments included hand-held dynamometry (HHD), manual muscle testing, a six-minute walk test (6MWT), gait speed, sit-to-stand, stair climb and weighted arm lift tests. 47 subjects, 29 females and 18 males, with a mean age of 40years (18–64) were evaluated. Most subjects utilized orthoses (62%) or an assisti...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: J.E. Mayhew, A.M. Skrinar, F. Bronstein, A. Esposito, Y. Feinsod-Meiri, J. Florence, E. Fowler, M. Greenberg, E. Malkus, O. Rebibo, C. Siener, Y. Caraco, E. Kolodny, H. Lau, A. Pestronk, P. Shieh, Z. Argov Source Type: research
