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Muscular myopathy

A Nascimento Osorio, J Medina Cantillo, A Camacho Salas, M Madruga Garrido, J J Vilchez Padilla
INTRODUCTION: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease...
March 8, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
Yat Hei Leung, Francois Belanger, Jennifer Lu, Jacques Turgeon, Veronique Michaud
BACKGROUND: Drug-induced myopathy is a serious side effect that often requires removal of a medication from a drug regimen. For most drugs, the underlying mechanism of drug-induced myopathy remains unclear. Monocarboxylate transporters (MCTs) mediate L-lactic acid transport, and inhibition of MCTs may potentially lead to perturbation of L-lactic acid accumulation and muscular disorders. Therefore, we hypothesized that L-lactic acid transport may be involved in the development of drug-induced myopathy...
March 7, 2018: Current Pharmaceutical Biotechnology
Veronika Boczonadi, Martin S King, Anthony C Smith, Monika Olahova, Boglarka Bansagi, Andreas Roos, Filmon Eyassu, Christoph Borchers, Venkateswaran Ramesh, Hanns Lochmüller, Tuomo Polvikoski, Roger G Whittaker, Angela Pyle, Helen Griffin, Robert W Taylor, Patrick F Chinnery, Alan J Robinson, Edmund R S Kunji, Rita Horvath
PurposeTo understand the role of the mitochondrial oxodicarboxylate carrier (SLC25A21) in the development of spinal muscular atrophy-like disease.MethodsWe identified a novel pathogenic variant in a patient by whole-exome sequencing. The pathogenicity of the mutation was studied by transport assays, computer modeling, followed by targeted metabolic testing and in vitro studies in human fibroblasts and neurons.ResultsThe patient carries a homozygous pathogenic variant c.695A>G; p.(Lys232Arg) in the SLC25A21 gene, encoding the mitochondrial oxodicarboxylate carrier, and developed spinal muscular atrophy and mitochondrial myopathy...
March 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Hsien-Chun Chiu, Chen-Yuan Chiu, Rong-Sen Yang, Ding-Cheng Chan, Shing-Hwa Liu, Chih-Kang Chiang
BACKGROUND: A global consensus on the loss of skeletal muscle mass and function in humans refers as sarcopenia and cachexia including diabetes, obesity, renal failure, and osteoporosis. Despite a current improvement of sarcopenia or cachexia with exercise training and supportive therapies, alternative and specific managements are needed to discover for whom are unable or unwilling to embark on these treatments. Alendronate is a widely used drug for osteoporosis in the elderly and postmenopausal women...
March 6, 2018: Journal of Cachexia, Sarcopenia and Muscle
Dustin Anderson, Nabeela Nathoo, Jian-Qiang Lu, Kinga T Kowalewska-Grochowska, Christopher Power
Sarcocystosis is a zoonotic infection that causes intestinal and muscular illnesses in humans. Sarcocystosis was until recently considered rare in humans. To complete their life cycle, Sarcocystis species require both a definitive and an intermediate host. Humans are the definitive host when infected by one of two species: Sarcocystis hominis (from eating undercooked beef) or Sarcocystis suihominis (from eating uncooked pork). Infection with either of these species results in intestinal sarcocystosis, causing a self-limited disease characterized by nausea, abdominal pain, and diarrhea...
March 5, 2018: Journal of Neurovirology
Payam Mohassel, Andrew L Mammen
Anti-HMGCR myopathy was first recognized and characterized in patients with a history of statin exposure and immune-mediated necrotizing myopathy. After the discovery of anti-HMGCR autoantibodies, several international groups identified and characterized more patients, expanding the phenotypic spectrum of this disease to include pediatric patients and young adults without statin exposure and those with a chronic myopathy resembling limb-girdle muscular dystrophy. We provide a summary of clinical findings, pathologic features, muscle imaging, and immunogenetic risk factors of the disease...
2018: Journal of Neuromuscular Diseases
Nora Yucel, Alex C Chang, John W Day, Nadia Rosenthal, Helen M Blau
Duchenne muscular dystrophy (DMD) is a common fatal heritable myopathy, with cardiorespiratory failure occurring by the third decade of life. There is no specific treatment for DMD cardiomyopathy, in large part due to a lack of understanding of the mechanisms underlying the cardiac failure. Mdx mice, which have the same dystrophin mutation as human patients, are of limited use, as they do not develop early dilated cardiomyopathy as seen in patients. Here we summarize the usefulness of the various commonly used DMD mouse models, highlight a model with shortened telomeres like humans, and identify directions that warrant further investigation...
2018: NPJ Regenerative Medicine
Mark A Aminzadeh, Russell G Rogers, Mario Fournier, Rachel E Tobin, Xuan Guan, Martin K Childers, Allen M Andres, David J Taylor, Ahmed Ibrahim, Xiangming Ding, Angelo Torrente, Joshua M Goldhaber, Michael Lewis, Roberta A Gottlieb, Ronald A Victor, Eduardo Marbán
Genetic deficiency of dystrophin leads to disability and premature death in Duchenne muscular dystrophy (DMD), affecting the heart as well as skeletal muscle. Here, we report that clinical-stage cardiac progenitor cells, known as cardiosphere-derived cells (CDCs), improve cardiac and skeletal myopathy in the mdx mouse model of DMD. Injection of CDCs into the hearts of mdx mice augments cardiac function, ambulatory capacity, and survival. Exosomes secreted by human CDCs reproduce the benefits of CDCs in mdx mice and in human induced pluripotent stem cell-derived Duchenne cardiomyocytes...
February 17, 2018: Stem Cell Reports
Albert Selva-O'Callaghan, Marcelo Alvarado-Cardenas, Iago Pinal-Fernández, Ernesto Trallero-Araguás, José Cesar Milisenda, María Ángeles Martínez, Ana Marín, Moisés Labrador-Horrillo, Cándido Juárez, Josep María Grau-Junyent
Musculoskeletal manifestations are well-recognized side effects of treatment with statins. New advances in this field have appeared in recent years. This review focuses on the diagnosis of these conditions and their underlying pathogenesis, in particular immune-mediated necrotizing myopathy. Areas covered: Clinical phenotypes including rhabdomyolysis, myalgia and/or mild hyperCKemia, self-limited toxin statin myopathy, and immune-mediated necrotizing myopathy are herein described. Therapeutic recommendations and a diagnostic algorithm in statin-associated myopathy are also proposed...
March 2018: Expert Review of Clinical Immunology
J Lim, A van Royen-Kerkhof, R E Jonkers, M V Starink, A E Voskuyl, A J van der Kooi
Idiopathic inflammatory myopathy (IIM), commonly referred to as "myositis", is a rare but treatable auto-immune disease that is often misdiagnosed or diagnosed after significant delay. Using three clinical case reports as introductory examples, an overview is given - and pitfalls are discussed - of the diagnosis and treatment of myositis. Disease features are often extra-muscular in nature, may vary considerably between patients, and are frequently non-specific. Myositis-related morbidity is high and myositis can be fatal, mainly due to cancer and interstitial lung disease...
2018: Nederlands Tijdschrift Voor Geneeskunde
Satish V Khadilkar, Bhagyadhan A Patel, Jamshed A Lalkaka
The expansion of the spectrum of limb girdle muscular dystrophies (LGMDs) in recent years means that neurologists need to be familiar with the clinical clues that can help with their diagnosis. The LGMDs comprise a group of genetic myopathies that manifest as chronic progressive weakness of hip and shoulder girdles. Their inheritance is either autosomal dominant (LGMD1) or autosomal recessive (LGMD2). Their prevalence varies in different regions of the world; certain ethnic groups have documented founder mutations and this knowledge can facilitate the diagnosis...
February 22, 2018: Practical Neurology
Huan T Nguyen, Satoru Noguchi, Kazuma Sugie, Yoshiyuki Matsuo, Chuyen T H Nguyen, Hitoshi Koito, Ichiro Shiojima, Ichizo Nishino, Hiroyasu Tsukaguchi
Lysosomal associated membrane protein 2 (LAMP2) is physiologically implicated in autophagy. A genetic LAMP2 defect causes Danon disease, which consists of two major phenotypes of myopathy and cardiomyopathy. In addition, arteriopathy may manifest on rare occasions but the pathological basis remains unknown. We encountered two Danon families that developed small-vessel vasculopathy in the coronary or cerebral arteries. To investigate the underlying mechanisms, we characterized the biological features of LAMP-2-deficient mice and cultured cells...
February 20, 2018: Scientific Reports
Edward Smitaman, Dyan V Flores, Catalina Mejía Gómez, Mini N Pathria
Atraumatic disorders of skeletal muscles include congenital variants; inherited myopathies; acquired inflammatory, infectious, or ischemic disorders; neoplastic diseases; and conditions leading to muscle atrophy. These have overlapping appearances at magnetic resonance (MR) imaging and are challenging for the radiologist to differentiate. The authors organize muscle disorders into four MR imaging patterns: (a) abnormal anatomy with normal signal intensity, (b) edema/inflammation, (c) mass, and (d) atrophy, highlighting each of their key clinical and imaging findings...
February 16, 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Per H Jonson, Johanna Palmio, Mridul Johari, Sini Penttilä, Anni Evilä, Isabelle Nelson, Gisèle Bonne, Nicolas Wiart, Vincent Meyer, Anne Boland, Jean-François Deleuze, Cécile Masson, Tanya Stojkovic, Françoise Chapon, Norma B Romero, Guilhem Solé, Xavier Ferrer, Ana Ferreiro, Peter Hackman, Isabelle Richard, Bjarne Udd
BACKGROUND AND PURPOSE: To determine the genetic background of unknown muscular dystrophy in five French families. METHODS: Twelve patients with limb girdle muscular dystrophy or distal myopathy were clinically evaluated. Gene mutations were identified using targeted exon sequencing and mutated DNAJB6 was tested in vitro. RESULTS: Five patients presented with distal lower limb weakness while others had proximal presentation with variable rate of progression starting at the median age of 34...
February 13, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Hyung Jun Park, Wookjae Lee, Se Hoon Kim, Jung Hwan Lee, Ha Young Shin, Seung Min Kim, Kee Duk Park, Ji Hyun Lee, Young Chul Choi
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealed that the FAT1 expression is associated with disease activity of FSHD, and the FAT1 alterations result in myopathy with a FSHD-like phenotype. We describe a 59-year-old woman with both contracted D4Z4 repeat units and a FAT1 mutation. Shoulder girdle muscle weakness developed at the age of 56 years, and was followed by proximal leg weakness. When we examined her at 59 years of age, she displayed asymmetric and predominant weakness of facial and proximal muscles...
March 2018: Yonsei Medical Journal
Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, Anni Evilä, Giuseppina Di Fruscio, Olivier Vanakker, Sara Gibertini, Liliana Vercelli, Alessandra Ruggieri, Carlo Antozzi, Helena Luque, Sandra Janssens, Maria Barbara Pasanisi, Chiara Fiorillo, Monika Raimondi, Manuela Ergoli, Luisa Politano, Claudio Bruno, Anna Rubegni, Marika Pane, Filippo M Santorelli, Carlo Minetti, Corrado Angelini, Jan De Bleecker, Maurizio Moggio, Tiziana Mongini, Giacomo Pietro Comi, Lucio Santoro, Eugenio Mercuri, Elena Pegoraro, Marina Mora, Peter Hackman, Bjarne Udd, Vincenzo Nigro
Importance: Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpretation of the numerous rare variants identified in TTN is a difficult challenge given its large size. Objective: To identify genetic variants in titin in a cohort of patients with muscle disorders. Design, Setting, and Participants: In this case series, 9 patients with titinopathy and 4 other patients with possibly disease-causing variants in TTN were identified...
February 12, 2018: JAMA Neurology
Y Fan, A Liu, C Wei, H Yang, X Chang, S Wang, Y Yuan, C Bonnemann, Q Wu, X Wu, H Xiong
Collagen VI-related myopathy, caused by pathogenic variants in the genes encoding collagen VI, represents a clinical continuum from Ullrich congenital muscular dystrophy (UCMD) to Bethlem myopathy (BM). Clinical data of 60 probands and their family members were collected and muscle biopsies of 26 patients were analyzed. COL6A1, COL6A2 and COL6A3 exons were analyzed by direct sequencing or next generation sequencing (NGS). Sixty patients were characterized by delayed motor milestones, muscle weakness, skin and joint changes with forty UCMD and twenty BM...
February 8, 2018: Clinical Genetics
Takako Jones, Peter L Jones
The Double homeobox 4 (DUX4) gene is an important regulator of early human development and its aberrant expression is causal for facioscapulohumeral muscular dystrophy (FSHD). The DUX4-full length (DUX4-fl) mRNA splice isoform encodes a transcriptional activator; however, DUX4 and its unique DNA binding preferences are specific to old-world primates. Regardless, the somatic cytotoxicity caused by DUX4 expression is conserved when expressed in cells and animals ranging from fly to mouse. Thus, viable animal models based on DUX4-fl expression have been difficult to generate due in large part to overt developmental toxicity of low DUX4-fl expression from leaky transgenes...
2018: PloS One
Soo Yeon Kim, Woo Joong Kim, Hyuna Kim, Sun Ah Choi, Jin Sook Lee, Anna Cho, Se Song Jang, Byung Chan Lim, Ki Joong Kim, Jong-Il Kim, Si Houn Hahn, Jong-Hee Chae
INTRODUCTION: We aimed to analyze the clinical and genetic characteristics of collagen VI-related myopathy. METHODS: We analyzed the clinical course and mutation spectrum in patients with collagen VI gene mutations among our congenital muscular dystrophy cohort. RESULTS: Among 24 patients with mutations in collagen VI coding genes, 13 (54.2%) were categorized as Ullrich type, and 11 (45.8%) as non-Ullrich type. Congenital orthopedic problems were similarly observed in both types, yet multiple joint contractures were found only in the Ullrich type...
February 6, 2018: Muscle & Nerve
Afagh Alavi, Sara Esmaeili, Shahriar Nafissi, Kimia Kahrizi, Hossein Najmabadi
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary myopathy (prevalence 1/8300-1/20,000). It is typically characterized by progressive weakness of facial, scapular and humeral muscles. Pelvic, abdominal and lower limbs muscles may eventually be affected. FSHD is classified into two subgroups, FSHD1 and FSHD2. FSHD1 is due to a reduction in the copy number of D4Z4 macrosatellites on chromosome 4q35 (11-100 repeats in normal individuals and 1-10 repeats in patients), and FSHD2 is caused by mutations in SMCHD1 or DNMT3B...
January 12, 2018: Neuromuscular Disorders: NMD
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