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Limb girdle muscular dystrophy

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https://www.readbyqxmd.com/read/28314630/experiences-of-being-parents-of-young-adults-living-with-recessive-limb-girdle-muscular-dystrophy-from-a-salutogenic-perspective
#1
Anna Carin Aho, Sally Hultsjö, Katarina Hjelm
Recessive limb-girdle muscular dystrophies (LGMD2) involve progressive muscle weakness. Parental support is important for young adults living with LGMD2, but no study has been identified focusing on the parents' experiences. The salutogenic perspective concentrates on how daily life is comprehended, managed and found meaningful, i.e. the person's sense of coherence. The aim of this study was to describe, from a salutogenic perspective, experiences of being parents of young adults living with LGMD2. Nineteen participants were included...
February 3, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28300015/frzb-and-melusin-overexpressed-in-lgmd2a-regulate-integrin-%C3%AE-1d-isoform-replacement-altering-myoblast-fusion-and-the-integrin-signalling-pathway
#2
Oihane Jaka, Leire Casas-Fraile, Margarita Azpitarte, Ana Aiastui, Adolfo López de Munain, Amets Sáenz
Limb-girdle muscular dystrophy type 2A (LGMD2A) is characterised by muscle wasting and progressive degeneration of proximal muscles because of mutations in the CAPN3 gene. However, the underlying pathophysiological mechanisms of muscle degeneration are still not well understood. The objective of this study was to assess the relevance of genes with differential expression in the muscle of LGMD2A patients. For this purpose, we analysed their in vitro expression in primary cultures of human myoblasts and myotubes...
March 16, 2017: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/28284983/systemic-aav-mediated-%C3%AE-sarcoglycan-delivery-targeting-cardiac-and-skeletal-muscle-ameliorates-histological-and-functional-deficits-in-lgmd2e-mice
#3
Eric R Pozsgai, Danielle A Griffin, Kristin N Heller, Jerry R Mendell, Louise R Rodino-Klapac
Limb-girdle muscular dystrophy type 2E (LGMD2E), resulting from mutations in β-sarcoglycan (SGCB), is a progressive dystrophy with deteriorating muscle function, respiratory failure, and cardiomyopathy in 50% or more of LGMD2E patients. SGCB knockout mice share many of the phenotypic deficiencies of LGMD2E patients. To investigate systemic SGCB gene transfer to treat skeletal and cardiac muscle deficits, we designed a self-complementary AAVrh74 vector containing a codon-optimized human SGCB transgene driven by a muscle-specific promoter...
March 8, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#4
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28214267/a-japanese-male-with-a-novel-ano5-mutation-with-minimal-muscle-weakness-and-muscle-pain-till-his-late-fifties
#5
Masato Kadoya, Katsuhisa Ogata, Mikiya Suzuki, Yutaka Honma, Kazunari Momma, Kana Yatabe, Takuhisa Tamura, Kenichi Kaida, Naomasa Miyata, Ichizo Nishino, Ikuya Nonaka, Mitsuru Kawai
Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with anoctamin 5 (ANO5) gene mutation, mainly reported from Northern and Central Europe. We report the case of a Japanese male patient with a novel homozygous mutation of c.2394dup, p.Arg799Thrfs in ANO5 gene, the second patient in the Asian population. He had had marked elevation of creatine kinase (CK) level for more than 10 years with minimal muscular symptoms consisting of muscle stiffness and occasional cramps, preceding the onset of proximal limb weakness...
January 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28187523/hyperckemia-and-myalgia-are-a-common-presentation-of-anoctamin-5-ano5-related-myopathy-in-french-patients
#6
Constantinos Papadopoulos, Pascal Laforêt, Juliette Nectoux, Tanya Stojkovic, Karim Wahbi, Robert-Yves Carlier, Pierre G Carlier, Sarah Leonard-Louis, France Leturcq, Norma Romero, Bruno Eymard, Anthony Behin
Introduction Patients with ANO5 mutations may present not only limb-girdle muscular dystrophy type 2L or adult-onset Miyoshi-type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis. Materials/Methods Data from 38 in France with ANO5 mutations with and without muscle weakness on first examination were compared. Results Twenty patients presented without muscle weakness. Median age at symptom onset or discovery of hyperCKemia was 23 years. Creatine kinase (CK) levels ranged from 200 to 40,000 U/L...
February 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28181471/phenotypic-variability-of-dystrophinopathy-symptomatic-female-carriers
#7
Ana Cotta, Julia Filardi Paim, Elmano Carvalho, Mônica Machado Navarro, Jaquelin Valicek, Antonio Lopes da-Cunha-Junior, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Eni Braga da Silveira, Cynthia Costa-E-Silva, Reinaldo Issao Takata, Antonio Pedro Vargas
BACKGROUND: Dystrophinopathies are X-linked muscular dystrophies characterized by pathogenic mutations in the dystrophin gene. Symptomatic dystrophinopathy female carriers may present with limb-girdle weakness. The diagnosis may be challenging in the absence of affected male relatives. We aimed to describe the phenotypic variability in a series of molecular-confirmed female dystrophinopathy patients. METHODS: This is a retrospective analysis of medical records from 1997 to 2015...
February 9, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28157257/compound-heterozygous-pomt1-mutations-in-a-chinese-family-with-autosomal-recessive-muscular-dystrophy-dystroglycanopathy-c1
#8
Pengzhi Hu, Song Wu, Lamei Yuan, Qiongfen Lin, Wen Zheng, Hong Xia, Hongbo Xu, Liping Guan, Hao Deng
Muscular dystrophy-dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy accompanied by brain and ocular abnormalities, resulting from aberrant alpha-dystroglycan glycosylation. Exome sequencing and Sanger sequencing were performed on a six-generation consanguineous Han Chinese family, members of which had autosomal recessive MDDG. Compound heterozygous mutations, c.1338+1G>A (p...
February 3, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28109637/congenital-mirror-movements-in-a-patient-with-alpha-dystroglycanopathy-due-to-a-novel-pomk-mutation
#9
Didem Ardicli, Rahsan Gocmen, Beril Talim, Rosanne Sprute, Goknur Haliloglu, Sebahattin Cirak, Haluk Topaloglu
Dystroglycanopathies are a heterogeneous group of muscular dystrophies often associated with variable brain and eye involvement. Glycosylated alpha-dystroglycan (ADG) plays a key role in the development and stability of basement membranes as well as organizing axon guidance in the central nervous system. Congenital mirror movements, either isolated or in association with several genetic syndromes, are defined as inability to perform unimanual movements. We report an adolescent boy with limb-girdle muscular dystrophy due to ADG deficiency and coexisting congenital mirror movements...
March 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28107841/adeno-associated-virus-mediated-mini-agrin-delivery-is-unable-to-rescue-disease-phenotype-in-a-mouse-model-of-limb-girdle-muscular-dystrophy-type-2i
#10
Charles H Vannoy, Haowen Zhou, Chunping Qiao, Xiao Xiao, Anne G Bang, Qi L Lu
Agrin is a basement membrane-specific proteoglycan that can regulate orientation of cytoskeleton proteins and improve function of dystrophic skeletal muscle. In skeletal muscle, agrin binds with high affinity to laminin(s) and α-dystroglycan (α-DG), an integral part of the dystrophin-glycoprotein complex. Miniaturized forms of agrin (mAgrin) have been shown to ameliorate disease pathology in a laminin-α2 knockout mouse model of muscular dystrophy, acting as a link between α-DG and laminin(s). Here, we test whether mAgrin might also improve pathologies associated with FKRP-related dystroglycanopathies, another form of muscular dystrophy characterized by weak interactions between muscle and basement membranes...
February 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28104817/dysferlin-mediates-membrane-tubulation-and-links-t-tubule-biogenesis-to-muscular-dystrophy
#11
Julia Hofhuis, Kristina Bersch, Ronja Büssenschütt, Marzena Drzymalski, David Liebetanz, Viacheslav O Nikolaev, Stefan Wagner, Lars S Maier, Jutta Gärtner, Lars Klinge, Sven Thoms
The multi-C2 domain protein dysferlin localizes to the plasma membrane and the T-tubule system in skeletal muscle, however, its physiological mode of action is unknown. Mutations in the DYSF gene lead to autosomal recessive limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Here we show that dysferlin has membrane tubulating capacity and that it shapes the T-tubule system. Dysferlin tubulates liposomes, generates a T-tubule-like membrane system in non-muscle cells, and links the recruitment of phosphatidylinositol 4,5-bisphosphate to the biogenesis of the T-tubule system...
January 19, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28103310/epidemiological-and-molecular-characterization-of-a-mexican-population-isolate-with-high-prevalence-of-limb-girdle-muscular-dystrophy-type-2a-due-to-a-novel-calpain-3-mutation
#12
Carlos A Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C Zenteno
Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting of the shoulder and pelvic girdle muscles. In the past, several population isolates with high incidence of LGMD2 arising from founder mutation effects have been identified. The aim of this work is to describe the results of clinical, epidemiologic, and molecular studies performed in a Mexican village segregating numerous cases of LGMD2. A population census was conducted in the village to identify all LGMD affected patients...
2017: PloS One
https://www.readbyqxmd.com/read/28069416/abnormal-lipid-metabolism-in-skeletal-muscle-tissue-of-patients-with-muscular-dystrophy-in-vitro-high-resolution-nmr-spectroscopy-based-observation-in-early-phase-of-the-disease
#13
Niraj Kumar Srivastava, Ramakant Yadav, Somnath Mukherjee, Lily Pal, Neeraj Sinha
PURPOSE: Qualitative (assignment of lipid components) and quantitative (quantification of lipid components) analysis of lipid components were performed in skeletal muscle tissue of patients with muscular dystrophy in early phase of the disease as compared to control/normal subjects. METHODS: Proton nuclear magnetic resonance (NMR) spectroscopy based experiment was performed on the lipid extract of skeletal muscle tissue of patients with muscular dystrophy in early phase of the disease and normal individuals for the analysis of lipid components [triglycerides, phospholipids, total cholesterol and unsaturated fatty acids (arachidonic, linolenic and linoleic acid)]...
May 2017: Magnetic Resonance Imaging
https://www.readbyqxmd.com/read/28036392/a-differentiation-transcription-factor-establishes-muscle-specific-proteostasis-in-caenorhabditis-elegans
#14
Yael Bar-Lavan, Netta Shemesh, Shiran Dror, Rivka Ofir, Esti Yeger-Lotem, Anat Ben-Zvi
Safeguarding the proteome is central to the health of the cell. In multi-cellular organisms, the composition of the proteome, and by extension, protein-folding requirements, varies between cells. In agreement, chaperone network composition differs between tissues. Here, we ask how chaperone expression is regulated in a cell type-specific manner and whether cellular differentiation affects chaperone expression. Our bioinformatics analyses show that the myogenic transcription factor HLH-1 (MyoD) can bind to the promoters of chaperone genes expressed or required for the folding of muscle proteins...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/28000226/abnormal-spontaneous-activity-in-primary-myopathic-disorders
#15
Monika Nojszewska, Malgorzata Gawel, Elzbieta Szmidt-Salkowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Anna Lusakowska, Biruta Kierdaszuk, Marta Lipowska, Anna Macias, Damian Gawel, Andrzej Seroka, Anna M Kaminska
INTRODUCTION: Reproducible noninsertional spontaneous activity (SA), with the exception of end-plate activity, is an unequivocal sign of abnormality and is one of the most useful findings on electromyography. METHODS: In this retrospective study we analyzed occurrence and distribution of abnormal SA in 151 patients with genetically confirmed myopathies. RESULTS: Complex repetitive discharges (CRD) occurred more frequently than fibrillation potentials (fibs) and positive sharp waves (PSW) in centronuclear myopathy (CNM) and limb-girdle muscular dystrophy type 2A (LGMD-2A), whereas fib/PSW were observed more often in desminopathy and facioscapulohumeral dystrophy (FSHD)...
December 21, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27999547/myocardial-contractile-dysfunction-is-present-without-histopathology-in-a-mouse-model-of-limb-girdle-muscular-dystrophy-2f-and-is-prevented-after-claudin-5-virotherapy
#16
Nima Milani-Nejad, Eric J Schultz, Jessica L Slabaugh, Paul M L Janssen, Jill A Rafael-Fortney
Mutations in several members of the dystrophin glycoprotein complex lead to skeletal and cardiomyopathies. Cardiac care for these muscular dystrophies consists of management of symptoms with standard heart medications after detection of reduced whole heart function. Recent evidence from both Duchenne muscular dystrophy patients and animal models suggests that myocardial dysfunction is present before myocardial damage or deficiencies in whole heart function, and that treatment prior to heart failure symptoms may be beneficial...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27974213/reversal-of-defective-mitochondrial-biogenesis-in-limb-girdle-muscular-dystrophy-2d-by-independent-modulation-of-histone-and-pgc-1%C3%AE-acetylation
#17
Sarah Pambianco, Matteo Giovarelli, Cristiana Perrotta, Silvia Zecchini, Davide Cervia, Ilaria Di Renzo, Claudia Moscheni, Michela Ripolone, Raffaella Violano, Maurizio Moggio, Maria Teresa Bassi, Pier Lorenzo Puri, Lucia Latella, Emilio Clementi, Clara De Palma
Mitochondrial dysfunction occurs in many muscle degenerative disorders. Here, we demonstrate that mitochondrial biogenesis was impaired in limb-girdle muscular dystrophy (LGMD) 2D patients and mice and was associated with impaired OxPhos capacity. Two distinct approaches that modulated histones or peroxisome proliferator-activated receptor-gamma coactivator 1 α (PGC-1α) acetylation exerted equivalent functional effects by targeting different mitochondrial pathways (mitochondrial biogenesis or fatty acid oxidation[FAO])...
December 13, 2016: Cell Reports
https://www.readbyqxmd.com/read/27973386/bone-health-measured-using-quantitative-ultrasonography-in-adult-males-with-muscular-dystrophy
#18
C I Morse, J Smith, A Denny, J Tweedale, N D Searle, K Winwood, G L Onambele-Pearson
OBJECTIVES: To compare muscle and bone health markers in adult males (aged 20-59 yrs) with and without muscular dystrophy (MD). METHODS: Participants included 11 Fascioscapulohumeral (FSH), 11 Becker's (Be), 9 limb girdle (LG), 11 Duchenne (DMD), and 14 non-dystrophic controls (CTRL). Physical activity was assessed using Bone (BPAQ) and disability specific (PASIPD) questionnaires. Bone QUS provided T- and Z scores from the Distal Radius (DR) and Mid-shaft tibia (MST)...
December 14, 2016: Journal of Musculoskeletal & Neuronal Interactions
https://www.readbyqxmd.com/read/27938454/cardiac-manifestations-of-congenital-lmna-related-muscular-dystrophy-in-children-three-case-reports-and-recommendations-for-care
#19
Felice Heller, Ivana Dabaj, Jean K Mah, Jean Bergounioux, Aben Essid, Carsten G Bönnemann, Anne Rutkowski, Gisèle Bonne, Susana Quijano-Roy, Karim Wahbi
Skeletal and cardiac muscle laminopathies, caused by mutations in the lamin A/C gene, have a clinical spectrum from congenital LMNA-related muscular dystrophy to later-onset Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, and dilated cardiomyopathy. Although cardiac involvement is observed at all ages, it has only been well described in adults. We present the evolution of cardiac disease in three children with congenital muscular dystrophy presentation of LMNA-related muscular dystrophy. In this series, atrial arrhythmia was the presenting cardiac finding in all three patients...
December 12, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27935071/severe-murine-limb-girdle-muscular-dystrophy-type-2c-pathology-is-diminished-by-fty720-treatment
#20
Ahlke Heydemann
INTRODUCTION: Limb Girdle Muscular Dystrophy Type 2C (LGMD-2C) is caused by mutations in ɤ-sarcoglycan and is a devastating, progressive, and fully lethal human muscle wasting disease that is without effective treatment. This study examined the efficacy of the sphingosine-1-phosphate receptor modulator FTY720 in treating Sgcg-/-DBA2/J, a severe mouse model of LGMD-2C. FTY720 treatment is expected to target LGMD-2C disease progression at 2 key positions by reducing chronic inflammation and fibrosis...
December 9, 2016: Muscle & Nerve
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