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Inclusion body myopathy

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https://www.readbyqxmd.com/read/27904121/sporadic-inclusion-body-myositis-manifesting-as-isolated-muscle-weakness-of-the-finger-flexors-three-years-after-disease-onset
#1
Yuichi Suwa, Naoki Suzuki, Temma Soga, Ryuhei Harada, Aya Shibui, Hiroshi Kuroda, Rumiko Izumi, Maki Tateyama, Ichiro Nakashima, Masahiro Sonoo, Masashi Aoki
Sporadic inclusion body myositis (sIBM) is a chronic progressive myopathy characterized by muscle weakness of both the quadriceps femoris and finger flexors. We herein present the case of a typical male patient with sIBM, which manifested as the isolated weakness of the finger flexors three years after the disease onset. We have identified several patients with sIBM in our cohort with muscle weakness of the flexors but not the quadriceps femoris. Examination of the flexor digitorum profundus muscle is important for the early and proper diagnosis of sIBM, even if a patient only presents with isolated finger flexor muscle weakness...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27888415/magnetic-resonance-imaging-patterns-of-muscle-involvement-in-genetic-muscle-diseases-a-systematic-review
#2
REVIEW
Doris G Leung
A growing body of the literature supports the use of magnetic resonance imaging as a potential biomarker for disease severity in the hereditary myopathies. We performed a systematic review of the medical literature to evaluate patterns of fat infiltration observed in magnetic resonance imaging studies of muscular dystrophy and congenital myopathy. Searches were performed using MEDLINE, EMBASE, and grey literature databases. Studies that described fat infiltration of muscles in patients with muscular dystrophy or congenital myopathy were selected for full-length review...
November 25, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27861218/inclusion-body-myositis-what-most-impacts-patients-lives
#3
Cynthia Gibson, Nicholas E Johnson, Eileen Eastwood, Chad Heatwole
OBJECTIVE: Inclusion body myositis (IBM) is the most common form of idiopathic inflammatory myopathy in adults older than 50 years. Few studies have focused on the functional, physical, and social limitations of this disease. This study identifies pertinent symptoms that impact the health and daily function of patients with IBM. METHODS: We used semistructured interviews with 10 biopsy-confirmed adults with IBM to identify the psychological, physical, and functional limitations that have the greatest impact on the lives of patients with IBM...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27858337/development-and-evaluation-of-a-standardized-elisa-for-the-determination-of-autoantibodies-against-cn-1a-mup44-nt5c1a-in-sporadic-inclusion-body-myositis
#4
Sabine L Kramp, Dmitry Karayev, Guo Shen, Allan L Metzger, Robert I Morris, Eugene Karayev, Yvonne Lam, Richard M Kazdan, Ger J M Pruijn, Sandra Saschenbrecker, Cornelia Dähnrich, Wolfgang Schlumberger
PURPOSE: Sporadic inclusion body myositis (sIBM) is an autoimmune degenerative disease of the muscle, with inflammatory infiltrates and inclusion vacuoles. Its pathogenesis is not fully understood and the diagnosis is hampered by its imprecise characteristics, at times indistinguishable from other idiopathic inflammatory myopathies such as polymyositis and dermatomyositis. The diagnosis may be assisted by the detection of autoantibodies targeting Mup44, a skeletal muscle antigen identified as cytosolic 5'-nucleotidase 1A (cN-1A, NT5C1A)...
December 2016: Auto- Immunity Highlights
https://www.readbyqxmd.com/read/27854208/mortality-and-causes-of-death-in-patients-with-sporadic-inclusion-body-myositis-survey-study-based-on-the-clinical-experience-of-specialists-in-australia-europe-and-the-usa
#5
Mark A Price, Victoria Barghout, Olivier Benveniste, Lisa Christopher-Stine, Alastair Corbett, Marianne de Visser, David Hilton-Jones, John T Kissel, Thomas E Lloyd, Ingrid E Lundberg, Francis Mastaglia, Tahseen Mozaffar, Merrilee Needham, Jens Schmidt, Kumaraswamy Sivakumar, Carla DeMuro, Brian S Tseng
BACKGROUND: There is a paucity of data on mortality and causes of death (CoDs) in patients with sporadic inclusion body myositis (sIBM), a rare, progressive, degenerative, inflammatory myopathy that typically affects those aged over 50 years. OBJECTIVE: Based on patient records and expertise of clinical specialists, this study used questionnaires to evaluate physicians' views on clinical characteristics of sIBM that may impact on premature mortality and CoDs in these patients...
March 3, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27799074/activation-of-the-keap1-nrf2-stress-response-pathway-in-autophagic-vacuolar-myopathies
#6
Steve Duleh, Xianhong Wang, Allison Komirenko, Marta Margeta
Nrf2 (nuclear factor [erythroid-derived 2]-like 2; the transcriptional master regulator of the antioxidant stress response) is regulated through interaction with its cytoplasmic inhibitor Keap1 (Kelch-like ECH-associated protein 1), which under basal conditions targets Nrf2 for proteasomal degradation. Sequestosome 1 (SQSTM1)/p62-a multifunctional adapter protein that accumulates following autophagy inhibition and can serve as a diagnostic marker for human autophagic vacuolar myopathies (AVMs)-was recently shown to compete with Nrf2 for Keap1 binding, resulting in activation of the Nrf2 pathway...
October 31, 2016: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/27768726/ibmpfd-disease-causing-mutant-vcp-p97-proteins-are-targets-of-autophagic-lysosomal-degradation
#7
Oznur Bayraktar, Ozlem Oral, Nur Mehpare Kocaturk, Yunus Akkoc, Karin Eberhart, Ali Kosar, Devrim Gozuacik
The ubiquitin-proteasome system (UPS) degrades soluble proteins and small aggregates, whereas macroautophagy (autophagy herein) eliminates larger protein aggregates, tangles and even whole organelles in a lysosome-dependent manner. VCP/p97 was implicated in both pathways. VCP/p97 mutations cause a rare multisystem disease called IBMPFD (Inclusion Body Myopathy with Paget's Disease and Frontotemporal Dementia). Here, we studied the role IBMPFD-related mutants of VCP/p97 in autophagy. In contrast with the wild-type VCP/p97 protein or R155C or R191Q mutants, the P137L mutant was aggregate-prone...
2016: PloS One
https://www.readbyqxmd.com/read/27753622/vcp-p97-cooperates-with-yod1-ubxd1-and-plaa-to-drive-clearance-of-ruptured-lysosomes-by-autophagy
#8
Chrisovalantis Papadopoulos, Philipp Kirchner, Monika Bug, Daniel Grum, Lisa Koerver, Nina Schulze, Robert Poehler, Alina Dressler, Sven Fengler, Khalid Arhzaouy, Vanda Lux, Michael Ehrmann, Conrad C Weihl, Hemmo Meyer
Rupture of endosomes and lysosomes is a major cellular stress condition leading to cell death and degeneration. Here, we identified an essential role for the ubiquitin-directed AAA-ATPase, p97, in the clearance of damaged lysosomes by autophagy. Upon damage, p97 translocates to lysosomes and there cooperates with a distinct set of cofactors including UBXD1, PLAA, and the deubiquitinating enzyme YOD1, which we term ELDR components for Endo-Lysosomal Damage Response. Together, they act downstream of K63-linked ubiquitination and p62 recruitment, and selectively remove K48-linked ubiquitin conjugates from a subpopulation of damaged lysosomes to promote autophagosome formation...
October 17, 2016: EMBO Journal
https://www.readbyqxmd.com/read/27752355/cardiac-involvement-in-adult-and-juvenile-idiopathic-inflammatory-myopathies
#9
Thomas Schwartz, Louise Pyndt Diederichsen, Ingrid E Lundberg, Ivar Sjaastad, Helga Sanner
Idiopathic inflammatory myopathies (IIM) include the main subgroups polymyositis (PM), dermatomyositis (DM), inclusion body myositis (IBM) and juvenile DM (JDM). The mentioned subgroups are characterised by inflammation of skeletal muscles leading to muscle weakness and other organs can also be affected as well. Even though clinically significant heart involvement is uncommon, heart disease is one of the major causes of death in IIM. Recent studies show an increased prevalence of traditional cardiovascular risk factors in JDM and DM/PM, which need attention...
2016: RMD Open
https://www.readbyqxmd.com/read/27708273/the-sensitivity-of-exome-sequencing-in-identifying-pathogenic-mutations-for-lgmd-in-the-united-states
#10
Hemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D Jones, Satomi Mitsuhashi, Basil T Darras, Anthony A Amato, Hart Gw Lidov, Catherine A Brownstein, David M Margulies, Timothy W Yu, Mustafa A Salih, Louis M Kunkel, Daniel G MacArthur, Peter B Kang
The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United States using whole-exome sequencing. Fifty-five families affected by LGMD were recruited using an institutionally approved protocol. Exome sequencing was performed on probands and selected parental samples. Pathogenic mutations and cosegregation patterns were confirmed by Sanger sequencing. Twenty-two families (40%) had novel and previously reported pathogenic mutations, primarily in LGMD genes, and also in genes for Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, congenital myopathy, myofibrillar myopathy, inclusion body myopathy and Pompe disease...
October 6, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27671536/a-first-line-diagnostic-assay-for-limb-girdle-muscular-dystrophy-and-other-myopathies
#11
Dorota Monies, Hindi N Alhindi, Mohamed A Almuhaizea, Mohamed Abouelhoda, Anas M Alazami, Ewa Goljan, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Khalid Alabdulrahman, Shazia Subhani, Mohamed El-Kalioby, Tariq Faquih, Salma M Wakil, Nada A Altassan, Brian F Meyer, Saeed Bohlega
BACKGROUND: Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverage of the CDS and 10 bp flanking regions of genes was 99 %. All families were referred to the Neurosciences Clinic of King Faisal Specialist Hospital and Research Centre, Saudi Arabia. Patients presented with muscle weakness affecting the pelvic and shoulder girdle. Muscle biopsy in all cases showed dystrophic or myopathic changes...
September 27, 2016: Human Genomics
https://www.readbyqxmd.com/read/27667295/-insight-into-the-training-of-patients-with-idiopathic-inflammatory-myopathy
#12
Andrea Váncsa
Using current recommended treatment, a majority of patients with idiopathic inflammatory myopathy develop muscle impairment and poor health. Beneficial effects of exercise have been reported on muscle performance, aerobic capacity and health in chronic polymyositis and dermatomyositis, as well as in active disease and inclusion body myositis to some extent. Importantly, randomized controlled trials indicate that improved health and decreased clinical disease activity could be mediated through increased aerobic capacity...
September 2016: Orvosi Hetilap
https://www.readbyqxmd.com/read/27651398/thigh-muscle-mri-in-immune-mediated-necrotising-myopathy-extensive-oedema-early-muscle-damage-and-role-of-anti-srp-autoantibodies-as-a-marker-of-severity
#13
Iago Pinal-Fernandez, Maria Casal-Dominguez, John A Carrino, Arash H Lahouti, Pari Basharat, Jemima Albayda, Julie J Paik, Shivani Ahlawat, Sonye K Danoff, Thomas E Lloyd, Andrew L Mammen, Lisa Christopher-Stine
OBJECTIVES: The aims of this study were to define the pattern of muscle involvement in patients with immune-mediated necrotising myopathy (IMNM) relative to those with other inflammatory myopathies and to compare patients with IMNM with different autoantibodies. METHODS: All Johns Hopkins Myositis Longitudinal Cohort subjects with a thigh MRI (tMRI) who fulfilled criteria for IMNM, dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) or clinically amyopathic DM (CADM) were included in the study...
September 20, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27616487/sporadic-inclusion-body-myositis-recent-advances-and-the-state-of-the-art-in-2016
#14
L Gallay, P Petiot
Sporadic inclusion-body myositis (sIBM) is the most frequent myopathy after 50 years of age. As the clinical presentation may often be typical, pathological confirmation by muscle biopsy appears necessary, but sometimes difficult. Further delineation of the framework of this particular disease, especially during its early-onset stage, appears to be challenging. New classification of diagnostic criteria as well as the identification of new diagnostic hallmarks appear to be the two main tools towards to achieve this purpose...
October 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27616211/multicenter-registry-on-inflammatory-myositis-from-the-rheumatology-society-in-madrid-spain-descriptive-analysis
#15
Laura Nuño, Beatriz Joven, Patricia Carreira, Valentina Maldonado, Carmen Larena, Irene Llorente, Eva Tomero, María Carmen Barbadillo, Paloma García-de la Peña, Lucía Ruiz, Juan Carlos López-Robledillo, Henry Moruno, Ana Pérez, Tatiana Cobo-Ibáñez, Raquel Almodóvar, Leticia Lojo, Indalecio Monteagudo, María Jesús García-De Yébenes, Francisco Javier López-Longo
OBJECTIVE: To analyze clinical characteristics, survival and causes of death of patients diagnosed with autoimmune inflammatory myositis in the REMICAM registry from the Society of Rheumatology in the Community of Madrid (SORCOM). METHODS: Multicenter cohort of patients diagnosed with autoimmune inflammatory myopathy with follow-up between January 1980 and December 2014. A total of 313 variables concerning demographic, clinical and morbidity data were collected, and a comparison was performed between clinical subgroups...
September 5, 2016: Reumatología Clinica
https://www.readbyqxmd.com/read/27541181/epidemiology-of-sporadic-inclusion-body-myositis
#16
Øyvind Molberg, Cecilie Dobloug
PURPOSE OF REVIEW: In this review, we describe recent progress in the clinical epidemiology of sporadic inclusion body myositis (IBM). RECENT FINDINGS: In a population-based, retrospective study from Norway, performed with a denominator population of 2.6 million; and with cases defined by the 1997 and/or 2011 European Neuro-Muscular Centre Research Diagnostic criteria, the estimated point prevalence of IBM was 3.3/100 000. Mean time from symptom onset to diagnosis was 5...
November 2016: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27538664/one-family-one-gene-and-three-phenotypes-a-novel-vcp-valosin-containing-protein-mutation-associated-with-myopathy-with-rimmed-vacuoles-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia
#17
Agessandro Abrahao, Osório Abath Neto, Fernando Kok, Edmar Zanoteli, Bibiana Santos, Wladimir Bocca Vieira de Rezende Pinto, Orlando Graziani Povoas Barsottini, Acary Souza Bulle Oliveira, José Luiz Pedroso
BACKGROUND: VCP (valosin-containing protein gene) variants have been associated with peripheral and central neurodegenerative processes, including inclusion body myopathy (IBM), Paget disease of bone (PDB), frontotemporal dementia (FTD), and familial amyotrophic lateral sclerosis (ALS) type 14. The combination of IBM, PDB (IBMPFD1) can presented in one individual. However, the association of IBMPFD1 and ALS in the same family is rare. METHODS: We reported three individuals from a Brazilian kindred with intrafamilial phenotype variability...
September 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27538058/advances-in-serological-diagnostics-of-inflammatory-myopathies
#18
Olivier Benveniste, Werner Stenzel, Yves Allenbach
PURPOSE OF REVIEW: Inflammatory myopathies are rare diseases. Their diagnosis criteria are historically based on their clinical phenotype (topography of the muscle weakness, presence of skin lesions and/or of extra-skin/muscle signs) and the presence of inflammatory infiltrates on muscle biopsy. However, the recent discovery of different myositis-specific antibodies (MSA) or myositis-associated antibodies (MAA) permitted to revisit these old classifications. This review covers recent findings in clinical and pathological phenotypes regarding prognosis, associated cancer and response to the treatment based on MSA/MAA categorization...
October 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27522114/the-immunoproteasomes-are-key-to-regulate-myokines-and-mhc-class-i-expression-in-idiopathic-inflammatory-myopathies
#19
Salyan Bhattarai, Khetam Ghannam, Sabine Krause, Olivier Benveniste, Andreas Marg, Gerjan de Bruin, Bo-Tao Xin, Hermen S Overkleeft, Simone Spuler, Werner Stenzel, Eugen Feist
Idiopathic inflammatory myopathies (IIMs) are diseases with muscle weakness, morphologically characterized by inflammatory infiltration and increased expression of MHC class I molecule on myofibers. Immunoproteasome, as a proteolytic complex that shapes the repertoire of antigenic peptides, has been previously demonstrated to be over-expressed in IIMs at mRNA level. In this study, we investigated the expression and the function of the immunoproteasome in IIMs in more detail. As shown by immunofluorescence staining, expression of relevant players of the immunoproteasome was detectable in the inflamed skeletal muscle tissue from IIM patients...
August 10, 2016: Journal of Autoimmunity
https://www.readbyqxmd.com/read/27500162/cardiac-restricted-expression-of-vcp-ter94-rnai-or-disease-alleles-perturbs-drosophila-heart-structure-and-impairs-function
#20
Meera C Viswanathan, Anna C Blice-Baum, Tzu-Kang Sang, Anthony Cammarato
Valosin-containing protein (VCP) is a highly conserved mechanoenzyme that helps maintain protein homeostasis in all cells and serves specialized functions in distinct cell types. In skeletal muscle, it is critical for myofibrillogenesis and atrophy. However, little is known about VCP's role(s) in the heart. Its functional diversity is determined by differential binding of distinct cofactors/adapters, which is likely disrupted during disease. VCP mutations cause multisystem proteinopathy (MSP), a pleiotropic degenerative disorder that involves inclusion body myopathy...
June 2016: Journal of Cardiovascular Development and Disease
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