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Congenital myopathy

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https://www.readbyqxmd.com/read/29774307/bethlem-myopathy-in-a-portuguese-patient-case-report
#1
Ana Inês Martins, Cristin Maarque, Jorge Pinto-Basto, Luis Negrão
Mutations of the encoding genes of collagen VI (COL6A1, COL6A2 and COL6A3 ), are responsible for two classical phenotypes (with a wide range of severity), the Ullrich congenital muscular dystrophy (UCMD) and the Bethlem myopathy (BM). We present a male patient of 49 years old, with symptoms of muscle weakness beginning in childhood and of very slowly progression. At the age of 42, the neurological examination revealed proximal lower limb muscle weakness and contractures of fingers flexors muscles, positive Gowers manoeuvre and a waddling gait...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29755106/a-rare-case-of-adult-onset-rectosigmoid-hypoganglionosis
#2
Mohammed Yousef Aldossary, Antonio Privitera, Obai Elzamzami, Nemat Alturki, Khalid Sabr
BACKGROUND Intestinal hypoganglionosis is very rare and accounts for 3% to 5% of all classified congenital intestinal innervation disorders. Isolated hypoganglionosis of the colon is a particularly rare form of the disease, and differential diagnosis includes association with Hirschsprung's disease and chronic intestinal pseudo-obstruction (CIPO) related to visceral myopathies. Most cases are diagnosed at an early age or in childhood with only a few cases reported in adults. CASE REPORT We report a case of isolated hypoganglionosis of the rectum and sigmoid presenting as an emergency with acute intestinal obstruction in a 20-year-old male patient...
May 14, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29752552/collagen-vi-is-required-for-the-structural-and-functional-integrity-of-the-neuromuscular-junction
#3
Matilde Cescon, Ilaria Gregorio, Nane Eiber, Doriana Borgia, Aurora Fusto, Patrizia Sabatelli, Michele Scorzeto, Aram Megighian, Elena Pegoraro, Said Hashemolhosseini, Paolo Bonaldo
The synaptic cleft of the neuromuscular junction (NMJ) consists of a highly specialized extracellular matrix (ECM) involved in synapse maturation, in the juxtaposition of pre- to post-synaptic areas, and in ensuring proper synaptic transmission. Key components of synaptic ECM, such as collagen IV, perlecan and biglycan, are binding partners of one of the most abundant ECM protein of skeletal muscle, collagen VI (ColVI), previously never linked to NMJ. Here, we demonstrate that ColVI is itself a component of this specialized ECM and that it is required for the structural and functional integrity of NMJs...
May 11, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29731279/a-novel-acta1-mutation-causing-progressive-facioscapuloperoneal-myopathy-in-an-adult
#4
Justin C Kao, Teerin Liewluck, Margherita Milone
We report a 58-year-old woman with slowly progressive facio-scapulo-peroneal muscle weakness due to congenital nemaline myopathy (NM) caused by a novel ACTA1 mutation (c.118A>G, p.Met271Val). In adult patients, congenital NM should be distinguished from sporadic late-onset nemaline myopathy (SLONM), which is a treatable acquired muscle disease often associated with monoclonal gammopathy or HIV infection. Both congenital NM and SLONM are characterized by the presence of nemaline rods in muscle. The patient's clinical history of difficulty running since childhood and weakness in other family members favored a congenital NM...
May 3, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29726018/hitherto-unknown-detailed-muscle-anatomy-in-an-8-week-old-embryo
#5
Moritz V Warmbrunn, Bernadette S de Bakker, Jaco Hagoort, Pauline B Alefs-de Bakker, Roelof-Jan Oostra
Congenital muscle diseases, such as myopathies or dystrophies, occur relatively frequently, with estimated incidences of up to 4.7 per 100 000 newborns. To diagnose congenital diseases in the early stages of pregnancy, and to interpret the results of increasingly advanced in utero imaging techniques, a profound knowledge of normal human morphological development of the locomotor system and the nervous system is necessary. Muscular development, however, is an often neglected topic or is only described in a general way in embryology textbooks and papers...
May 3, 2018: Journal of Anatomy
https://www.readbyqxmd.com/read/29699707/anaesthetic-management-of-a-paediatric-patient-with-congenital-fibre-type-disproportion-myopathy
#6
F Buisán, O de la Varga, M Flores, J Sánchez-Ruano
Congenital fibre type disproportion (CFTD) is a rare type of myopathy that is characterised by muscle weakness and hypotonia during childhood. Clinical features include motor delay, feeding difficulties, limb weakness, joint contractures, and scoliosis. A report is presented of the anaesthetic management of a 3-year-old girl with CFTD myopathy associated with a mutation of the TPM3 gene, scheduled for adenotonsillectomy because of obstructive sleep apnoea hypopnoea syndrome (OSAHS). The main concerns were the possible susceptibility to malignant hyperthermia, the risk of anaesthesia-induced rhabdomyolysis, a greater sensitivity to non-depolarising muscle relaxants, and the presence of OSAHS...
April 23, 2018: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/29687901/thick-filament-protein-network-functions-and-disease-association
#7
Li Wang, Janelle Geist, Alyssa Grogan, Li-Yen R Hu, Aikaterini Kontrogianni-Konstantopoulos
Sarcomeres consist of highly ordered arrays of thick myosin and thin actin filaments along with accessory proteins. Thick filaments occupy the center of sarcomeres where they partially overlap with thin filaments. The sliding of thick filaments past thin filaments is a highly regulated process that occurs in an ATP-dependent manner driving muscle contraction. In addition to myosin that makes up the backbone of the thick filament, four other proteins which are intimately bound to the thick filament, myosin binding protein-C, titin, myomesin, and obscurin play important structural and regulatory roles...
March 13, 2018: Comprehensive Physiology
https://www.readbyqxmd.com/read/29669168/characterization-of-congenital-myopathies-at-a-korean-neuromuscular-center
#8
Young-Eun Park, Jin-Hong Shin, Hyang-Sook Kim, Chang-Hoon Lee, Dae-Seong Kim
INTRODUCTION: Congenital myopathies are muscle diseases characterized by specific histopathological features, generalized hypotonia from birth, and perinatal complications, although some cases develop during childhood or rarely even in adulthood. We undertook the study to characterize congenital myopathies among patients registered at our institution. METHODS: Clinical, histopathological and genetic features were evaluated in 34 patients recruited for this study...
April 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29629541/clinical-and-pathologic-findings-of-korean-patients-with-ryr1-related-congenital-myopathy
#9
Ha Neul Jeong, Hyung Jun Park, Jung Hwan Lee, Ha Young Shin, Se Hoon Kim, Seung Min Kim, Young Chul Choi
BACKGROUND AND PURPOSE: This study was designed to investigate clinical and pathologic characteristics of five Korean patients with RYR1-related congenital myopathy (CM). METHODS: Five patients from unrelated families were diagnosed with RYR1-related CM via direct or targeted sequencing of RYR1. Their clinical, mutational, and pathologic findings were then analyzed. RESULTS: Seven different mutations were identified, including two novel mutations: c...
January 2018: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29614691/novel-speg-mutations-in-congenital-myopathy-without-centralized-nuclei
#10
Xavière Lornage, Pascal Sabouraud, Béatrice Lannes, Dominique Gaillard, Raphaël Schneider, Jean-François Deleuze, Anne Boland, Julie Thompson, Johann Böhm, Valérie Biancalana, Jocelyn Laporte
Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently reported in patients with centronuclear myopathy (CNM) associated in most cases with dilated cardiomyopathy. Here we report the identification of novel biallelic truncating SPEG mutations in a patient with moderate congenital myopathy without clinical and histological hallmarks of CNM and without cardiomyopathy...
March 26, 2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29605429/dysfunction-of-nav1-4-a-skeletal-muscle-voltage-gated-sodium-channel-in-sudden-infant-death-syndrome-a-case-control-study
#11
Roope Männikkö, Leonie Wong, David J Tester, Michael G Thor, Richa Sud, Dimitri M Kullmann, Mary G Sweeney, Costin Leu, Sanjay M Sisodiya, David R FitzPatrick, Margaret J Evans, Iona J M Jeffrey, Jacob Tfelt-Hansen, Marta C Cohen, Peter J Fleming, Amie Jaye, Michael A Simpson, Michael J Ackerman, Michael G Hanna, Elijah R Behr, Emma Matthews
BACKGROUND: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1.4, which is encoded by the gene SCN4A. Variants in NaV1.4 that directly alter skeletal muscle excitability can cause myotonia, periodic paralysis, congenital myopathy, and myasthenic syndrome...
March 28, 2018: Lancet
https://www.readbyqxmd.com/read/29575618/a-homozygous-ttn-gene-variant-associated-with-lethal-congenital-contracture-syndrome
#12
Elena Chervinsky, Morad Khayat, Sofia Soltsman, Hatem Habiballa, Orly Elpeleg, Stavit Shalev
Pathogenic variants in the TTN gene have been reported to cause various cardiomyopathies and a range of skeletal muscle diseases, collectively known as titinopathies. We evaluated a consanguineous family multiple members affected with a lethal congenital contracture syndrome. Using exome sequencing, we identified a homozygous c.36122delC (p. P12041Lfs*20) variant in exon 167 in the fetal IC isoform of TTN. The finding expands the phenotypes that can be caused by pathogenic variants TTN, which should be considered in lethal congenital contracture syndromes, arthrogryposis multiplex congenita, congenital myopathies, and hydrops fetalis...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29556213/novel-variants-in-individuals-with-ryr1-related-congenital-myopathies-genetic-laboratory-and-clinical-findings
#13
Joshua J Todd, Muslima S Razaqyar, Jessica W Witherspoon, Tokunbor A Lawal, Ami Mankodi, Irene C Chrismer, Carolyn Allen, Mary D Meyer, Anna Kuo, Monique S Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G Bönnemann, James J Dowling, Katherine G Meilleur
The ryanodine receptor 1-related congenital myopathies ( RYR1 -RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and respiratory involvement. Although there is currently no FDA-approved treatment for RYR1- RM, our group recently conducted the first clinical trial in this patient population (NCT02362425). This study aimed to characterize novel RYR1 variants with regard to genetic, laboratory, muscle magnetic resonance imaging (MRI), and clinical findings...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29478600/the-genetics-of-congenital-myopathies
#14
Hernan D Gonorazky, Carsten G Bönnemann, James J Dowling
Congenital myopathies are a clinically and genetically heterogeneous group of conditions that most commonly present at or around the time of birth with hypotonia, muscle weakness, and (often) respiratory distress. Historically, this group of disorders has been subclassified based on muscle histopathologic characteristics. There has been an explosion of gene discovery, and there are now at least 32 different genetic causes of disease. With this increased understanding of the genetic basis of disease has come the knowledge that the mutations in congenital myopathy genes can present with a wide variety of clinical phenotypes and can result in a broad spectrum of histopathologic findings on muscle biopsy...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29474540/speg-deficient-skeletal-muscles-exhibit-abnormal-triad-and-defective-calcium-handling
#15
Virginia Huntoon, Jeffrey J Widrick, Colline Sanchez, Samantha M Rosen, Candice Kutchukian, Siqi Cao, Christopher R Pierson, Xiaoli Liu, Mark A Perrella, Alan H Beggs, Vincent Jacquemond, Pankaj B Agrawal
Centronuclear myopathies (CNM) are a subtype of congenital myopathies (CM) characterized by skeletal muscle weakness and an increase in the number of central myonuclei. We have previously identified three CNM probands, two with associated dilated cardiomyopathy, carrying striated preferentially expressed gene (SPEG) mutations. Currently, the role of SPEG in skeletal muscle function is unclear as constitutive SPEG-deficient mice developed severe dilated cardiomyopathy and died in utero. We have generated a conditional Speg-KO mouse model and excised Speg by crosses with striated muscle-specific cre-expressing mice (MCK-Cre)...
May 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29457652/expanding-the-histopathological-spectrum-of-cfl2-related-myopathies
#16
F Fattori, C Fiorillo, C Rodolico, G Tasca, M Verardo, E Bellacchio, S Pizzi, A Ciolfi, G Fagiolari, A Lupica, P Broda, M Pedemonte, M Moggio, C Bruno, M Tartaglia, E Bertini, A D'Amico
Congenital myopathies (CMs) caused by mutation in cofilin-2 gene (CFL2) show phenotypic heterogeneity ranging from early-onset and rapid progressive forms to milder myopathy. Muscle histology is also heterogeneous showing rods and/or myofibrillar changes. Here, we report on three new cases, from two unrelated families, of severe CM related to novel homozygous or compound heterozygous loss-of-function mutations in CFL2. Peculiar histopathological changes showed nemaline bodies and thin filaments accumulations together to myofibrillar changes, which were evocative of the muscle findings observed in Cfl2-/- knockout mouse model...
June 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29457121/anesthesia-for-patients-with-ptrf-mutations-a-case-report
#17
Atsuko Hirano, Tomohiko Takada, Mariko Senda, Hidemasa Takahashi, Takeo Suzuki
Background: Polymeraze I and transcript release factor ( PTRF ) mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy. Case presentation: A 29-year-old man (height 126 cm; weight 22 kg) with a PTRF mutation was scheduled for mandibular dentigerous cystectomy. His primary symptoms were lipodystrophy, myopathy, long QT syndrome, refractory nephrosis, and abnormal lipid metabolism. Defibrillator pads were applied soon after the patient entered the operating room...
2018: JA Clinical Reports
https://www.readbyqxmd.com/read/29456480/novel-homozygous-missense-mutation-in-ryr1-leads-to-severe-congenital-ptosis-ophthalmoplegia-and-scoliosis-in-the-absence-of-myopathy
#18
Nafi Dilaver, Neda Mazaheri, Reza Maroofian, Jawaher Zeighami, Tahere Seifi, Mina Zamani, Alireza Sedaghat, Gholam Reza Shariati, Hamid Galehdari
Ryanodine receptor 1 ( RYR1 ) is an intracellular calcium receptor primarily expressed in skeletal muscle with a role in excitation contraction. Both dominant and recessive mutations in the RYR1 gene cause a range of RYR1 -related myopathies and/or susceptibility to malignant hyperthermia (MH). Recently, an atypical manifestation of ptosis, variably presenting with ophthalmoplegia, facial paralysis, and scoliosis but without significant muscle weakness, has been reported in 9 cases from 4 families with bialleic variants in RYR1 ...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29451848/mr-imaging-of-atraumatic-muscle-disorders
#19
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...
March 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29435569/interpreting-genetic-variants-in-titin-in-patients-with-muscle-disorders
#20
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
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