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Salih Myopathy : Synonym: Early-Onset Myopathy with Fatal Cardiomyopathy
Hackman P, Savarese M, Carmignac V, et al.
GeneReviews® [Internet], 2019
Revue : GeneReviews® [Internet] Titre : Salih Myopathy : Synonym: Early-Onset Myopathy with Fatal Cardiomyopathy Type de document : Article Auteurs : Hackman P ; Savarese M ; Carmignac V ; Udd B ; Salih MA Année de publication : 11/04/2019 Langues : Anglais (eng) Mots-clés : article de synthèse ; cardiomyopathie dilatée ; conseil génétique ; description de la maladie ; diagnostic ; diagnostic différentiel ; dystrophie musculaire congénitale ; examen clinique ; gène TTN ; génétique moléculaire ; histopathologie musculaire ; prévention des complications ; prise en charge thérapeutique Résumé : Initial Posting: January 12, 2012; Last Update: April 11, 2019.
Clinical characteristics.
Salih myopathy is characterized by muscle weakness (manifest during the neonatal period or in early infancy) and delayed motor development; children acquire independent walking between ages 20 months and four years. In the first decade of life, global motor performance is stable or tends to improve. Moderate joint and neck contractures and spinal rigidity may manifest in the first decade but become more obvious in the second decade. Scoliosis develops after age 11 years. Cardiac dysfunction manifests between ages five and 16 years, progresses rapidly, and leads to death between ages eight and 20 years, usually from heart rhythm disturbances.
Diagnosis/testing.
The diagnosis is established in a proband by identification of biallelic pathogenic variants in the first three M-line-encoding exons (Mex1, Mex2, and Mex3) of TTN, the only gene in which pathogenic variants are known to cause Salih myopathy.
Management.
Treatment of manifestations: Care, best provided by a multidisciplinary team, includes stretching exercises and physical therapy; assistive mechanical devices for sitting and ambulation as needed; and appropriate technical support in educational settings. Treat heart failure and cardiac arrhythmia as soon as they are evident. Cardiac transplantation may be considered for progressive dilated cardiomyopathy and heart failure refractory to medical therapy.
Prevention of secondary complications: Annual influenza vaccine and other respiratory infection-related immunizations are advised. Aggressive treatment of lower-respiratory tract infections.
Surveillance: Electrocardiogram (ECG), 24-hour Holter ECG, and echocardiogram every six months beginning at age five years. Annual evaluation of respiratory function beginning at age 10 years. Clinical examination and x-ray as needed for orthopedic complications (e.g., foot deformity, joint contractures, spinal deformity).
Agents/circumstances to avoid: Ibuprofen in those with congestive heart failure.
Genetic counseling.
Salih myopathy is inherited in an autosomal recessive manner. The parents of an affected child are obligate heterozygotes (i.e., carriers of one pathogenic variant) and are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if the pathogenic variants in the family have been identified.Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 22238790 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
Savarese M, Maggi L, Vihola A, et al.
JAMA Neurology, 2018, 75, 5, p 557
Revue : JAMA Neurology, 75, 5 Titre : Interpreting Genetic Variants in Titin in Patients With Muscle Disorders Type de document : Article Auteurs : Savarese M, Auteur ; Maggi L ; Vihola A ; Jonson PH ; Tasca G ; Ruggiero L ; Bello L ; Magri F ; Giugliano T ; Torella A ; Evila A ; Di Fruscio G ; Vanakker O ; Gibertini S ; Vercelli L ; Ruggieri A ; Antozzi C ; Luque H ; Janssens S ; Pasanisi MB ; Fiorillo C ; Raimondi M ; Ergoli M ; Politano L ; Bruno C ; Rubegni A ; Pane M ; Santorelli FM ; Minetti C ; Angelini C ; De Bleecker J ; Moggio M ; Mongini T ; Comi GP ; Santoro L ; Mercuri E ; Pegoraro E ; Mora M ; Hackman P ; Udd B ; Nigro V Année de publication : 2018 Pages : p 557 Note générale : Erratum in:
Incorrect Degree. [JAMA Neurol. 2018] = "In the Original Investigation titled “Interpreting Genetic Variants in Titin in Patients With Muscle Disorders,” published online on February 12, 2018, sixth author Alessandra Ruggieri’s degree was incorrectly listed as “PhD” instead of “MSc.” This article was corrected online."
Langues : Anglais (eng) Mots-clés : analyse génétique ; diagnostic génétique ; examen clinique ; gène TTN ; mutation génétique ; titine (maladie neuromusculaire liée à) Résumé : Comment in:
Understanding Titin Variants in the Age of Next-Generation Sequencing-A Titanic Challenge. [JAMA Neurol. 2018]
Pubmed / DOI : DOI : 10.1001/jamaneurol.2017.4899 / Pubmed : 29435569
N° Profil MNM : 2018022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29435569 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough
Tasca G, Udd B
Neuromuscular disorders : NMD, 2017
Revue : Neuromuscular disorders : NMD Titre : Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough Type de document : Article Auteurs : Tasca G, Auteur ; Udd B Année de publication : 12/12/2017 Langues : Anglais (eng) Mots-clés : analyse génétique ; diagnostic différentiel ; diagnostic génétique ; examen clinique ; gène TTN ; histopathologie musculaire ; IRM ; mutation génétique ; myopathie d'Edström ; revue de la littérature ; titine ; titine (maladie neuromusculaire liée à) Pubmed / DOI : DOI : 10.1016/j.nmd.2017.12.002 / Pubmed : 29361395
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29361395 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy
Janin A, N'guyen K, Habib G, et al.
Clinical genetics, 2017, 92, 6, p 616
Revue : Clinical genetics, 92, 6 Titre : Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy Type de document : Article Auteurs : Janin A, Auteur ; N'guyen K ; Habib G ; Dauphin C ; Chanavat V ; Bouvagnet P ; Eschalier R ; Streichenberger N ; Chevalier P ; Millat G Année de publication : 2017 Pages : p 616 Langues : Anglais (eng) Mots-clés : cardiomyopathie dilatée ; diagnostic génétique ; étude observationnelle ; gène BAG3 ; gène FLNC ; gène TTN ; mutation génétique ; myopathie myofibrillaire ; physiopathologie ; séquençage de nouvelle génération Pubmed / DOI : DOI : 10.1111/cge.13043 / Pubmed : 28436997
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/28436997 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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A 'second truncation' in TTN causes early onset recessive muscular dystrophy
Harris E, Töpf A, Vihola A, et al.
Neuromuscular disorders : NMD, 2017, 27, 11, p 1009
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Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
Fernandez-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, et al.
Neuromuscular disorders : NMD, 2017, 27, 2, p 188
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Current and future therapeutic approaches to the congenital myopathies
Jungbluth H, Ochala J, Treves S, et al.
Seminars in cell & developmental biology, 2017, 64, p 191
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Myology 2016 : 5th International Congress of Myology ; Posters n° 94 to 103 - Distal myopathies / Myofibrillar myopathies
Congrès : 5th International Congress of Myology (14-18 March 2016; Centre convention, Lyon, France)
2016, p. 67-72
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Congenital myopathies: not only a paediatric topic
Jungbluth H, Voermans NC
Current opinion in neurology, 2016, 29, 5, p 642
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New aspects of myofibrillar myopathies
Kley RA, Olivé M, Schröder R
Current opinion in neurology, 2016, 29, 5, p 628
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New massive parallel sequencing approach improves the genetic characterization of congenital myopathies
Oliveira J, Gonçalves A, Taipa R, et al.
Journal of human genetics, 2016, 61, 6, p 497
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Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study
Steele HE, Harris E, Barresi R, et al.
Neurology, 2016, 87, 10, p 1031
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Corps cytoplasmiques en collier à la biopsie musculaire : rechercher une titinopathie de principe
Urtizberea JA
2015
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Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure
Uruha A, Hayashi YK, Oya Y, et al.
Journal of neurology, neurosurgery, and psychiatry, 2015, 86, 5, p 483
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A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy
de Cid R, Ben Yaou R, Roudaut C, et al.
Neurology, 2015, 85, 24, p 2126
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Titinopathies musculaires : une mutation de la titine peut en cacher une autre....
Urtizberea JA
2014
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Atypical phenotypes in titinopathies explained by second titin mutations
Evila A, Vihola A, Sarparanta J, et al.
Annals of neurology, 2014, 75, 2, p. 230-240
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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease
Chauveau C, Bonnemann CG, Julien C, et al.
Human molecular genetics, 2014, 23, 4, p. 980-991
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Hereditary myopathy with early respiratory failure: occurrence in various populations
Palmio J, Evila A, Chapon F, et al.
Journal of neurology, neurosurgery and psychiatry, 2014, 85, 3, p. 345-353
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CIS-Splicing and Translation of the Pre-Trans-Splicing Molecule Combine with Efficiency in Spliceosome-Mediated RNA Trans-Splicing
Monjaret F, Bourg N, Suel L, et al.
Molecular therapy, 2014, 22, 6, p 1176
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Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure
Izumi R, Niihori T, Aoki Y, et al.
Journal of human genetics, 2013, 58, 5, p. 259-266
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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, et al.
Neurology, 2013, 81, 14, p. 1205-1214
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