MYOBASE LE PORTAIL DOCUMENTAIRE SUR LES MALADIES NEUROMUSCULAIRES

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Fibrodysplasia Ossificans Progressiva : Synonyms: Myositis Ossificans Progressiva, Progressive Ossifying Myositis

Akesson LS, Savarirayan R
GeneReviews® [Internet], 2020

Notice complète Revue : GeneReviews® [Internet] Titre : Fibrodysplasia Ossificans Progressiva : Synonyms: Myositis Ossificans Progressiva, Progressive Ossifying Myositis Type de document : Article Auteurs : Akesson LS ; Savarirayan R Année de publication : 2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; épidémiologie ; étiologie ; fibrodysplasie ossifiante progressive ; gène ACVR1 ; génétique moléculaire ; physiopathologie ; prévalence ; prise en charge thérapeutique Résumé : Clinical characteristics. Fibrodysplasia ossificans progressiva (FOP) is characterized by congenital bilateral hallux valgus malformations and early-onset heterotopic ossification, which may be spontaneous or precipitated by trauma including intramuscular vaccinations. Painful, recurrent soft-tissue swellings (flare-ups) may precede localized heterotopic ossification. Heterotopic ossification can occur at any location, but typically affects regions in close proximity to the axial skeleton in the early/mild stages, before progressing to the appendicular skeleton. This can lead to restriction of movement due to ossification impacting joint mobility. Problems with swallowing and speaking can occur with ossification affecting the jaw, head, and neck, and restriction of the airway and breathing may lead to thoracic insufficiency syndrome. Diagnosis/testing. The diagnosis of FOP is established in a proband with heterotopic ossification, hallux valgus malformations, and/or a heterozygous pathogenic variant in ACVR1 identified by molecular genetic testing. Management. Treatment of manifestations: Avoid intramuscular injections and arterial punctures. Fall prevention using household safety measures and ambulatory devices; use of protective headgear to reduce sequelae of falls; prompt medical attention after a fall with consideration of prophylactic corticosteroid use; management by a dietician for those with feeding difficulties; preventative dental care with precautions to avoid injury; orthodontic treatment with a practitioner with experience in FOP; consultation with an expert anesthetist with experience in FOP prior to elective anesthesia; use of singing, swimming, incentive spirometry; positive pressure ventilation when indicated for mechanical respiratory difficulties including thoracic insufficiency syndrome; anti-inflammatory medications for flare-ups; consider corticosteroids for flare-ups of the submandibular region or jaw, major joints, after significant soft-tissue trauma, and for prophylaxis prior to dental and surgical procedures. Conservative management for scoliosis. Consider bisphosphonates for corticosteroid-induced osteopenia; fractures should be managed by an expert in FOP; hearing aids and appliances for conductive hearing impairment; encourage hydration and avoidance of high protein and high salt intake to prevent renal stones; occupational therapy; warm water hydrotherapy for mobility difficulties; lower extremity elevation, DVT prophylaxis, and supportive stockings while avoiding traumatic compression for lymphedema. Psychological support. Surveillance: Annual clinical evaluation including evaluation for scoliosis with orthopedist or geneticist familiar with FOP; annual nutrition evaluation and examination for jaw ankylosis; baseline pulmonary function assessment, sleep assessment, and echocardiogram before age ten years followed by annual clinical evaluation of respiratory status; annual evaluation for fracture risk; audiology assessment every 12 to 24 months; annual assessment for signs and symptoms of nephrocalcinosis, gastrointestinal complications, and skin integrity; dental examinations every six months; Doppler ultrasound if DVT is suspected. Agents/circumstances to avoid: Avoid procedures that predispose to soft-tissue injury, including intramuscular injections such as vaccinations, arterial punctures, dental procedures, procedures related to anesthesia, biopsies, removal of heterotopic bone, and all nonemergent surgical procedures. Avoid contact sports, overstretching of soft tissues, muscle fatigue, and passive range of motion. Avoid falls. In individuals with thoracic insufficiency syndrome, avoid supplemental oxygen, which can suppress respiratory drive. Genetic counseling. FOP is inherited in an autosomal dominant manner. The majority of affected individuals represent simplex cases (i.e., a single occurrence in a family) resulting from a de novo ACVR1 pathogenic variant. Rarely, an individual diagnosed with FOP has an affected parent. If a parent of the proband is affected and/or is known to have the pathogenic variant identified in the proband, the risk to sibs is 50%. Once the ACVR1 pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible. Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® [Internet] Pubmed / DOI : Pubmed : 32525643

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Activin A amplifies dysregulated BMP signaling and induces chondro-osseous differentiation of primary connective tissue progenitor cells in patients with fibrodysplasia ossificans progressiva (FOP)

Wang H, Shore EM, Pignolo RJ, et al.
Bone, 2018, 109, p 218

Notice complète Revue : Bone, 109 Titre : Activin A amplifies dysregulated BMP signaling and induces chondro-osseous differentiation of primary connective tissue progenitor cells in patients with fibrodysplasia ossificans progressiva (FOP) Type de document : Article Auteurs : Wang H, Auteur ; Shore EM ; Pignolo RJ ; Kaplan FS Année de publication : 2018 Pages : p 218 Langues : Anglais (eng) Mots-clés : activine ; BMP ; BMP4 ; culture cellulaire ; fibrodysplasie ossifiante progressive ; gène ACVR1 ; mutation génétique ; ossification hétérotopique ; physiopathologie ; récepteur ACVR1 ; signalisation intercellulaire Pubmed / DOI : DOI : 10.1016/j.bone.2017.11.014 / Pubmed : 29170109 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29170109

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The obligatory role of Activin A in the formation of heterotopic bone in Fibrodysplasia Ossificans Progressiva

Alessi Wolken DM, Idone V, Hatsell SJ, et al.
Bone, 2018, 109, p 210

Notice complète Revue : Bone, 109 Titre : The obligatory role of Activin A in the formation of heterotopic bone in Fibrodysplasia Ossificans Progressiva Type de document : Article Auteurs : Alessi Wolken DM, Auteur ; Idone V ; Hatsell SJ ; Yu PB ; Economides AN Année de publication : 2018 Pages : p 210 Langues : Anglais (eng) Mots-clés : activine ; ACVR1 (maladie neuromusculaire liée à) ; fibrodysplasie ossifiante progressive ; gène ACVR1 ; mutation génétique ; ossification hétérotopique ; physiopathologie ; récepteur ACVR1 ; souris modèle Pubmed / DOI : DOI : 10.1016/j.bone.2017.06.011 / Pubmed : 28629737 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/28629737

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Animal models of fibrodysplasia ossificans progressiva

LaBonty M, Yelick PC
Developmental dynamics : an official publication of the American Association of Anatomists, 2018, 247, 2, p 279

Notice complète Revue : Developmental dynamics : an official publication of the American Association of Anatomists, 247, 2 Titre : Animal models of fibrodysplasia ossificans progressiva Type de document : Article Auteurs : LaBonty M, Auteur ; Yelick PC Année de publication : 2018 Pages : p 279 Langues : Anglais (eng) Mots-clés : fibrodysplasie ossifiante progressive ; gène ACVR1 ; modèle animal ; ossification hétérotopique ; physiopathologie ; poisson zèbre ; récepteur ACVR1 ; souris modèle Pubmed / DOI : DOI : 10.1002/dvdy.24606 / Pubmed : 29139166 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29139166

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Fibrodysplasia ossificans progressiva in China

She D, Zhang K
Bone, 2017

Notice complète Revue : Bone Titre : Fibrodysplasia ossificans progressiva in China Type de document : Article Auteurs : She D, Auteur ; Zhang K Année de publication : 22/11/2017 Langues : Anglais (eng) Mots-clés : article de synthèse ; Chine ; diagnostic différentiel ; épidémiologie ; erreur diagnostique ; fibrodysplasie ossifiante progressive ; gène ACVR1 ; ossification hétérotopique Pubmed / DOI : DOI : 10.1016/j.bone.2017.11.016 / Pubmed : 29175272 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29175272

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The Rare Bone Disease Working Group : report from the 2016 American Society for Bone and Mineral Research Annual Meeting

Drake MT, Collins MT, Hsiao EC
Bone, 2017, 80-84

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Hard targets for a second skeleton: therapeutic horizons for fibrodysplasia ossificans progressiva (FOP)

Kaplan FS, Pignolo RJ, Al Mukaddam MM, et al.
Expert opinion on orphan drugs, 2017, 5, 4, p 291

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A Zebrafish Model of Human Fibrodysplasia Ossificans Progressiva

LaBonty M, Pray N, Yelick PC
Zebrafish, 2017, 14, 4, p 293

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A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia

Rafati M, Mohamadhashem F, Hoseini A, et al.
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Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva

Severino M, Bertamino M, Tortora D, et al.
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Classical and Atypical Fibrodysplasia Ossificans Progressiva in India.

Madhuri V, Santhanam M, Sugumar LK, et al.
Annals of human genetics, 2015, 79, 4, p. 245-52

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Induced Pluripotent Stem Cells to Model Human Fibrodysplasia Ossificans Progressiva

Cai J, Orlova VV, Cai X, et al.
Stem cell reports, 2015, 5, 6, p 963

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Mutation Detection in Activin A Receptor, Type I (ACVR1) Gene in Fibrodysplasia Ossificans Progressiva in An Iranian Family.

Morovvati Z, Morovvati S, Alishiri G, et al.
Cell journal, 2014, 16, 1, p. 91-94

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ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva

Eresen Yazicioglu C, Karatosun V, Kizildag S, et al.
Gene, 2013, 515, 2, p. 444-446

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Clinically applicable antianginal agents suppress osteoblastic transformation of myogenic cells and heterotopic ossifications in mice

Yamamoto R, Matsushita M, Kitoh H, et al.
Journal of bone and mineral metabolism, 2013, 31, 1, p. 26-33

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Antisense-oligonucleotide mediated exon skipping in activin-receptor-like kinase 2 : inhibiting the receptor that is overactive in fibrodysplasia ossificans progressiva

Shi S, Cai J, de Gorter DJJ, et al.
PLoS ONE, 2013, 8, 7, e69096, 7 p.

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Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects

Morales-Piga A, Bachiller-Corral J, Trujillo-Tiebas MJ, et al.
Bone, 2012, 51, 4, p. 748-755

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Fibrodysplasia ossificans progressiva : mechanisms and models of skeletal metamorphosis

Kaplan FS, Chakkalakal SA, Shore EM
Disease models and mechanisms, 2012, 5, 6, p. 756-762

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ACVR1, a therapeutic target of fibrodysplasia ossificans progressiva, is negatively regulated by miR-148a

Song H, Wang Q, Wen J, et al.
International Journal of molecular sciences, 2012, 13, 2, p. 2063-2077

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The role of the 3'UTR region in the regulation of the ACVR1/Alk-2 gene expression

Mura M, Cappato S, Giacopelli F, et al.
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Fibrodysplasia ossificans progressiva (FOP) : a human genetic disorder of extra-skeletal bone formation, or - how does one tissue become another?

Shore EM
Wiley Interdisciplinary Reviews. Developmental Biology, 2012, 1, 1, p. 153-165

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Radiation therapy in treatment of fibrodysplasia ossificans progressiva: a case report and review of the literature

Soldic Z, Murgic J, Radic J, et al.
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Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects

Pignolo RJ, Shore EM, Kaplan FS
Orphanet journal of rare diseases, 2011, 6, 1, 80, p. 1-6

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Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients

Carvalho DR, Navarro MMM, Martins BJAF, et al.
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ALK2 R206H mutation linked to fibrodysplasia ossificans progressiva confers constitutive activity to the BMP type I receptor and sensitizes mesenchymal cells to BMP-induced osteoblast differentiation and bone formation

van Dinther M, Visser N, de Gorter DJJ, et al.
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