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Revue : GeneReviews® [Internet] Titre : Spinal Muscular Atrophy Type de document : Article Auteurs : Prior TW ; Leach ME ; Finanger E Année de publication : 3/12/2020 Langues : Anglais (eng) Mots-clés : amyotrophie spinale ; amyotrophie spinale proximale (type 0) ; amyotrophie spinale proximale (type I) ; amyotrophie spinale proximale (type II) ; amyotrophie spinale proximale adulte (type IV) ; amyotrophie spinale proximale liée à SMN1 ; amyotrophie spinale proximale type 3 ; article de synthèse ; classification des maladies ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; diagnostic moléculaire ; épidémiologie ; maladie du motoneurone ; maladie neuromusculaire ; prévalence ; prise en charge thérapeutique Résumé : Initial Posting: February 24, 2000; Last Revision: December 3, 2020.
Clinical characteristics.
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.
Diagnosis/testing.
The diagnosis of SMA is established in a proband with a history of motor difficulties or regression, proximal muscle weakness, reduced/absent deep tendon reflexes, evidence of motor unit disease, AND/OR by the identification of biallelic pathogenic variants in SMN1 on molecular genetic testing. Increases in SMN2 copy number often modify the phenotype.
Management.
Treatment of manifestations: Therapies targeted to the underlying disease mechanism include nusinersen (Spinraza®; an antisense oligonucleotide) for the treatment of all types of SMA and onasemnogene abeparvovec-xioi (Zolgensma®; gene replacement therapy) for the treatment of type I SMA. These targeted treatments may prevent the development or slow the progression of some features of SMA; efficacy is improved when treatment is initiated before symptom onset. It is unclear what the long-term effect of these treatments will be or if new phenotypes will arise in treated individuals.
Proactive supportive treatment by a multidisciplinary team is essential to reduce symptom severity, particularly in the most severe cases of SMA. When nutrition or dysphagia is a concern, placement of a gastrostomy tube early in the course of the disease is appropriate. Standard therapy for gastroesophageal reflux disease and chronic constipation. Formal consultation and frequent follow up with a pulmonologist familiar with SMA is necessary. As respiratory function deteriorates, tracheotomy or noninvasive respiratory support may be offered. Surgical repair for scoliosis should be considered based on progression of the curvature, pulmonary function, and bone maturity. Surgical intervention for hip dislocation for those with pain.
Surveillance: Presymptomatic individuals require monitoring for the development of symptoms to determine appropriate timing to initiate targeted and/or supportive therapies. Multidisciplinary evaluation every six months or more frequently for weaker children is indicated to assess nutritional state, respiratory function, motor function, and orthopedic status, and to determine appropriate interventions.
Agents/circumstances to avoid: Prolonged fasting, particularly in the acutely ill infant with SMA.
Evaluation of relatives at risk: It is appropriate to determine the genetic status of younger, apparently asymptomatic sibs of an affected individual in order to identify as early as possible those who would benefit from prompt initiation of targeted treatment.
Genetic counseling.
SMA is inherited in an autosomal recessive manner. Each pregnancy of a couple who have had a child with SMA has an approximately 25% chance of producing an affected child, an approximately 50% chance of producing an asymptomatic carrier, and an approximately 25% chance of producing an unaffected child who is not a carrier. These recurrence risks deviate slightly from the norm for autosomal recessive inheritance because about 2% of affected individuals have a de novo SMN1 variant on one allele; in these instances, only one parent is a carrier of an SMN1 variant, and thus the sibs are not at increased risk for SMA. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the diagnosis of SMA has been confirmed by molecular genetic testing in an affected family member.Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301526 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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The 2021 version of the gene table of neuromuscular disorders (nuclear genome) : JOURNAL PRE-PROOF
Neuromuscular disorders : NMD, 2020, 30, 12, p 1008
Revue : Neuromuscular disorders : NMD, 30, 12 Titre : The 2021 version of the gene table of neuromuscular disorders (nuclear genome) : JOURNAL PRE-PROOF Type de document : Article Editeur : England Année de publication : 11/2020 Pages : p 1008 Langues : Anglais (eng) Mots-clés : article de synthèse ; classification des maladies ; gène ; hérédité ; maladie neuromusculaire Pubmed / DOI : Pubmed : 33257164 / DOI : 10.1016/j.nmd.2020.11.009
N° Profil MNM : 2019121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31791870 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
Revue : StatPearls [Internet] Titre : Myotonia Type de document : Article Auteurs : Roberts K ; Kentris M Editeur : Treasure Island (FL) Année de publication : 30/06/2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; classification des maladies ; diagnostic ; diagnostic différentiel ; dystrophie myotonique ; maladie neuromusculaire ; myotonie non dystrophique ; paralysie périodique ; prévalence ; prise en charge thérapeutique Lien associé : Texte complet disponible en accès libre sur Bookshelf StatPearls Pubmed / DOI : Pubmed : 32644698 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32644698 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
Revue : StatPearls [Internet] Titre : Glycogen Storage Disease Type de document : Article Auteurs : Stone WL ; Basit H ; Adil A Année de publication : 24/06/2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; classification des maladies ; description de la maladie ; diagnostic différentiel ; glycogénose ; incidence ; maladie métabolique Lien associé : Texte complet disponible en accès libre sur Bookshelf StatPearls Pubmed / DOI : Pubmed : 29083788 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29083788 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Avancées dans les myopathies des ceintures
Myoinfo (AFM-Téléthon), Urtizberea JA, Lorain S
Avancées de la recherche, Savoir & Comprendre, 2020, 64 p
Revue : Avancées de la recherche Titre : Avancées dans les myopathies des ceintures Type de document : Publication AFM Auteurs : Myoinfo (AFM-Téléthon), Auteur ; Urtizberea JA, Validateur ; Lorain S, Validateur Editeur : AFM-TELETHON Année de publication : 06/2020 Collection : Savoir & Comprendre Pages : 64 p Langues : Français (fre) Mots-clés : avancée de la recherche ; classification des maladies ; description de la maladie ; diagnostic ; dystrophie musculaire ; dystrophie musculaire des ceintures ; épidémiologie ; essai clinique ; étude observationnelle ; exercice musculaire ; maladie neuromusculaire ; physiopathologie ; prévalence ; recherche thérapeutique ; thérapie génique Résumé : Les myopathies ou dystrophies musculaires des ceintures (LGMD pour Limb Girdle Muscular Dystrophy) constituent un groupe hétérogène de maladies musculaires rares d’origine génétique. Elles se manifestent par un déficit et une atrophie des muscles du bassin (ceinture pelvienne) et des épaules (ceinture scapulaire). Les manifestations de la maladie sont très variables, allant de formes caractérisées par une simple fatigabilité jusqu’à des formes entraînant la perte de la marche, avec ou sans complications cardiaque et/ou respiratoire ...
Ce document, publié à l’occasion de l’Assemblée Générale de l’AFM-Téléthon 2020 présente les actualités de l’année écoulée concernant la recherche dans les myopathies des ceintures : colloques internationaux, études ou essais cliniques en cours, publications scientifiques et médicales.
> dystrophies musculaires des ceintures
> LGMD (limb girdle muscular dystrophy)
> calpaïnopathie
> dysferlinopathie
> sarcoglycanopathie
Lien associé : Site Internet de la Filière de santé maladies rares neuromusculaires FILNEMUS
Site Internet de l'organisation internationale "Jain Foundation"
Site Internet "The Speak Foundation"
Site Internet EURORDIS, Rare Diseases Europe
Site Internet de l'organisation internationale "European Neuromuscular Centre"
Site Internet du réseau international dédié aux maladies neuromusculaires « TREAT-NMD »
Site Internet AFM-TELETHONDocuments numériques
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aV20_LGMD_not70386_juin2020Adobe Acrobat PDFAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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A Clinically and Biologically Based Subclassification of the Idiopathic Inflammatory Myopathies Using Machine Learning
Eng SWM, Olazagasti JM, Goldenberg A, et al.
ACR open rheumatology, 2020
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Inflammatory muscle disease - An update
Baig S, Paik JJ
Best practice & research. Clinical rheumatology, 2020
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Anti-RNP antibodies delineate a subgroup of myositis: A systematic retrospective study on 46 patients
Wesner N, Uruha A, Suzuki S, et al.
Autoimmunity reviews, 2020
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The International Classification of Functioning, Disability and Health-Children and Youth as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study
Trabacca A, Lucarelli E, Pacifico R, et al.
European journal of physical and rehabilitation medicine, 2020
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The Limb-Girdle Muscular Dystrophies
Wicklund MP
Continuum (Minneapolis, Minn.), 2019, 25, 6, p 1599
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The 2020 version of the gene table of neuromuscular disorders (nuclear genome)
Benarroch L, Bonne G, Rivier F, et al.
Neuromuscular disorders : NMD, 2019, 29, 12, p 980
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Performance of the new EULAR/ACR classification criteria for idiopathic inflammatory myopathies (IIM) in a large monocentric IIM cohort
Barsotti S, Dastmalchi M, Notarnicola A, et al.
Seminars in arthritis and rheumatism, 2019
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Reclassification of Korean patients with polymyositis and dermatomyositis based on the Bohan and Peter criteria by the 2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies
Yoo J, Ahn SS, Jung SM, et al.
The Korean journal of internal medicine, 2019
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Dermatomyosites - Nouveaux anticorps, nouvelle classification : Dermatomyositis: new antibodies, new classification
Bolko L, Gitiaux C, Allenbach Y
Les Cahiers de Myologie, 2019, 35, HS2, p 18
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Muscular dystrophies
Mercuri E, Bonnemann CG, Muntoni F
Lancet (London, England), 2019, 394, 10213, p 2025
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239th ENMC International Workshop: Classification of dermatomyositis, Amsterdam, the Netherlands, 14-16 December 2018
Mammen AL, Allenbach Y, Stenzel W, et al.
Neuromuscular disorders : NMD, 2019
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External Validation and Evaluation of Adding MRI or Extended Myositis Antibody Panel to the 2017 EULAR/ACR Myositis Classification Criteria
Luu Q, Day J, Hall A, et al.
ACR open rheumatology, 2019, 1, 7, p 462
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Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency : Synonyms: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, VLCAD Deficiency
Leslie ND, Valencia CA, Strauss AW, et al.
GeneReviews® [Internet], 2019
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Carnitine Palmitoyltransferase II Deficiency : Synonym: CPT II Deficiency
Wieser T
GeneReviews® [Internet], 2019
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Zoom sur ... la recherche dans la maladie de Steinert
Myoinfo (AFM-Téléthon), Gourdon G, Bassez G, et al.
Zoom sur ..., Savoir & Comprendre, 2019, 51
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Phosphorylase Kinase Deficiency : Synonyms: Glycogen Storage Disease Type IX, GSDIX, PhK Deficiency, Phosphorylase b Kinase Deficiency
Herbert M, Goldstein JL, Rehder C, et al.
GeneReviews® [Internet], 2018
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