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MERRF : Synonym: Myoclonic Epilepsy Associated with Ragged Red Fibers
Velez-Bartolomei F, Lee C, Enns G
GeneReviews® [Internet], 2021
Revue : GeneReviews® [Internet] Titre : MERRF : Synonym: Myoclonic Epilepsy Associated with Ragged Red Fibers Type de document : Article Auteurs : Velez-Bartolomei F ; Lee C ; Enns G Année de publication : 07/01/2021 Langues : Anglais (eng) Mots-clés : article de synthèse ; classification des maladies ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; MERRF ; myopathie mitochondriale ; prévalence ; prise en charge thérapeutique Résumé : Initial Posting: June 3, 2003; Last Update: January 7, 2021.
Clinical characteristics.
MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized epilepsy, ataxia, weakness, exercise intolerance, and dementia. Onset can occur from childhood to adulthood, occurring after normal early development. Common findings are ptosis, hearing loss, short stature, optic atrophy, cardiomyopathy, cardiac dysrhythmias such as Wolff-Parkinson-White syndrome, and peripheral neuropathy. Pigmentary retinopathy, optic neuropathy, diabetes mellitus, and lipomatosis have been observed.
Diagnosis/testing.
A clinical diagnosis of MERRF can be established in a proband with the following four "canonic" features: myoclonus, generalized epilepsy, ataxia, and ragged red fibers (RRF) in the muscle biopsy. A molecular diagnosis is established in a proband with suggestive findings and a pathogenic variant in one of the genes associated with MERRF. The m.8344A>G pathogenic variant in the mitochondrial gene MT-TK is present in more than 80% of affected individuals with typical findings. Pathogenic variants in MT-TF, MT-TH, MT-TI, MT-TL1, MT-TP, MT-TS1, and MT-TS2 have also been described in a subset of individuals with MERRF.
Management.
Treatment of manifestations: Ubiquinol, carnitine, alpha lipoic acid, vitamin E, vitamin B complex, and creatine may be of benefit to some individuals; traditional anticonvulsant therapy per neurologist for seizures; levetiracetam or clonazepam for myoclonus; physical therapy to improve any impaired motor function; aerobic exercise; standard pharmacologic therapy for cardiac symptoms; hearing aids or cochlear implants for hearing loss; diabetes mellitus treatment per endocrinologist.
Prevention of primary manifestations: Coenzyme Q10 (50-200 mg 2-3x/day), L-carnitine (1000 mg 2-3x/day), alpha lipoic acid, vitamin E, vitamin B supplements, and creatine, often used to improve mitochondrial function, have been of modest benefit in some individuals. Doses for children should be adjusted appropriately.
Surveillance: Routine evaluations every six to 12 months initially; annual neurologic, ophthalmologic, cardiology (electrocardiogram and echocardiogram), and endocrinologic evaluations (fasting blood sugar and TSH); audiology evaluations every two to three years.
Agents/circumstances to avoid: Mitochondrial toxins (e.g., aminoglycoside antibiotics, linezolid, cigarettes, alcohol); valproic acid should be avoided in the treatment of seizures.
Pregnancy management: During pregnancy, affected or at-risk women should be monitored for diabetes mellitus and respiratory insufficiency, which may require therapeutic interventions.
Genetic counseling.
MERRF is caused by pathogenic variants in mtDNA and is transmitted by maternal inheritance. The father of a proband is not at risk of having the mtDNA pathogenic variant. The mother of a proband usually has the mtDNA pathogenic variant and may or may not have symptoms. A male with a mtDNA pathogenic variant cannot transmit the pathogenic variant to any of his offspring. A female with a mtDNA pathogenic variant (whether symptomatic or asymptomatic) transmits the pathogenic variant to all of her offspring. Prenatal testing and preimplantation genetic testing for MERRF are possible if a mtDNA pathogenic variant has been detected in the mother. However, because the mutational load in embryonic and fetal tissues sampled (i.e., amniocytes and chorionic villi) may not correspond to that of all fetal tissues and because the mutational load in tissues sampled prenatally may shift in utero or after birth as a result of random mitotic segregation, prediction of the phenotype from prenatal studies is not possible.Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301693 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Comment on: The reliability of immunoassays to detect autoantibodies in patients with myositis is dependent on autoantibody specificity
Mahler M, Malyavantham K, Fritzler MJ, et al.
Rheumatology (Oxford, England), 2021, 60, 1, e35
Revue : Rheumatology (Oxford, England), 60, 1 Titre : Comment on: The reliability of immunoassays to detect autoantibodies in patients with myositis is dependent on autoantibody specificity Type de document : Article Auteurs : Mahler M ; Malyavantham K ; Fritzler MJ ; Satoh M Editeur : England Année de publication : 05/01/2021 Pages : e35 Langues : Anglais (eng) Mots-clés : commentaire ; diagnostic ; lettre ; myopathie inflammatoire ; technique immunologique Pubmed / DOI : Pubmed : 33241412 / DOI : 10.1093/rheumatology/keaa729
N° Profil MNM : 2020121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33241412 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Comment on: The reliability of immunoassays to detect autoantibodies in patients with myositis is dependent on autoantibody specificity: reply
Tansley SL, McHugh NJ
Rheumatology (Oxford, England), 2021, 60, 1, e38
Revue : Rheumatology (Oxford, England), 60, 1 Titre : Comment on: The reliability of immunoassays to detect autoantibodies in patients with myositis is dependent on autoantibody specificity: reply Type de document : Article Auteurs : Tansley SL ; McHugh NJ Editeur : England Année de publication : 05/01/2021 Pages : e38 Langues : Anglais (eng) Mots-clés : diagnostic ; lettre ; myopathie inflammatoire ; technique immunologique Pubmed / DOI : Pubmed : 33241415 / DOI : 10.1093/rheumatology/keaa714
N° Profil MNM : 2020121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33241415 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
Revue : StatPearls [Internet] Titre : Congenital Myotonic Dystrophy Type de document : Article Auteurs : Jain A ; Al Khalili Y Année de publication : 15/12/2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; complication de la maladie ; description de la maladie ; diagnostic ; diagnostic différentiel ; dystrophie myotonique ; dystrophie myotonique de type 1 ; éducation thérapeutique du patient ; épidémiologie ; essai clinique ; incidence ; maladie neuromusculaire ; physiopathologie ; prévalence ; prise en charge thérapeutique ; pronostic Lien associé : Texte complet disponible en accès libre sur Bookshelf StatPearls Pubmed / DOI : Pubmed : 32809353 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
Revue : StatPearls [Internet] Titre : Facioscapulohumeral Muscular Dystrophy Type de document : Article Auteurs : Fecek C ; Emmady PD Editeur : Treasure Island (FL) Année de publication : 12/12/2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; complication de la maladie ; description de la maladie ; diagnostic ; diagnostic différentiel ; dystrophie musculaire ; dystrophie musculaire facio-scapulo-humérale ; éducation thérapeutique du patient ; épidémiologie ; maladie neuromusculaire ; prévalence ; prise en charge thérapeutique ; pronostic Lien associé : Texte complet disponible en accès libre sur Bookshelf StatPearls Pubmed / DOI : Pubmed : 32644454 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32644454 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)
Benarroch L, Bonne G, Rivier F, et al.
Neuromuscular disorders : NMD, 2020, 30, 12, p 1008
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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
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Oculopharyngeal Muscular Dystrophy : Synonym: OPMD
Trollet C, Boulinguiez A, Roth F, et al.
GeneReviews® [Internet], 2020
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Autosomal Dominant TRPV4 Disorders
McCray BA, Schindler A, Hoover-Fong JE, et al.
GeneReviews® [Internet], 2020
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LAMA2 Muscular Dystrophy : Synonym: Laminin α2 Chain-Deficiency
Oliveira J, Parente Freixo J, Santos M, et al.
GeneReviews® [Internet], 2020
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Hereditary Neuropathy with Liability to Pressure Palsies : Synonym: HNPP
Chrestian N
GeneReviews® [Internet], 2020
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Glycogen storage disease, Type II (Pompe Disease)
Morales JA, Anilkumar AC
StatPearls [Internet], 2020
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