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119 results

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Quoted phrase not found in phrase index: "Congenital myotonia, autosomal dominant form"
Page 1
Guidelines on clinical presentation and management of nondystrophic myotonias.
Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM. Stunnenberg BC, et al. Muscle Nerve. 2020 Oct;62(4):430-444. doi: 10.1002/mus.26887. Epub 2020 May 27. Muscle Nerve. 2020. PMID: 32270509 Free PMC article. Review.
The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after volunt …
The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-fu …
Phenytoin revisited.
Finkel MJ. Finkel MJ. Clin Ther. 1984;6(5):577-91. Clin Ther. 1984. PMID: 6383610 Review.
This review revealed that, on the basis of controlled studies, phenytoin is probably useful in the continuous muscle fiber activity syndrome, myotonic muscular dystrophy, and myotonia congenita. In addition, phenytoin appears to be potentially useful in recessive dy …
This review revealed that, on the basis of controlled studies, phenytoin is probably useful in the continuous muscle fiber activity syndrome …
Current and future therapeutic approaches to the congenital myopathies.
Jungbluth H, Ochala J, Treves S, Gautel M. Jungbluth H, et al. Semin Cell Dev Biol. 2017 Apr;64:191-200. doi: 10.1016/j.semcdb.2016.08.004. Epub 2016 Aug 8. Semin Cell Dev Biol. 2017. PMID: 27515125 Review.
Based on these findings, specific therapies are currently being developed, or are already approaching the clinical trial stage. Despite undeniable progress, therapy development faces considerable challenges, considering the rarity and diversity of specific condition …
Based on these findings, specific therapies are currently being developed, or are already approaching the clinical trial stage …
Drug treatment for myotonia.
Trip J, Drost G, van Engelen BG, Faber CG. Trip J, et al. Cochrane Database Syst Rev. 2006 Jan 25;2006(1):CD004762. doi: 10.1002/14651858.CD004762.pub2. Cochrane Database Syst Rev. 2006. PMID: 16437496 Free PMC article. Review.
OBJECTIVES: To consider the evidence from randomised controlled trials on the efficacy and tolerability of drug treatment in patients with clinical myotonia due to a myotonic disorder. ...The primary outcome measure was:reduced clinical myotonia …
OBJECTIVES: To consider the evidence from randomised controlled trials on the efficacy and tolerability of drug treatment in patients …
Non-dystrophic myotonia: 2-year clinical and patient reported outcomes.
Fullam TR, Chandrashekhar S, Farmakidis C, Jawdat O, Pasnoor M, Dimachkie MM, Statland JM; CINCH Consortium. Fullam TR, et al. Muscle Nerve. 2022 Aug;66(2):148-158. doi: 10.1002/mus.27649. Epub 2022 Jun 16. Muscle Nerve. 2022. PMID: 35644941 Free PMC article.
RESULTS: Muscle stiffness was the most frequent symptom over time (54.7%-64.7%). Eyelid myotonia and paradoxical handgrip/eyelid myotonia were more frequent in SCN4A. ...INQoL showed higher impact for SCN4A and DM2 with scores stable over time. DISCUSSION: Symptom f …
RESULTS: Muscle stiffness was the most frequent symptom over time (54.7%-64.7%). Eyelid myotonia and paradoxical handgrip/eyelid m …
Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now?
Adaikina A, Hofman PL, O'Grady GL, Gusso S. Adaikina A, et al. Pediatr Neurol. 2020 Mar;104:13-18. doi: 10.1016/j.pediatrneurol.2019.10.008. Epub 2019 Nov 29. Pediatr Neurol. 2020. PMID: 31926608 Free article. Review.
This lack of empirical evidence is particularly problematic given the fact that inappropriate exercise modes can potentially cause muscle damage in patients with congenital myopathy. In this article, we discuss the rationale behind the incorporation of two types of physica …
This lack of empirical evidence is particularly problematic given the fact that inappropriate exercise modes can potentially cause muscle da …
Acetazolamide-responsive myotonia congenita.
Trudell RG, Kaiser KK, Griggs RC. Trudell RG, et al. Neurology. 1987 Mar;37(3):488-91. doi: 10.1212/wnl.37.3.488. Neurology. 1987. PMID: 3822145
We have studied 14 patients from a kindred with an autosomal dominant form of myotonia, with features differing from most cases of autosomal dominant or recessive myotonia congenita. ...Muscle biopsies showed the presence of …
We have studied 14 patients from a kindred with an autosomal dominant form of myotonia, with features differing …
Spontaneous electrical activity: an overview.
Buchthal F. Buchthal F. Muscle Nerve. 1982;5(9S):S52-9. Muscle Nerve. 1982. PMID: 6763149 Review.
Responses from one or a few fibers are those arising in the end-plate zone of normal muscle and the electrical activity is associated with denervation and myotonia. The motor unit-like activity may either be discharged at randomly varying intervals, as in fasciculat …
Responses from one or a few fibers are those arising in the end-plate zone of normal muscle and the electrical activity is associated with d …
Effects of AFQ056 on language learning in fragile X syndrome.
Berry-Kravis E, Abbeduto L, Hagerman R, Coffey CS, Cudkowicz M, Erickson CA, McDuffie A, Hessl D, Ethridge L, Tassone F, Kaufmann WE, Friedmann K, Bullard L, Hoffmann A, Veenstra-VanderWeele J, Staley K, Klements D, Moshinsky M, Harkey B, Long J, Fedler J, Klingner E, Ecklund D, Costigan M, Huff T, Pearson B; NeuroNEXT FXLEARN Investigators. Berry-Kravis E, et al. J Clin Invest. 2023 Aug 31;134(5):e171723. doi: 10.1172/JCI171723. J Clin Invest. 2023. PMID: 37651202 Free PMC article. Clinical Trial.
BACKGROUNDFXLEARN, the first-ever large multisite trial of effects of disease-targeted pharmacotherapy on learning, was designed to explore a paradigm for measuring effects of mechanism-targeted treatment in fragile X syndrome (FXS). ...Secondary outcomes were objective pe …
BACKGROUNDFXLEARN, the first-ever large multisite trial of effects of disease-targeted pharmacotherapy on learning, was designed to e …
Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.
Suetterlin K, Männikkö R, Hanna MG. Suetterlin K, et al. Curr Opin Neurol. 2014 Oct;27(5):583-90. doi: 10.1097/WCO.0000000000000127. Curr Opin Neurol. 2014. PMID: 25188014 Review.
Advances in diagnostic tools include the use of MRI and muscle velocity recovery cycles to evaluate myotonia congenita patients. Specific neonatal presentations of sodium channel myotonia are now well documented. An international multicentre placebo-controlle …
Advances in diagnostic tools include the use of MRI and muscle velocity recovery cycles to evaluate myotonia congenita patient …
119 results