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Advances and ongoing research in the treatment of autoimmune neuromuscular junction disorders.
Verschuuren JJ, Palace J, Murai H, Tannemaat MR, Kaminski HJ, Bril V. Verschuuren JJ, et al. Lancet Neurol. 2022 Feb;21(2):189-202. doi: 10.1016/S1474-4422(21)00463-4. Lancet Neurol. 2022. PMID: 35065041 Review.
Myasthenia gravis and Lambert-Eaton myasthenic syndrome are antibody-mediated autoimmune diseases of the neuromuscular junction that usually present with weakness in ocular muscles and in proximal muscles of the limb and trunk. ...Challenges in their use might occur …
Myasthenia gravis and Lambert-Eaton myasthenic syndrome are antibody-mediated autoimmune diseases of the neuromuscular junctio …
Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.
Witting N, Vissing J. Witting N, et al. JAMA Neurol. 2014 Mar;71(3):350-4. doi: 10.1001/jamaneurol.2013.5590. JAMA Neurol. 2014. PMID: 24425145 Review.
IMPORTANCE: Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness. ...The magnitude of treatment effect with ephedrine or salbutamol seems to increase gradually, peaking after approximately 6 to 8 m …
IMPORTANCE: Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness …
Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.
Yildiz EP, Kilic MA, Yalcin EU, Kurekci F, Avci R, Hacıfazlıoğlu NE, Ceylaner S, Gezdirici A, Çalışkan M. Yildiz EP, et al. Acta Neurol Belg. 2023 Oct;123(5):1841-1847. doi: 10.1007/s13760-022-02090-0. Epub 2022 Sep 12. Acta Neurol Belg. 2023. PMID: 36094697
INTRODUCTION: Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders affecting the safety factor which required for neuromuscular transmission. ...RESULTS: The most common mutations were in the acetylcholine receptor (CHRNE) gene …
INTRODUCTION: Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders affecting the safety …
Childhood myasthenia: clinical subtypes and practical management.
Parr JR, Jayawant S. Parr JR, et al. Dev Med Child Neurol. 2007 Aug;49(8):629-35. doi: 10.1111/j.1469-8749.2007.00629.x. Dev Med Child Neurol. 2007. PMID: 17635211 Free article. Review.
The following treatments are examined: cholinesterase inhibitors, immunosuppressants, and thymectomy. Inherited congenital myasthenic syndromes (CMS) are now increasingly recognized, and most commonly present during childhood. This article outlines the presyn …
The following treatments are examined: cholinesterase inhibitors, immunosuppressants, and thymectomy. Inherited congenital myasthe …
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA. Daoud H, et al. CMAJ. 2016 Aug 9;188(11):E254-E260. doi: 10.1503/cmaj.150823. Epub 2016 May 30. CMAJ. 2016. PMID: 27241786 Free PMC article.
The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome …
The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myopathy, FTO deficiency syndrome …
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine.
Harper CM, Fukodome T, Engel AG. Harper CM, et al. Neurology. 2003 May 27;60(10):1710-3. doi: 10.1212/01.wnl.0000061483.11417.1b. Neurology. 2003. PMID: 12771277
The authors found that fluoxetine significantly shortens at 5 microM/L and nearly normalizes at 10 microM/L the prolonged opening bursts of slow-channel congenital myasthenic syndrome (SCCMS) acetylcholine receptors (AChR) expressed in fibroblasts. Prompted b …
The authors found that fluoxetine significantly shortens at 5 microM/L and nearly normalizes at 10 microM/L the prolonged opening bursts of …