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Congenital myasthenic syndrome

Osorio Abath Neto, Carlos Otto Heise, Cristiane de Araújo Martins Moreno, Eduardo de Paula Estephan, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-François Deleuze, Acary Souza Bulle Oliveira, Umbertina Conti Reed, Valérie Biancalana, Jocelyn Laporte, Edmar Zanoteli
No abstract text is available yet for this article.
October 17, 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
Thashi Chang, Judith Cossins, David Beeson
BACKGROUND: Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically diagnosed cases. We report a rare CHRNE gene mutation in a South Asian female with CMS. CASE PRESENTATION: A 17-year-old Maldivian female presented with bilateral partial ptosis, fatigable proximal muscle weakness and slurring of speech noted since the age of 2 years...
October 7, 2016: BMC Neurology
Paulo Victor Sgobbi de Souza, Gabriel Novaes de Rezende Batistella, Valéria Cavalcante Lino, Wladimir Bocca Vieira de Rezende Pinto, Marcelo Annes, Acary Souza Bulle Oliveira
Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital myasthenic syndromes with a genetic and sometimes hereditary basis that resemble and mimick many of the classic myasthenia neurological manifestations, but also have different presentations, which makes them a complex clinical, therapeutic and diagnostic challenge for most clinicians...
September 2016: Arquivos de Neuro-psiquiatria
Anamarli Nucci
No abstract text is available yet for this article.
September 2016: Arquivos de Neuro-psiquiatria
D Natera-de Benito, J Domínguez-Carral, N Muelas, A Nascimento, C Ortez, T Jaijo, R Arteaga, J Colomer, J J Vilchez
Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders. Mutations in CHRNE are one of the most common cause of them and the ɛ1267delG frameshifting mutation is described to be present on at least one allele of 60% of patients with CHRNE mutations. We present a comprehensive description of the heterogeneous clinical features of the CMS caused by the homozygous 1267delG mutation in the AChR Ɛ subunit in nine members of two large Gipsy kindreds. Our observations indicate that founder Roma mutation 1267delG leads to a phenotype further characterized by ophthalmoplegia, bilateral ptosis, and good response to pyridostigmine and 3,4-DAP; but also by facial weakness, bulbar symptoms, neck muscle weakness, and proximal limb weakness that sometimes entails the loss of ambulation...
August 15, 2016: Neuromuscular Disorders: NMD
Atsuko Nishikawa, Satomi Mitsuhashi, Naomasa Miyata, Ichizo Nishino
BACKGROUND: Inherited skeletal muscle diseases are genetically heterogeneous diseases caused by mutations in more than 150 genes. This has made it challenging to establish a high-throughput screening method for identifying causative gene mutations in clinical practice. AIM: In the present study, we developed a useful method for screening gene mutations associated with the pathogenesis of skeletal muscle diseases. METHODS: We established four target gene panels, each covering all exonic and flanking regions of genes involved in the pathogenesis of the following muscle diseases: (1) muscular dystrophy (MD), (2) congenital myopathy/congenital myasthenic syndrome, (3) metabolic myopathy and (4) myopathy with protein aggregations/rimmed vacuoles...
September 6, 2016: Journal of Medical Genetics
Gina L O'Grady, Corien Verschuuren, Michaela Yuen, Richard Webster, Manoj Menezes, Johanna M Fock, Natalie Pride, Heather A Best, Tatiana Benavides Damm, Christian Turner, Monkol Lek, Andrew G Engel, Kathryn N North, Nigel F Clarke, Daniel G MacArthur, Erik-Jan Kamsteeg, Sandra T Cooper
OBJECTIVE: To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3. METHODS: Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter (VAChT), through whole-exome sequencing. RESULTS: The patients demonstrated features seen in presynaptic congenital myasthenic syndrome, including ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water for patient 1...
October 4, 2016: Neurology
Xinghua Luan, Wotu Tian, Li Cao
OBJECTIVES: To describe the clinical and genetic features of a Chinese congenital myasthenic syndromes (CMS) patient with two novel missense mutations in muscle specific receptor tyrosine kinase (MUSK) gene and review 15 MUSK-related CMS patients from 8 countries. METHODS: The patient was a 30-year-old man with chronic progressively proximal limb weakness for 22 years and diagnosed as muscular dystrophy before. Serum creatine kinase (CK) was normal. Repetitive nerve stimulation (RNS) test showed decrements at low rate stimulation...
November 2016: Clinical Neurology and Neurosurgery
Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A)...
September 1, 2016: American Journal of Human Genetics
Gianina Ravenscroft, Mark R Davis, Phillipa Lamont, Alistair Forrest, Nigel G Laing
Early-onset muscle disease includes three major entities that present generally at or before birth: congenital myopathies, congenital muscular dystrophies and congenital myasthenic syndromes. Almost exclusively there is weakness and hypotonia, although cases manifesting hypertonia are increasingly being recognised. These diseases display a wide phenotypic and genetic heterogeneity, with the uptake of next generation sequencing resulting in an unparalleled extension of the phenotype-genotype correlations and "diagnosis by sequencing" due to unbiased sequencing...
August 9, 2016: Seminars in Cell & Developmental Biology
David Beeson
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins essential for the integrity of neuromuscular transmission. This review updates the reader on recent findings that have expanded the phenotypic spectrum and suggested improved treatment strategies. RECENT FINDINGS: The use of next-generation sequencing is continuing to unearth new genes in which mutations can give rise to defective neuromuscular transmission...
October 2016: Current Opinion in Neurology
Amanda Buyan, Antreas C Kalli, Mark S P Sansom
Dok7 is a peripheral membrane protein that is associated with the MuSK receptor tyrosine kinase. Formation of the Dok7/MuSK/membrane complex is required for the activation of MuSK. This is a key step in the complex exchange of signals between neuron and muscle, which lead to neuromuscular junction formation, dysfunction of which is associated with congenital myasthenic syndromes. The Dok7 structure consists of a Pleckstrin Homology (PH) domain and a Phosphotyrosine Binding (PTB) domain. The mechanism of the Dok7 association with the membrane remains largely unknown...
July 2016: PLoS Computational Biology
Hacer Durmuş, Özgecan Ayhan, Sebahattin Çırak, Feza Deymeer, Yeşim Parman, Andre Franke, Nane Eiber, Frederic Chevessier, Ursula Schlötzer-Schrehardt, Christoph S Clemen, Said Hashemolhosseini, Rolf Schröder, Georg Hemmrich-Stanisak, Aslıhan Tolun, Piraye Serdaroğlu-Oflazer
OBJECTIVE: To assess the clinical, genetic, and myopathologic findings in 2 cousins with lack of desmin, the response to salbutamol in one patient, and the neuromuscular endplate pathology in a knock-in mouse model for recessive desminopathy. METHODS: We performed clinical investigations in the patients, genetic studies for linkage mapping, exome sequencing, and qPCR for transcript quantification, assessment of efficacy of (3-month oral) salbutamol administration by muscle strength assessment, 6-minute walking test (6MWT), and forced vital capacity, analysis of neuromuscular endplate pathology in a homozygous R349P desmin knock-in mouse by immunofluorescence staining of the hind limb muscles, and quantitative 3D morphometry and expression studies of acetylcholine receptor genes by quantitative PCR...
August 23, 2016: Neurology
Amy C Visser, Ruple S Laughlin, William J Litchy, Eduardo E Benarroch, Margherita Milone
INTRODUCTION: Fluoxetine is a selective serotonin reuptake inhibitor and long-lived open channel blocker of the acetylcholine receptor often used in the treatment of slow-channel congenital myasthenic syndromes (CMS). METHODS: We report a 42-year woman who had a history of episodic limb weakness that worsened after initiation of fluoxetine for treatment of depression. Genetic testing for CMS revealed a homozygous pathogenic mutation in the rapsyn (RAPSN) gene (p...
July 11, 2016: Muscle & Nerve
Jørgen S Agerholm, Fintan J McEvoy, Fiona Menzi, Vidhya Jagannathan, Cord Drögemüller
BACKGROUND: Bovine arthrogryposis multiplex congenita (AMC) is a syndromic term for a congenital condition characterized by multiple joint contractures. Rare inherited forms of bovine AMC have been reported in different breeds. For AMC in Angus cattle a causative genomic deletion encompassing the agrin (AGRN) gene, encoding an essential neural regulator that induces the aggregation of acetylcholine receptors (AChRs), is known. In 2015, three genetically related cases of generalized AMC affecting Red dairy calves were diagnosed in Denmark...
2016: BMC Genomics
Yuri Kitamura, Eri Kondo, Mari Urano, Ryoko Aoki, Kayoko Saito
Neuromuscular disorders are clinically and genetically heterogeneous diseases with broadly overlapping clinical features. Progress in molecular genetics has led to the identification of numerous causative genes for neuromuscular disorders, but Sanger sequencing-based diagnosis remains labor-intensive and expensive because the genes are large, the genotypes and phenotypes of neuromuscular disorders overlap and multiple genes related to a single phenotype exist. Recently, the advent of next-generation sequencing (NGS) has enabled efficient, concurrent examination of several related genes...
June 30, 2016: Journal of Human Genetics
Sumit Verma, Shawnay N Mazell, Durga A Shah
No abstract text is available yet for this article.
October 2016: Muscle & Nerve
Emily O'Connor, Ana Töpf, Juliane S Müller, Daniel Cox, Teresinha Evangelista, Jaume Colomer, Angela Abicht, Jan Senderek, Oswald Hasselmann, Ahmet Yaramis, Steven H Laval, Hanns Lochmüller
Congenital myasthenic syndromes are a group of rare and genetically heterogenous disorders resulting from defects in the structure and function of the neuromuscular junction. Patients with congenital myasthenic syndrome exhibit fatigable muscle weakness with a variety of accompanying phenotypes depending on the protein affected. A cohort of patients with a clinical diagnosis of congenital myasthenic syndrome that lacked a genetic diagnosis underwent whole exome sequencing in order to identify genetic causation...
August 2016: Brain: a Journal of Neurology
N G Fiona, Diana C Lee, Leah A Schrumpf, Mary E Mazurek, Victoria Lee Lo, Sharleen K Gill, Ricardo A Maselli
INTRODUCTION: We investigated the effects of 3,4 diaminopyridine (3,4-DAP) and its acetylated metabolite, N-(4-Amino-pyridin-3-yl) acetamide (3-Ac), at the mammalian neuromuscular junction. METHODS: Quantal release of acetylcholine was studied in diaphragm muscles of mice, using in vitro intracellular microelectrode recordings. RESULTS: Under conditions of low probability of release, 3,4-DAP produced a 1000% increase in quantal release, but 3-Ac had no effect...
June 2, 2016: Muscle & Nerve
Hussein Daoud, Stephanie M Luco, Rui Li, Eric Bareke, Chandree Beaulieu, Olga Jarinova, Nancy Carson, Sarah M Nikkel, Gail E Graham, Julie Richer, Christine Armour, Dennis E Bulman, Pranesh Chakraborty, Michael Geraghty, Matthew A Lines, Thierry Lacaze-Masmonteil, Jacek Majewski, Kym M Boycott, David A Dyment
BACKGROUND: Rare diseases often present in the first days and weeks of life and may require complex management in the setting of a neonatal intensive care unit (NICU). Exhaustive consultations and traditional genetic or metabolic investigations are costly and often fail to arrive at a final diagnosis when no recognizable syndrome is suspected. For this pilot project, we assessed the feasibility of next-generation sequencing as a tool to improve the diagnosis of rare diseases in newborns in the NICU...
August 9, 2016: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
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