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Pesquisa : C10.597.613.700 [Categoria DeCS]
Referências encontradas : 946 [refinar]
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[PMID]:28320154
[Au] Autor:Portaro S; Russo M; Naro A; Bramanti A; Bramanti P; Rodolico C; Calabrò RS
[Ad] Endereço:IRCCS Centro Neurolesi "Bonino-Pulejo", Messina, Italy.
[Ti] Título:Advances in assessing myotonia: Can sensor-engineered glove have a role?
[So] Source:J Neurol Sci;375:3-7, 2017 Apr 15.
[Is] ISSN:1878-5883
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Non-dystrophic (NDMs) and Dystrophic Myotonias (DMs) are diseases characterized by the presence of myotonia with or without muscle weakness. A standardized myotonia assessment is important to more objectively quantify the handgrip myotonia. We screened 10 patients affected by NDM and 10 patients with DM, using the sensor-engineered glove (SEG). The time required to perform a complete finger extension (grip myotonia time, GMT) at maximum velocity (MV) after maximum voluntary contraction (MVC) was evaluated through an ad hoc protocol including rest, exercise, and ice effects on handgrip myotonia. We observed a general trend to GMT increase when applying the ice block and a GMT decrease when repeating GM movements, at individual level in both NDM and DM patients. SEG is an automated, non-invasive, quick, and easy technique for evaluating handgrip myotonia in NDM and DM patients. SEG could, therefore, be considered a promising tool to evaluate myotonia and monitor treatment efficacy for clinical trials.
[Mh] Termos MeSH primário: Engenharia Biomédica/métodos
Técnicas de Diagnóstico Neurológico/instrumentação
Força da Mão/fisiologia
Contração Muscular/fisiologia
Miotonia/diagnóstico
Miotonia/fisiopatologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Equipamentos e Provisões
Feminino
Seres Humanos
Masculino
Meia-Idade
Músculo Esquelético/fisiopatologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170703
[Lr] Data última revisão:
170703
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170322
[St] Status:MEDLINE


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[PMID]:28141569
[Au] Autor:Tanigasalam V
[Ad] Endereço:Department of Pediatrics, JIPMER, Puducherry 605 006, Tamil Nadu. vasanthan2k6jipmer@gmail.com.
[Ti] Título:Myotonia in a Child with Muscle Hypertrophy.
[So] Source:Indian Pediatr;54(1):58, 2017 Jan 15.
[Is] ISSN:0974-7559
[Cp] País de publicação:India
[La] Idioma:eng
[Mh] Termos MeSH primário: Hipertrofia
Doenças Musculares
Miotonia
[Mh] Termos MeSH secundário: Anorexia
Pré-Escolar
Eletromiografia
Seres Humanos
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170201
[St] Status:MEDLINE


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[PMID]:28039888
[Au] Autor:Andersen G; Løkken N; Vissing J
[Ad] Endereço:Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, 3342 Blegdamsvej 9, 2100, Denmark.
[Ti] Título:Aerobic training in myotonia congenita: Effect on myotonia and fitness.
[So] Source:Muscle Nerve;56(4):696-699, 2017 Oct.
[Is] ISSN:1097-4598
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Exercise has not been investigated in myotonia congenita (MC). We investigated whether regular aerobic training can reduce myotonia and improve fitness. METHODS: Untrained patients with MC (age: 24-62 years; n = 6) completed 28 ± 3 sessions of 30-minute cycle ergometer training at 75% of maximal capacity for 11 ± 1 weeks. Fitness was evaluated by maximal oxygen uptake. The level of myotonia was assessed by the Myotonia Behavior Scale, 14 step stair test, timed up and go test, and hand and eye closure-open tests. RESULTS: Training increased fitness by 9% (95% confidence interval [CI], 1-17%; P = 0.02) and maximal workload by 10% (95% CI, 3-18%; P = 0.03). None of the myotonia tests changed in a clinically meaningful way. CONCLUSIONS: Regular endurance training improves fitness and maximal workload performance in patients with MC. The lack of creatine kinase elevations indicates that muscle damage did not occur. Improved fitness, however, did not change myotonic symptoms in this small cohort. Muscle Nerve 56: 696-699, 2017.
[Mh] Termos MeSH primário: Terapia por Exercício/métodos
Exercício/fisiologia
Miotonia Congênita/terapia
Miotonia/terapia
Aptidão Física/fisiologia
[Mh] Termos MeSH secundário: Adulto
Feminino
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Miotonia/fisiopatologia
Miotonia Congênita/fisiopatologia
Resistência Física/fisiologia
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170101
[St] Status:MEDLINE
[do] DOI:10.1002/mus.25549


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[PMID]:28012096
[Au] Autor:Benhammou JN; Phan J; Lee H; Ghassemi K; Parsons W; Grody WW; Pisegna JR
[Ad] Endereço:Division of Digestive Diseases, Department of Medicine, and Departments of Pathology & Laboratory Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
[Ti] Título:A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.
[So] Source:J Mol Neurosci;61(3):312-314, 2017 Mar.
[Is] ISSN:1559-1166
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogeneous group of conditions that include hyperkalemic periodic paralysis, paramyotonica congenita, potassium-aggravated myotonia, and hypokalemic periodic paralysis type 2. This case report proposes that a rare variant p.Pro1629Leu in SCN4A can cause a skeletal muscle deficit with intermittent dysphagia.
[Mh] Termos MeSH primário: Transtornos de Deglutição/genética
Mutação de Sentido Incorreto
Miotonia/genética
Canal de Sódio Disparado por Voltagem NAV1.4/genética
[Mh] Termos MeSH secundário: Transtornos de Deglutição/diagnóstico
Feminino
Seres Humanos
Meia-Idade
Músculo Esquelético/metabolismo
Músculo Esquelético/fisiopatologia
Miotonia/diagnóstico
Potássio/metabolismo
Síndrome
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human); RWP5GA015D (Potassium)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170629
[Lr] Data última revisão:
170629
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161225
[St] Status:MEDLINE
[do] DOI:10.1007/s12031-016-0878-5


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[PMID]:28007994
[Au] Autor:Peeters K; Chamova T; Tournev I; Jordanova A
[Ad] Endereço:Molecular Neurogenomics Group, Department of Molecular Genetics, VIB and University of Antwerp, Antwerpen 2610, Belgium.
[Ti] Título:Axonal neuropathy with neuromyotonia: there is a HINT.
[So] Source:Brain;140(4):868-877, 2017 Apr 01.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Recessive mutations in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1) were recently shown to cause a motor-predominant Charcot-Marie-Tooth neuropathy. About 80% of the patients exhibit neuromyotonia, a striking clinical and electrophysiological hallmark that can help to distinguish this disease and to guide diagnostic screening. HINT1 neuropathy has worldwide distribution and is particularly prevalent in populations inhabiting central and south-eastern Europe. With 12 different mutations identified in more than 60 families, it ranks among the most common subtypes of axonal Charcot-Marie-Tooth neuropathy. This article provides an overview of the present knowledge on HINT1 neuropathy with the aim to increase awareness and spur interest among clinicians and researchers in the field. We propose diagnostic guidelines to recognize and differentiate this entity and suggest treatment strategies to manage common symptoms. As a recent player in the field of hereditary neuropathies, the role of HINT1 in peripheral nerves is unknown and the underlying disease mechanisms are unexplored. We provide a comprehensive overview of the structural and functional characteristics of the HINT1 protein that may guide further studies into the molecular aetiology and treatment strategies of this peculiar Charcot-Marie-Tooth subtype.
[Mh] Termos MeSH primário: Doença de Charcot-Marie-Tooth/genética
Neuropatia Hereditária Motora e Sensorial/genética
Síndrome de Isaacs/genética
Miotonia/genética
Proteínas do Tecido Nervoso/genética
Doenças do Sistema Nervoso Periférico/genética
[Mh] Termos MeSH secundário: Doença de Charcot-Marie-Tooth/epidemiologia
Doença de Charcot-Marie-Tooth/patologia
Neuropatia Hereditária Motora e Sensorial/epidemiologia
Neuropatia Hereditária Motora e Sensorial/patologia
Seres Humanos
Síndrome de Isaacs/epidemiologia
Síndrome de Isaacs/patologia
Miotonia/epidemiologia
Miotonia/patologia
Doenças do Sistema Nervoso Periférico/epidemiologia
Doenças do Sistema Nervoso Periférico/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (HINT1 protein, human); 0 (Nerve Tissue Proteins)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170425
[Lr] Data última revisão:
170425
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161224
[St] Status:MEDLINE
[do] DOI:10.1093/brain/aww301


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[PMID]:27783415
[Au] Autor:Skov M; de Paoli FV; Nielsen OB; Pedersen TH
[Ad] Endereço:Department of Biomedicine, Aarhus University, Ole Worms Allé 4, 8000, Aarhus C, Denmark.
[Ti] Título:The anti-convulsants lacosamide, lamotrigine, and rufinamide reduce myotonia in isolated human and rat skeletal muscle.
[So] Source:Muscle Nerve;56(1):136-142, 2017 Jul.
[Is] ISSN:1097-4598
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: In myotonia congenita, loss of ClC-1 Cl channel function results in skeletal muscle hyperexcitability and myotonia. Anti-myotonic treatment has typically targeted the voltage-gated sodium channel in skeletal muscle (Nav1.4). In this study we explored whether 3 sodium channel-modulating anti-epileptics can reduce myotonia in isolated rat and human muscle. METHODS: Dissected muscles were rendered myotonic by ClC-1 channel inhibition. The ability of the drugs to suppress myotonia was then assessed from subclinical to maximal clinical concentrations. Drug synergy was determined using isobole plots. RESULTS: All drugs were capable of abolishing myotonia in both rat and human muscles. Lamotrigine and rufinamide completely suppressed myotonia at submaximal clinical concentrations, whereas lacosamide had to be raised above the maximal clinical concentration to suppress myotonia completely. A synergistic effect of lamotrigine and rufinamide was observed. CONCLUSION: These findings suggest that lamotrigine and rufinamide could be considered for anti-myotonic treatment in myotonia congenita. Muscle Nerve 56: 136-142, 2017.
[Mh] Termos MeSH primário: Anticonvulsivantes/farmacologia
Anticonvulsivantes/uso terapêutico
Músculo Esquelético/efeitos dos fármacos
Miotonia/tratamento farmacológico
[Mh] Termos MeSH secundário: Acetamidas
Animais
Antracenos/toxicidade
Área Sob a Curva
Relação Dose-Resposta a Droga
Sinergismo Farmacológico
Estimulação Elétrica
Feminino
Seres Humanos
Técnicas In Vitro
Contração Isométrica/efeitos dos fármacos
Masculino
Miotonia/induzido quimicamente
Ratos
Ratos Wistar
Triazinas
Triazóis
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Acetamides); 0 (Anthracenes); 0 (Anticonvulsants); 0 (Triazines); 0 (Triazoles); 563KS2PQY5 (lacosamide); 723-62-6 (9-anthroic acid); U3H27498KS (lamotrigine); WFW942PR79 (rufinamide)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161027
[St] Status:MEDLINE
[do] DOI:10.1002/mus.25452


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[PMID]:27743929
[Au] Autor:De Bellis M; Carbonara R; Roussel J; Farinato A; Massari A; Pierno S; Muraglia M; Corbo F; Franchini C; Carratù MR; De Luca A; Conte Camerino D; Desaphy JF
[Ad] Endereço:Section of Pharmacology, Department of Pharmacy and Drug Sciences, University of Bari Aldo Moro, 70125, Bari, Italy.
[Ti] Título:Increased sodium channel use-dependent inhibition by a new potent analogue of tocainide greatly enhances in vivo antimyotonic activity.
[So] Source:Neuropharmacology;113(Pt A):206-216, 2017 Feb.
[Is] ISSN:1873-7064
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Although the sodium channel blocker, mexiletine, is the first choice drug in myotonia, some myotonic patients remain unsatisfied due to contraindications, lack of tolerability, or incomplete response. More therapeutic options are thus needed for myotonic patients, which require clinical trials based on solid preclinical data. In previous structure-activity relationship studies, we identified two newly-synthesized derivatives of tocainide, To040 and To042, with greatly enhanced potency and use-dependent behavior in inhibiting sodium currents in frog skeletal muscle fibers. The current study was performed to verify their potential as antimyotonic agents. Patch-clamp experiments show that both compounds, especially To042, are greatly more potent and use-dependent blockers of human skeletal muscle hNav1.4 channels compared to tocainide and mexiletine. Reduced effects on F1586C hNav1.4 mutant suggest that the compounds bind to the local anesthetic receptor, but that the increased hindrance and lipophilia of the N-substituent may further strengthen drug-receptor interaction and use-dependence. Compared to mexiletine, To042 was 120 times more potent to block hNav1.4 channels in a myotonia-like cellular condition and 100 times more potent to improve muscle stiffness in vivo in a previously-validated rat model of myotonia. To explore toxicological profile, To042 was tested on hERG potassium currents, motor coordination using rotarod, and C2C12 cell line for cytotoxicity. All these experiments suggest a satisfactory therapeutic index for To042. This study shows that, owing to a huge use-dependent block of sodium channels, To042 is a promising candidate drug for myotonia and possibly other membrane excitability disorders, warranting further preclinical and human studies.
[Mh] Termos MeSH primário: Miotonia/prevenção & controle
Canal de Sódio Disparado por Voltagem NAV1.4/fisiologia
Tocainide/farmacologia
Bloqueadores do Canal de Sódio Disparado por Voltagem/farmacologia
[Mh] Termos MeSH secundário: Animais
Relação Dose-Resposta a Droga
Canais de Potássio Éter-A-Go-Go/fisiologia
Seres Humanos
Masculino
Mexiletina/farmacologia
Músculo Esquelético/efeitos dos fármacos
Músculo Esquelético/fisiologia
Miotonia/fisiopatologia
Ratos
Ratos Wistar
Reflexo de Endireitamento/efeitos dos fármacos
Teste de Desempenho do Rota-Rod
Tocainide/efeitos adversos
Tocainide/análogos & derivados
Tocainide/uso terapêutico
Bloqueadores do Canal de Sódio Disparado por Voltagem/efeitos adversos
Bloqueadores do Canal de Sódio Disparado por Voltagem/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ether-A-Go-Go Potassium Channels); 0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human); 0 (Voltage-Gated Sodium Channel Blockers); 1U511HHV4Z (Mexiletine); 27DXO59SAN (Tocainide)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161105
[St] Status:MEDLINE


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[PMID]:27415035
[Au] Autor:Yang X; Jia H; An R; Xi J; Xu Y
[Ad] Endereço:a Department of Neurology , West China Hospital, Sichuan University , Chengdu , Sichuan Province , P.R. China.
[Ti] Título:Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
[So] Source:Channels (Austin);11(1):55-65, 2017 Jan 02.
[Is] ISSN:1933-6969
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Myotonia congenita (MC), paramyotonia congenita (PC) and sodium channel myotonias(SCM) were belonged to Non-dystrophic myotonias, in which muscle relaxation is delayed after voluntary or evoked contraction. These diseases can not be simply distinguished only based on symptoms and signs but also on genetics: more than 100 mutations in the CLCN1 gene have been associated with MC, while at least 20 mutations in the SCN4A gene have been associated with PC and SCM. Most of these genetics studies have been conducted outside China, only several MC, PC, and SCM families accepted gene scan were reported in China. Therefore we analyzed genetic mutations in CLCN1 and SCN4A in 10 Chinese families clinically diagnosed with Non-dystrophic myotonias. Our result revealed 12 potential disease-causing mutations(3 mutations were novel) that were present in the probands and affected family members. We also reviewed all available literature on mutations linked to these 3 disease in Chinese populations. Our results may help identify genetic determinants as well as clarify genotype-phenotype relationships.
[Mh] Termos MeSH primário: Canais de Cloreto/genética
Miotonia/genética
Canal de Sódio Disparado por Voltagem NAV1.4/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Grupo com Ancestrais do Continente Asiático/genética
Seres Humanos
Masculino
Mutação
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CLC-1 channel); 0 (Chloride Channels); 0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160715
[St] Status:MEDLINE
[do] DOI:10.1080/19336950.2016.1212140


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[PMID]:27653901
[Au] Autor:Kato H; Kokunai Y; Dalle C; Kubota T; Madokoro Y; Yuasa H; Uchida Y; Ikeda T; Mochizuki H; Nicole S; Fontaine B; Takahashi MP; Mitake S
[Ad] Endereço:Department of Neurology, Tosei General Hospital, Japan.
[Ti] Título:A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.
[So] Source:J Neurol Sci;369:254-258, 2016 Oct 15.
[Is] ISSN:1878-5883
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Non-dystrophic myotonias are caused by mutations of either the skeletal muscle chloride (CLCN1) or sodium channel (SCN4A) gene. They exhibit several distinct phenotypes, including myotonia congenita, paramyotonia congenita and sodium channel myotonia, and a genotype-phenotype correlation has been established. However, there are atypical cases that do not fit with the standard classification. We report a case of 27-year-old male who had non-dystrophic myotonia with periodic paralysis and two heterozygous mutations, E950K in CLCN1 and F1290L in SCN4A. His mother, who exhibited myotonia without paralytic attack, only harbored E950K, and no mutations were identified in his asymptomatic father. Therefore, the E950K mutation was presumed to be pathogenic, although it was reported as an extremely rare genetic variant. The proband experienced paralytic attacks that lasted for weeks and were less likely to be caused by CLCN1 mutation alone. Functional analysis of the F1290L mutant channel heterologously expressed in cultured cells revealed enhanced activation inducing membrane hyperexcitability. We therefore propose that the two mutations had additive effects on membrane excitability that resulted in more prominent myotonia in the proband. Our case stresses the value of performing genetic analysis of both CLCN1 and SCN4A genes for myotonic patients with an atypical phenotype.
[Mh] Termos MeSH primário: Canais de Cloreto/genética
Mutação/genética
Miotonia/genética
Canal de Sódio Disparado por Voltagem NAV1.4/genética
[Mh] Termos MeSH secundário: Adulto
Análise Mutacional de DNA
Eletromiografia
Potencial Evocado Motor/genética
Teste de Esforço
Seres Humanos
Masculino
Miotonia/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CLC-1 channel); 0 (Chloride Channels); 0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160923
[St] Status:MEDLINE


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[PMID]:27300293
[Au] Autor:Rudnik-Schöneborn S; Witsch-Baumgartner M; Zerres K
[Ad] Endereço:Institute of Human Genetics, Medical Faculty Uniklinik RWTH Aachen, Aachen, Germany.
[Ti] Título:Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis.
[So] Source:Gynecol Obstet Invest;81(5):472-6, 2016.
[Is] ISSN:1423-002X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: There are only few reports of pregnancy and delivery in non-dystrophic myotonia or periodic paralysis caused by CLCN1 or SCN4A gene mutations. METHODS: We report the medical histories and personal attitudes of 5 unrelated German patients, 2 following autosomal recessive inheritance (case 1; most likely and case 2; confirmed Becker disease) and 3 following autosomal dominant inheritance (case 3; CLCN1 mutation, cases 4-5; SCN4A mutations), who delivered a total of 9 children. RESULTS: Apart from case 5 with periodic paralysis, who had 5 early miscarriages and pre-eclampsia resulting in cesarean delivery, there was no evidence of increased obstetric complication rates, and neonatal outcome was favorable. In all patients, there was aggravation of myotonia or weakness in pregnancy, followed by a short-term improvement after delivery in cases 2 and 3. Mexiletine medication improved the clinical features significantly in case 2 but was unable to control pregnancy-related deterioration. In case 4 (and her sister) and case 5, there was a clear disease aggravation in pregnancy resulting in hospitalization or repeated neurological examinations. CONCLUSION: Pregnancy can be regarded as a strong triggering factor in inherited non-dystrophic myotonias and periodic paralysis, regardless of the underlying gene defect.
[Mh] Termos MeSH primário: Miotonia/genética
Transtornos Miotônicos/genética
Paralisias Periódicas Familiares/genética
Gravidez/fisiologia
[Mh] Termos MeSH secundário: Adulto
Canais de Cloreto/genética
Feminino
Seres Humanos
Miotonia/fisiopatologia
Transtornos Miotônicos/fisiopatologia
Canal de Sódio Disparado por Voltagem NAV1.4/genética
Paralisias Periódicas Familiares/fisiopatologia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CLC-1 channel); 0 (Chloride Channels); 0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170419
[Lr] Data última revisão:
170419
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160615
[St] Status:MEDLINE
[do] DOI:10.1159/000446944



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BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde