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Arq. neuropsiquiatr ; 80(1): 69-74, Jan. 2022. tab, graf
Article in English | LILACS | ID: biblio-1360142


ABSTRACT Background: Congenital myasthenic syndromes (CMS) have some phenotypic overlap with seronegative myasthenia gravis (SNMG). Objective: The aim of this single center study was to assess the minimum occurrence of CMS misdiagnosed as double SNMG in a Brazilian cohort. Methods: The genetic analysis of the most common mutations in CHRNE, RAPSN, and DOK7 genes was used as the main screening tool. Results: We performed genetic analysis in 22 patients with a previous diagnosis of 'double' SNMG. In this study, one CMS patient was confirmed due to the presence of compound heterozygous variants in the CHRNE gene (c.130insG/p.Cys210Phe). Conclusions: This study confirmed that CMS due to CHNRE mutations can be mistaken for SNMG. In addition, our study estimated the prevalence of misdiagnosed CMS to be 4.5% in 'double' SNMG patients of our center. Based on our findings, genetic screening could be helpful in the diagnostic workup of patients with 'double' SNMG in whom differential diagnosis is recommended.

RESUMO Antecedentes: As síndromes miastênicas congênitas (SMC) podem ter sobreposição fenotípica com a miastenia gravis soronegativa (MG-SN). Objetivo: Estabelecer a prevalência mínima de SMC diagnosticada inicialmente como MG duplo soronegativa em uma série de casos brasileiros. Métodos: A análise genética das mutações mais comuns nos genes CHRNE, RAPSN e DOK7 foi usada como o principal exame de triagem. Resultados: Vinte e dois pacientes com diagnóstico prévio de MG-SN foram geneticamente analisados, sendo que uma paciente foi confirmada com SMC devido a presença de variante em heterozigose composta no gene CHRNE (c.130insG/p.Cys210Phe). Conclusões: O presente estudo confirma que SMC devido mutação no gene CHNRE pode ser inicialmente diagnosticada como MG-SN. O estudo estimou como 4,5% a prevalência de diagnóstico de SMC entre nossos pacientes préviamente diagnosticados como MG-SN. Com base nesse estudo, a análise genética pode ser recomendada para investigação do diagnóstico diferencial em pacientes com MG-SN.

Humans , Myasthenic Syndromes, Congenital/diagnosis , Myasthenic Syndromes, Congenital/genetics , Myasthenia Gravis/diagnosis , Myasthenia Gravis/genetics , Genetic Testing , Cohort Studies , Mutation
Chinese Journal of Contemporary Pediatrics ; (12): 672-676, 2020.
Article in Chinese | WPRIM | ID: wpr-828687


Congenital myasthenic syndrome (CMS) is a group of clinical and genetic heterogeneous diseases caused by impaired neuromuscular transmission due to genetic defects. At present, it has been reported that more than 30 genes can cause CMS. All CMS subtypes have the clinical features of fatigue and muscle weakness, but age of onset, symptoms, and treatment response vary with the molecular mechanisms underlying genetic defects. Pharmacotherapy and symptomatic/supportive treatment are the main methods for the treatment of CMS, and antisense oligonucleotide technology has been proven to be beneficial for CHRNA 1-related CMS in animals. Since CMS is a group of increasingly recognized clinical and genetic heterogeneous diseases, an understanding of the latest knowledge and research advances in its clinical features, genetic research, and treatment helps to give early diagnosis and treatment as well as gain a deeper understanding of the pathogenesis of CMS, so as to make new breakthroughs in the treatment of CMS.

Animals , Humans , Mutation , Myasthenic Syndromes, Congenital , Therapeutics
Chinese Journal of Medical Genetics ; (6): 551-554, 2020.
Article in Chinese | WPRIM | ID: wpr-826535


OBJECTIVE@#To explore the genetic basis for a female patient featuring unstable head upright and hypotonia of limbs.@*METHODS@#The child was examined clinically. Peripheral blood samples of the child, her parents and siblings were collected. Genomic DNA was extracted and subjected to next generation sequencing (NGS). Suspected variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#DNA sequencing found that the patient has carried a de novo heterozygous c.354C>A (p.N118K) variant of the CHRND gene, which was not found in her parents and sibling. Bioinformatics analysis predicted that the variant was likely to be pathogenic. Literature review suggested that the phenotype of the patient was very similar to previously reported ones.@*CONCLUSION@#The child was diagnosed with slow-channel congenital myasthenic syndrome (SCCMS) type 3A caused by heterozygous variant of the CHRND gene. NGS has provided a powerful tool for the diagnosis of such disorders.

Child , Female , Humans , Genetic Testing , Heterozygote , High-Throughput Nucleotide Sequencing , Mutation , Myasthenic Syndromes, Congenital , Genetics , Pathology , Receptors, Cholinergic , Genetics
Medwave ; 19(5): e7645, 2019.
Article in English, Spanish | LILACS | ID: biblio-1005855


INTRODUCCIÓN Los síndromes miasténicos congénitos son un grupo heterogéneo de desórdenes genéticos, caracterizados por una transmisión sináptica anormal en la placa neuromuscular. REPORTE Presentamos el caso de un paciente de dos años, varón, con hipotonía, ptosis palpebral y debilidad simétrica y de predominio proximal, características que aparecieron desde el nacimiento y que motivaron varias hospitalizaciones por neumonía e insuficiencia ventilatoria. Desde el inicio de la deambulación a los dos años, los padres notaron que la debilidad empeoraba por las tardes y con la actividad física repetida o prolongada. El examen físico a los dos años mostró ptosis palpebral, debilidad de predominio proximal y fatigabilidad con el esfuerzo sostenido. La electro-miografía evidenció decremento del 27% en el potencial de acción muscular compuesto. El análisis de tríos mostró heterocigosis compuesta por transmisión de dos mutaciones diferentes en el gen de rapsina, una ya conocida procedente del padre y la otra no reportada previa-mente, procedente de la madre. El paciente recibió piridostigmina obteniendo mejoría inmediata y logrando un desempeño óptimo en actividades escolares, deportivas y de la vida cotidiana. A la fecha, no ha presentado nuevos episodios de insuficiencia ventilatoria. CONCLUSIONES La debilidad de inicio neonatal y la fatigabilidad o agotamiento con el esfuerzo sostenido, con afección principalmente de los músculos con inervación troncal y con un decremento mayor al 10% en el potencial de acción muscular compuesto en la electromiografía, deben hacer sospechar en un síndrome miasténico congénito. Se revisan los puntos clínicos clave que permiten establecer el diagnóstico oportuno y las opciones de tratamiento efectivo para algunos de estos síndromes.

INTRODUCTION The congenital myasthenic syndromes are a heterogeneous group of genetic disorders characterized by an abnormal synaptic transmission in the neuromuscular plate. REPORT We present a two-year-old patient, male, with hypotonia, palpebral ptosis, and proximal symmetric weakness with a neonatal onset that motivated several and prolonged hospitalizations for pneumonia and respiratory failure. From two years of age, the parents noticed that the facial and general weakness worsened in the afternoons and with repeated or prolonged physical activity. The physical examination showed palpebral ptosis, predominantly proximal weakness, and fatigability with sustained muscular effort. The electromyography showed a 27% decrement in the Compound Muscular Action Potential and the case-parents genetic study showed compound heterozygosity with the transmission of two different mutations in the rapsyn gene from both parents. The patient received pyridostigmine with great improvement, achieving optimal performance in school, sports, and daily life activities. CONCLUSIONS Weakness and fatigability with neonatal onset, mainly affecting the muscles with brain stem innervation and the decrement greater than 10 percent in the Compound Muscular Action Potential in the electromyographic studies, should make us suspect in a congenital myasthenic syndrome. We review the literature and key clinical points to establish a timely diagnosis and effective treatment in some of these syndromes.

Humans , Male , Child, Preschool , Pyridostigmine Bromide/administration & dosage , Myasthenic Syndromes, Congenital/diagnosis , Muscle Proteins/genetics , Cholinesterase Inhibitors/administration & dosage , Myasthenic Syndromes, Congenital/genetics , Myasthenic Syndromes, Congenital/drug therapy , Mutation
Arq. neuropsiquiatr ; 74(9): 750-760, Sept. 2016. tab, graf
Article in English | LILACS | ID: lil-796050


ABSTRACT 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. We conducted a wide review of congenital myasthenic syndromes in their clinical, genetic and therapeutic aspects.

RESUMO Distúrbios da junção neuromuscular representam um grupo amplo de doenças neruológicas caracterizadas por fraqueza, fadigabilidade e graus variados de envolvimento das musculaturas apendicular, ocular e bulbar. Os principais grupos de doenças deste grupo incluem condições auto-imunes, como a miastenia gravis auto-imune adquirida e a síndrome de Lambert-Eaton. Entretanto, um outro grupo importante de doenças incluem as sindromes miastênicas congênitas com uma base genética e eventualmente hereditária que lembra e mimetiza muitas das manifestações neurológicas clássicas das miastenias, mas também se apresentam de diferentes formas tornando um desafio clínico, terapêutico e diagnóstico complexo para a maioria dos clínicos. Realizamos ampla revisão sobre as síndromes miastênicas congênitas em seus aspectos clínicos, genéticos e terapêuticos.

Humans , Male , Female , Myasthenic Syndromes, Congenital/genetics , Myasthenic Syndromes, Congenital/pathology , Mutation , Phenotype , Muscle Weakness/genetics , Muscle Weakness/pathology , Diagnosis, Differential , Myasthenia Gravis/genetics , Myasthenia Gravis/pathology
Lima; Perú. Ministerio de Salud. Instituto de Gestión de Servicios de Salud. Hospital San Juan de Lurigancho; 1 ed; 2016. 26 p. ilus.
Monography in Spanish | LILACS, MINSAPERU | ID: biblio-1255421


Ante el riesgo epidemiológico de Zika, la Unidad de Epidemiología y Salud Ambiental en forma conjunta con los demás unidades y servicios de salud del hospital San Juan de Lurigancho, ha elaborado el Plan de Contingencia de Preparación y Respuesta frente a la enfermedad por virus Zika - HSJL, 2016", el plan local, está fundamentado en las últimas recomendaciones de la Organización Panamericana de la Salud/Organización Mundial de la Salud (OPS/OMS) y MINSA/DGE, teniendo como finalidad reducir el impacto sanitario, social y económico ante la introducción del virus en el país

Arbovirus Infections , Mosquito Control , Flavivirus Infections , Aedes , Myasthenic Syndromes, Congenital , Insect Vectors , Microcephaly
Chinese Medical Journal ; (24): 2596-2602, 2016.
Article in English | WPRIM | ID: wpr-230915


<p><b>BACKGROUND</b>Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction. Here, we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome (SCCMS).</p><p><b>METHODS</b>Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined, and next-generation sequencing followed by direct sequencing was carried out.</p><p><b>RESULTS</b>The patients revealed variability in clinical and electrophysiological features. However, weakness, scoliosis, and repetitive-compound muscle action potential were found in all affected members in the family. A heterozygous C>T missense mutation at nucleotide 865 in acetylcholine receptor epsilon-subunit (CHRNE) gene that causes a leucine-to-phenylalanine substitution at position 289 (L289F) was found.</p><p><b>CONCLUSIONS</b>We reported a SCCMS family of Chinese origin. In the family, classical clinical phenotype with phenotypic variability among different members was found. Genetic testing could help diagnose this rare disease.</p>

Adult , Female , Humans , Male , Young Adult , DNA Mutational Analysis , Electrophysiology , Mutation, Missense , Genetics , Myasthenic Syndromes, Congenital , Genetics , Receptors, Nicotinic , Genetics
Rev. paul. pediatr ; 31(1): 121-123, mar. 2013.
Article in Portuguese | LILACS | ID: lil-671668


OBJETIVO: Alertar os pediatras sobre a necessidade de investigar criteriosamente a etiologia de eventos com aparente risco de morte recorrente. Não foram encontrados relatos associando tais eventos à miastenia congênita. DESCRIÇÃO DO CASO: Lactente de sete meses apresentando história de eventos com aparente risco de morte recorrente foi internado para investigação. Durante a internação, apresentou cianose e dispneia progressiva, com necessidade de ventilação mecânica por três dias. Após a melhora clínica, e tendo sido descartadas as hipóteses de doença do refluxo gastroesofágico e aspiração pulmonar como desencadeantes, notou-se ptose palpebral bilateral, hipotonia apendicular e choro fraco, que conduziram à suspeita clínica de miastenia congênita. Após confirmação do diagnóstico, foi mantido tratamento ambulatorial com piridostigmina, com recuperação nutricional e neurológica, sem novos eventos com aparente risco de morte nos três anos seguintes. COMENTÁRIOS: A investigação minuciosa das causas de eventos com aparente risco de morte pode levar a diagnósticos menos frequentes que exigem tratamento específico, como a miastenia congênita.

OBJECTIVE: To alert pediatricians about the importance of a careful investigation on recurrent apparent life-threatening events. Reports of the association of these events with congenital myasthenic syndromes were not found. CASE DESCRIPTION: A seven-month-old infant with recurrent apparent life-threatening events was admitted for investigation. During hospital stay, she presented cyanosis and respiratory failure, requiring mechanical ventilation for three days. After clinical improvement, hypotheses of gastroesophageal reflux and pulmonary aspiration were ruled out. The presence of eyelid ptosis, general hypotonia and weak crying led to the suspicion of congenital myasthenia, which was confirmed. Treatment with oral piridostigmine led to neurological and nutritional normalization, without any other apparent life-threatening event during the next three years. COMMENTS: The careful etiological investigation of apparent life-threatening events may lead to rare diagnosis that requires specific treatments, such as congenital myasthenia.

OBJETIVO: Alertar a los pediatras sobre la necesidad de investigar criteriosamente la etiología de eventos con aparente riesgo de muerte recurrente. No se encontraron relatos asociando tales eventos a la miastenia congénita. DESCRIPCIÓN DEL CASO: Lactante de siete meses presentando historia de eventos con aparente riesgo de muerte recurrente fue internado para investigación. Durante la internación, presentó cianosis y disnea progresiva, con necesidad de ventilación mecánica por tres días. Después de la mejora clínica, y habiendo sido rechazadas las hipótesis de enfermedad del reflujo gastroesofágico y aspiración pulmonar como desencadenantes, se notó ptosis palpebral bilateral, hipotonía apendicular y lloro débil, que condujeron a la sospecha clínica de miastenia congénita. Después de la confirmación del diagnóstico, se mantuvo el tratamiento ambulatorial con piridostigmina, con recuperación nutricional y neurológica, sin nuevos eventos con aparente riesgo de muerte en los tres años siguientes. COMENTARIOS: La investigación minuciosa de las causas de eventos con aparente riesgo de muerte puede llevar a diagnósticos menos frecuentes que exigen tratamiento específico, como la miastenia congénita.

Female , Humans , Infant , Brief, Resolved, Unexplained Event/etiology , Myasthenic Syndromes, Congenital/complications , Myasthenic Syndromes, Congenital/diagnosis , Recurrence
Journal of Clinical Neurology ; : 186-191, 2009.
Article in English | WPRIM | ID: wpr-148778


BACKGROUND AND PURPOSE: Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy. These disorders include hyperkalemic periodic paralysis (HYPP), hypokalemic periodic paralysis, paramyotonia congenita (PMC), potassium-aggravated myotonia, and congenital myasthenic syndrome. This study analyzed the clinical and mutational spectra of skeletal muscle sodium channelopathy in Korean subjects. METHODS: Six unrelated Korean patients with periodic paralysis or nondystrophic myotonia associated with SCN4A mutations were included in the study. For the mutational analysis of SCN4A, we performed a full sequence analysis of the gene using the patients' DNA. We also analyzed the patients' clinical history, physical findings, laboratory tests, and responses to treatment. RESULTS: We identified four different mutations (one of which was novel) in all of the patients examined. The novel heterozygous missense mutation, p.R225W, was found in one patient with mild nonpainful myotonia. Our patients exhibited various clinical phenotypes: pure myotonia in four, and PMC in one, and HYPP in one. The four patients with pure myotonia were initially diagnosed as having myotonia congenita (MC), but a previous analysis revealed no CLCN1 mutation. CONCLUSIONS: Clinical differentiating between sodium-channel myotonia (SCM) and MC is not easy, and it is suggested that a mutational analysis of both SCN4A and CLCN1 is essential for the differential diagnosis of SCM and MC.

Humans , Channelopathies , Diagnosis, Differential , DNA , Hypokalemic Periodic Paralysis , Muscle, Skeletal , Mutation, Missense , Myasthenic Syndromes, Congenital , Myotonia , Myotonia Congenita , Myotonic Disorders , Paralyses, Familial Periodic , Paralysis , Paralysis, Hyperkalemic Periodic , Sequence Analysis , Sodium , Sodium Channels
IRCMJ-Iranian Red Crescent Medical Journal. 2008; 10 (1): 22-26
in English | IMEMR | ID: emr-87350


Considering the marked difference between the clinical course and management of juvenile myasthenia gravis, congenital/genetic myasthenia gravis and transient neonatal MG, the differential diagnosis is very important. This study was undertaken to evaluate the clinical spectrum of myasthenia gravis in children and determine the factors helping clinicians in their diagnosis and management of the disease. In a retrospective study from 1994 to 2002, all pediatric patients with myasthenia gravis [MG] admitted to Department of Pediatric Neurology in Mofid Children Hospital affiliated to Shahid Beheshti University were enrolled. Of 32 children, 7 and 25 suffered from congenital and juvenile types of MG, respectively. The initial symptoms in congenital MG were ptosis [7/7], limitation of eye movement [2/7] and mild generalized weakness [6/7]. Although 85% of cases with congenital MG, tested positive for Tensilon test, no myasthenia crisis or spontaneous remission was observed in any of the patients. The female to male ratio was 1.5/1 which was correlated to adult MG. In children with juvenile MG, the mean age was 5.7 +/- 4.2SD years. The most common symptoms were ptosis in 96% and generalized weakness in 76% of the cases. 32% of patients experienced one myasthenia crisis. EMG was diagnosed in 83% and tensilon test was positive in 84% of the cases. One patient had hyperthyroidism and another had hypothyroidism and both were epileptic. Eight patients underwent thymectomy microscopically. Thymic follicular hyperplasia was observed in five cases [62%], and the remaining three cases were normal. 12.5% of patients recovered completely after thymectomy and there was no need for medication during the follow up. 50% of cases showed relative improvement but it was negligible in 37% of patients. This study revealed that thymectomy lacks remarkable prognostic influence

Humans , Male , Female , Myasthenic Syndromes, Congenital , Thymectomy , Child , Retrospective Studies , Electromyography
Arq. neuropsiquiatr ; 64(2a): 318-321, jun. 2006. ilus
Article in Portuguese | LILACS | ID: lil-429706


A síndrome do canal lento é uma das síndromes miastênicas congênitas atribuída a desordem dinâmica do canal iônico do receptor de acetilcolina da junção neuromuscular. Descrevemos o caso de um homem de 25 anos com progressiva ptose palpebral e limitação da movimentação ocular desde infância, que evoluiu há 6 anos com piora da oftalmoparesia externa e diminuição da força muscular em ombros e mãos. O estudo da condução nervosa motora após estímulo único demonstrou duplo potencial de ação muscular composto (PAMC) com desaparecimento do segundo após esforço de 30 segundos. Ao estímulo repetitivo dos nervos facial e acessório observou-se um decremento da amplitude do PAMC maior que 10 por cento com desaparecimento do segundo potencial. O paciente fez uso de fluoxetina mostrando discreta melhora da força muscular, porém persiste com: ptose palpebral, limitação dos movimentos oculares e PAMC repetitivo ao estudo da condução nervosa motora. As características da doença são discutidas.

Adult , Humans , Male , Action Potentials/physiology , Myasthenic Syndromes, Congenital/physiopathology , Neural Conduction/physiology , Electric Stimulation , Electromyography , Electrophysiology , Fluoxetine/therapeutic use , Myasthenic Syndromes, Congenital/diagnosis , Myasthenic Syndromes, Congenital/drug therapy , Neuromuscular Junction/physiopathology , Selective Serotonin Reuptake Inhibitors/therapeutic use
J. pediatr. (Rio J.) ; 78(supl.1): S89-S103, jul. 2002. ilus, tab
Article in Portuguese | LILACS | ID: lil-318846


Objetivo: apresentar os dados essenciais para o diagnóstico diferencial entre as principais doenças neuromusculares, denominação genérica sob a qual agrupam-se diferentes afecções, decorrentes do acometimento primário da unidade motora (motoneurônio medular, raiz nervosa, nervo periférico, junção mioneural e músculo).Fontes dos dados: os aspectos clínicos fundamentais para estabelecer o diagnóstico diferencial entre as diferentes doenças neuromusculares, bem como entre estas e as causas de hipotonia muscular secundária ao comprometimento do sistema nervoso central ou a doenças sistêmicas não-neurológicas, são enfatizados, com base na experiência clínica vinda do atendimento a crianças comdoenças neuromusculares durante os últimos 12 anos, no ambulatório de doenças neuromusculares do Hospital das Clínicas da Faculdade de Medicina, da Universidade de São Paulo. A revisão bibliográfica foi efetuada através do Medline e do periódico Neuromuscular Disorders, publicação oficial da World Muscle Society.Síntese dos dados: nas crianças, a maior parte destas afecções é geneticamente determinada, sendo as mais comuns a distrofia muscular progressiva ligada ao sexo, de Duchenne, a miotrofi espinal infantil, a distrofia muscular congênita, a distrofia miotônica de Steinert, e as miopatias congênitas, estruturais e não estruturais.Polineuropatias hereditárias, síndrome miastênica congênita e miopatias metabólicas são menos comuns, porém mostram correlação geno-fenotípica cada vez mais precisa.Conclusões: na década passada, inúmeros avanços da genética molecular facilitaram imensamente o diagnóstico e o aconselhamentogenético das doenças neuromusculares mais comuns das crianças, inclusive possibilitando diagnóstico fetal e, adicionalmente, vieram permitir melhor caracterização fenotípica e classificação mais objetiva

Humans , Male , Female , Child , Neuromuscular Diseases/diagnosis , Muscular Dystrophies , Myasthenic Syndromes, Congenital , Myotonic Dystrophy
Arq. bras. oftalmol ; 64(5): 477-480, set.-out. 2001. ilus
Article in Portuguese | LILACS | ID: lil-299980


A miastenia gravis é uma doença crônica, caracterizada por fatigabilidade anormal de músculos estriados, podendo acometer grupos musculares isolados ou tornar-se generalizada. Os autores descrevem um caso de miastenia gravis congênita generalizada e oftalmoplegia parcial em um paciente de 10 anos de idade, portador de sintomas sistêmicos motores e de ausência na aduçäo, abduçäo e elevaçäo em ambos os olhos e com ptose palpebral bilateral, sendo reduzida à funçäo de infraversäo. O paciente foi diagnosticado aos dois anos e seis meses, sendo iniciado tratamento com piridostigmina em doses subterapêuticas, sem alteraçäo importante no quadro clínico. Aos quatro anos de idade, procurou esta instituiçäo, sendo ajustada à dose da medicaçäo, seguindo-se melhora significativa dos sintomas motores sistêmicos, melhora parcial da ptose palpebral e sem alteraräo na oftalmoplegia externa.

Humans , Male , Child , Cholinesterase Inhibitors , Ophthalmoplegia , Pyridostigmine Bromide , Myasthenic Syndromes, Congenital/drug therapy , Ophthalmoplegia , Myasthenic Syndromes, Congenital/diagnosis
Neurol India ; 2000 Sep; 48(3): 266-71
Article in English | IMSEAR | ID: sea-121040


The term 'congenital myasthenic syndrome' (CMS) encompasses a number of heterogeneous disorders characterised by myasthenic symptoms since birth, usually with positive family history and absence of acetyl choline receptor antibodies. Recent advances in electrophysiology and ultrastructural analysis of neuromuscular junction have made it possible to identify the various defects underlying these disorders. We report four cases of CMS, with a review of literature.

Adult , Autoantibodies , Child , Electrodiagnosis , Family Health , Female , Humans , Male , Myasthenic Syndromes, Congenital/classification
Article in English | IMSEAR | ID: sea-88958


We report a family of two brothers with familial infantile myaesthenia which is an autosomal recessive congenital myaesthenic syndrome. It is a presynaptic neuro muscular junction disorder, responsive to treatment and has got good prognosis.

Adolescent , Child , Cholinesterase Inhibitors/therapeutic use , Humans , Male , Myasthenic Syndromes, Congenital/drug therapy