A case of early onset diabetes with myotonic dystrophy type 1 / 中南大学学报(医学版)

Myotonic dystrophy type 1 (DM1, OMIM 160900) is a rare autosomal dominant hereditary disease. A case of DM1 patient with early onset diabetes and decreased muscle strength was treated in the Department of Endocrinology, Third Xiangya Hospital, Central South University. The peripheral blood of the patient was collected to extract DNA for gene detection. It was found that the triple nucleotide CTG repeat in the 3'-untranslated region (3'-UTR) of the dystrophia myotonica protein kinase (DMPK) gene was more than 100 times, and the diagnosis of DM1 was clear. For diabetes patients with multiple system abnormalities such as muscle symptoms, attention should be paid to the screening of DM1, a rare disease.

Sobrecarga del cuidador y distrofia miotónica de Steinert tipo 1 / Caregiver overload and Steinert myotonic dystrophy type 1

Introducción: La distrofia miotónica tipo 1 es la distrofia muscular más frecuente a nivel mundial. Progresa lentamente llevando al paciente a la pérdida de autonomía lo que implica la necesidad del cuidador, quien con frecuencia, también padece la enfermedad. El síndrome de sobrecarga, desgaste o burnout, término en inglés muy utilizado en la bibliografía médica, se ha descrito en los últimos años para los cuidadores y es el desgaste emocional una de sus particularidades. Objetivo: Evaluar la autonomía para la realización de actividades diarias de los pacientes con distrofia miotónica tipo 1 en referencia al tiempo de evolución de la enfermedad y determinar la magnitud de desgaste en los cuidadores. Metodología: Se aplicó la escala de autonomía de Barthel a 29 pacientes y el cuestionario de Maslach a sus cuidadores. Resultados: Se demostró que las mujeres cuidadoras resultaron más afectadas en el intercambio con el enfermo para el cuidado, en la subescala despersonalización del instrumento Maslach (U de Mann-Whitney p = 0,05). Conclusiones: Se sugiere que los cuidadores femeninos son el grupo de mayor riesgo de padecer el síndrome de sobrecarga(AU)

Introduction: Myotonic dystrophy type 1 is the most common muscular dystrophy worldwide. It progresses slowly, depriving patients of their autonomy, which implies the need for a caregiver, who would often suffer from the disease as well. The overload or burnout syndrome, an English term very often found in medical bibliography, has been described for caregivers in recent years, and emotional wear is one of its features. Objective: Evaluate the autonomy to perform activities of daily living of patients with myotonic dystrophy type 1 with reference to the time of evolution of the disease, and determine the extent of wear in caregivers. Methods: A study of a clinical case series was conducted for two years at the Institute of Neurology and Neurosurgery in Havana. Patients were evaluated with the Barthel autonomy scale and caregivers with the Maslach burnout syndrome inventory. Inclusion criteria admitted patients of both sexes clinically and neurophysiologically characterized for this diagnosis. It was also required to obtain the informed consent of patients and caregivers responding to the overload measuring tool. Exclusion criteria left out patients with a dystrophic condition other than Steinert type 1, inconclusive clinical and electromyographic evaluations, or not willing to participate in the study. Results: According to the depersonalization subscale in the Maslach tool (Mann-Whitney U p = 0.05), female caregivers are more often affected by the interaction with the person cared for. Conclusions: Results suggest that female caregivers are under a greater risk of overload syndrome(AU)

Opioid-free general anesthesia and induced recovery from anesthesia in a patient with myotonic dystrophy type-1: a case report / Anestesia geral sem opioide e recuperação induzida da anestesia em paciente com distrofia miotônica tipo-1: relato de caso

Abstract Myotonic dystrophy type-1 (Steinert disease) is an autosomal dominant, progressive multisystem disease in which myotonic crisis can be triggered by several factors including pain, emotional stress, hypothermia, shivering, and mechanical or electrical stimulation. In this report, dexmedetomidine-based general anesthesia, in combination with a thoracic epidural for laparoscopic cholecystectomy in a patient with Steinert disease, is presented. An Aintree intubation catheter with the guidance of a fiberoptic bronchoscope was used for intubation to avoid laryngoscopy. Prolonged anesthetic effects of propofol were reversed, and recovery from anesthesia was accelerated using an intravenous infusion of theophylline.

Resumo A Distrofia Miotônica (DM) tipo-1 (Doença de Steinert) é uma doença multissistêmica progressiva autossômica dominante em que a crise miotônica pode ser desencadeada por vários fatores, incluindo dor, estresse emocional, hipotermia, tremores e estímulo mecânico ou elétrico. O presente relato descreve anestesia geral realizada com dexmedetomidina em combinação com peridural torácica para colecistectomia laparoscópica em paciente com Doença de Steinert. Para evitar laringoscopia, a intubação traqueal foi realizada utilizando cateter de intubação Aintree guiado por broncofibroscopia óptica. Os efeitos anestésicos prolongados do propofol foram revertidos e a recuperação anestésica foi acelerada pelo uso de infusão intravenosa de teofilina.

Taquicardia ventricular por reentrada rama - rama en pacientes con enfermedad de Steinert: serie de tres casos y revisión de la literatura / Bundle branch reentrant ventricular tachycardia in patients with Steinert´s disease: report of three cases and review of the literature

Resumen: Se presentan tres casos clínicos de pacientes con en Enfermedad de Steinert y Taquicardia ventricular recurrente asociada. En los 3 casos el diagnóstico involucró un exhaustivo estudio electrofisiológico que demostró que se trataban de TV rama a rama. Se describen los mecanismos y las maniobras electrofisiológicas para establecer el diagnóstico, como también el tratamiento. Incluye una extensa revisión bibliográfica.

Abstract This is a report of three patients with Steinert´s disease who presented with ventricular tachycardia requiring electrical cardioversion. Extensive electrophysiologic study demonstrated an underlying bundle branch ventricular tachycardia. The mechanisms and the electrophysiological approach to diagnosis are described in detail and the treatment selected is discussed. An extensive review of the literature is included.

Expresión clínica de distrofia miotónica congénita / Clinical expression of congenital myotonic dystrophy

Introducción: La distrofia miotónica congénita es la forma clínica que produce la expresión fenotípica más grave, con alta morbilidad y mortalidad en los primeros meses de vida, dadas fundamentalmente por las complicaciones respiratorias. Objetivo: Describir una serie de casos con expresión clínica de distrofia miotónica congénita. Presentación de casos: La serie estaba conformada por cuatro pacientes con diagnóstico de la enfermedad en la provincia de Pinar del Río, Cuba. El estudio se realizó entre: enero de 2015-diciembre de 2019. Se revisaron las características clínicas, epidemiológicas y genéticas de la entidad. Se analizaron los antecedentes prenatales-perinatales de cada caso, las manifestaciones fenotípicas, los antecedentes familiares y el cálculo de la prevalencia. En el 100 por ciento de los casos se presentó parto pretérmino con depresión neonatal severa e hipotonía. Entre los antecedentes prenatales se describió la disminución de los movimientos fetales y el polihidramnios en el 75 y 50 por ciento de los casos, respectivamente. La totalidad de los pacientes eran descendientes de madres afectadas. Las principales complicaciones que condujeron a morbilidad y mortalidad en el 100 por ciento de los casos fueron las relacionadas con el sistema respiratorio, trastornos hidroelectrolíticos y las infecciones asociadas. Conclusiones: En el período neonatal son importantes los antecedentes prenatales-perinatales de los pacientes con distrofia miotónica. Estos antecedentes, constituyen acontecimientos que forman parte de la secuencia de hipoquinesia fetal dada por la afectación neuromuscular intraútero. Los antecedentes familiares y sobre todo cuando la madre está afectada conducen a expresiones severas en la descendencia(AU)

Introduction: Congenital myotonic dystrophy is a clinical form that produces the most severe phenotypic expression, with high morbility and mortality in the first months of life mainly due to respiratory complications. Objective: To describe a serie of cases with clinical expression of congenital myotonic dystrophy. Cases presentation: The serie was formed by 4 patients with diagnosis of the disease in Pinar del Río province, Cuba. The study was made from January, 2015 to December, 2019. There were reviewed the clinical, epidemiological and genetic characteristics of this entity. There were analyzed prenatal and perinatal backgrounds of each case, phenotypic manifestations, the family records and the prevalence calculations. In 100 percent of the cases it was presented preterm birth with severe neonatal depression and hypotonia. Among the prenatal backgrounds, it was described the decrease of the fetal movements and polyhydramnios in the 75 and 50 percent of the cases, respectively. All the patients were descendants of affected mothers. The main complications that led to morbility and mortality in 100 percent of the cases were the ones related with the respiratory system, hydrolectrolitic disorders and associated infections. Conclusions: In the neonatal period are important the prenatal-perinatal records of patients with myotonic dystrophy. This background shows events that are part of the fetal hypokinesia´s sequence caused by intrauterine neuromuscular affectation. Family background and especially when the mother is affected lead to severe expressions in the descendants(AU)

Prepubertal gynecomastia: a rare manifestation of myotonic dystrophy type 1 / Ginecomastia pré-púbere: uma manifestação rara da distrofia miotônica tipo 1

ABSTRACT Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with bilateral breast growth. There was a family history of gynecomastia, cataracts at a young age, puberty delay, and myotonic dystrophy type 1. The physical examination showed that he had bilateral gynecomastia with external genitalia Tanner stage 1. Neurologic examination was regular, without demonstrable myotonia. The analytical study revealed increased estradiol levels and estradiol/testosterone ratio. After excluding endocrine diseases, the molecular study of the dystrophia myotonica protein kinase gene confirmed the diagnosis of myotonic dystrophy type 1. Comments: A diagnosis of prepubertal gynecomastia should include an investigation for possible underlying diseases. This case report highlights the importance of considering the diagnosis of myotonic dystrophy type 1 in the presence of endocrine and neurodevelopmental manifestations.

RESUMO Objetivo: Apresentar o caso de um adolescente pré-púbere com ginecomastia bilateral e transtorno do espectro autista, diagnosticado com distrofia miotônica tipo 1. Descrição do caso: Adolescente do sexo masculino de 12 anos, com transtorno do espectro autista, observado em consulta de seguimento por crescimento mamário bilateral. O paciente tinha antecedentes familiares de ginecomastia, catarata em idade jovem, atraso pubertário e distrofia miotônica tipo 1. À observação física, apresentava ginecomastia bilateral estádio 1 de Tanner. O exame neurológico era normal, sem miotonia aparente. O estudo analítico mostrou níveis elevados de estradiol e da relação estradiol/testosterona. Após exclusão de causas endócrinas, o estudo molecular do gene DMPK confirmou o diagnóstico de distrofia miotônica tipo 1. Comentários: Perante um quadro de ginecomastia pré-púbere, deve-se excluir doenças subjacentes. Este caso reforça a importância de considerar o diagnóstico de distrofia miotônica tipo 1 na presença de manifestações endócrinas e do neurodesenvolvimento.

Supraclavicular nerve and superior trunk block for surgical treatment of clavicle fracture in a patient with Steinert's disease - Case report / Bloqueio do nervo supraclavicular e do tronco superior para tratamento cirúrgico de fratura de clavícula em paciente portador de doença de Steinert - Relato de caso

Abstract Background and objectives: Ultrasound-guided upper limb blocks may provide great benefits to patients with serious diseases. Patients with Steinert's disease have muscle weakness and risk of triggering myotony or malignant hyperthermia due to the use of anesthetic agents and surgical stress. The objective of this report was to demonstrate a viable alternative for clavicle fracture surgery with upper trunk and supraclavicular nerve block, thus reducing the spread of local anesthetic to the phrenic nerve in a patient with muscular dystrophy. Case report: A 53-year-old male patient with Steinert's disease, associated with dyspnea, hoarseness and dysphagia, referred to the surgical theater for osteosynthesis of clavicle fracture. Upper limb (1 mL 0.75% ropivacaine) and supraclavicular nerve block (1 mL 0.75% ropivacaine in each branch) were combined with venous anesthesia with propofol under laryngeal mask (infusion pump target of 4 mcg.mL-1). Upon awakening, the patient had no pain or respiratory complaints. He was transferred to the ICU for immediate postoperative follow-up with discharge from this unit after 24 h without complications. Conclusions: The superior trunk and cervical plexus block associated with venous anesthesia under laryngeal mask, without the use of opioids, proved to be adequate in the case of a patient with clavicle fracture and Steinert's disease. With the use of ultrasonography in regional anesthesia it is possible to perform increasingly selective blocks, thus allowing greater security for the anesthetic-surgical procedure and lower morbidity for the patient.

Resumo Justificativa e objetivos: Bloqueios seletivos dos membros superiores guiados por ultrassom podem trazer grandes benefícios em pacientes portadores de doenças graves. Pacientes portadores da doença de Steinert apresentam fraqueza muscular e riscos de desencadear miotonia ou hipertermia maligna devido ao uso de agentes anestésicos e ao estresse cirúrgico. O objetivo deste relato foi mostrar uma opção viável para a cirurgia de fratura de clavícula com bloqueio do tronco superior e nervo supraclavicular, diminui-se assim a dispersão do anestésico local para o nervo frênico em paciente com distrofia muscular. Relato de caso: Paciente do sexo masculino, 53 anos, portador de doença de Steinert, associada a dispneia, rouquidão e disfagia. Encaminhado ao bloco cirúrgico para osteossíntese de fratura de clavícula. Feito bloqueio de tronco superior (1 mL ropivacaína a 0,75%) e de nervo supraclavicular (1 mL de ropivacaína 0,75 em cada ramificação) associado à anestesia venosa com propofol sob máscara laríngea (alvo de 4 mcg.mL-1 em bomba de infusão). Ao despertar, o paciente apresentava-se sem dor ou queixas respiratórias. Admitido em CTI para acompanhamento do pós-operatório imediato com alta dessa unidade após 24 horas sem intercorrências. Conclusões: O bloqueio do tronco superior e do plexo cervical associado à anestesia venosa sob máscara laríngea, sem uso de opioides, mostrou-se adequado no caso de fratura da clavícula em paciente com doença de Steinert. Com o uso da ultrassonografia em anestesia regional é possível fazer bloqueios cada vez mais seletivos e possibilitar assim maior segurança para o procedimento anestésico-cirúrgico e menor morbidade para o paciente.

Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1 / 소아과

PURPOSE: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK) gene. Our study aimed to determine whether the age of onset is correlated with CTG repeat length in a population of pediatric patients with DM1. METHODS: We retrospectively identified 30 pediatric patients with DM1 that underwent DMPK testing, of which the clinical data of 17 was sufficient. The cohort was divided into 2 subgroups based on the clinical phenotype (congenital-onset vs. late-onset) and number of CTG repeats ( < 1,000 vs. ≥1,000). RESULTS: We found no significant difference between the age of onset and CTG repeat length in our pediatric patient population. Based on clinical subgrouping, we found that the congenital-onset subgroup was statistically different with respect to several variables, including prematurity, rate of admission to neonatal intensive care unit, need for respiratory support at birth, hypotonia, dysphagia, ventilator dependence, and functional status on last visit, compared to the late-onset subgroup. Based on genetic subgrouping, we found a single variable (poor feeding in neonate) that was significantly different in the large CTG subgroup than that in the small CTG subgroup. CONCLUSION: Clinical variables exhibiting statistically significant differences between the subgroups should be focused on prognosis and designing tailored management approaches for the patients; our findings will contribute to achieve this important goal for treating patients with DM1.

Desempenho longitudinal da deglutição orofaríngea na distrofia miotônica tipo 1 / Longitudinal performance of swallowing in myotonic dystrophy type 1

RESUMO Este estudo teve por objetivo descrever o desempenho longitudinal da deglutição orofaríngea em indivíduo com distrofia miotônica tipo 1. Estudo de caso único de indivíduo de 66 anos, sexo masculino, com diagnóstico neurológico em 2010. Realizou a primeira avaliação clínica e objetiva da deglutição após quatro anos do diagnóstico neurológico. Foram realizadas sete avaliações objetivas da deglutição, por meio de videoendoscopia de deglutição, nas consistências pastosa, líquida espessada e líquida, com 3, 5, 10 ml, durante o processo de diagnóstico e gerenciamento da deglutição, por um ano e dois meses. Foram analisados sensibilidade laríngea, escape oral posterior, resíduos faríngeos, por meio da Yale Pharyngeal Residue Severity Rating Scale, penetração laríngea e/ou aspiração laringotraqueal, com aplicação da Penetration-Aspiration Scale (PAS). Constatou-se, durante o período de estudo, que não houve alteração na sensibilidade laríngea. Escape oral posterior, resíduos faríngeos e penetração laríngea estiveram presentes desde o início das avaliações objetivas. Após quatro meses da primeira avaliação, na consistência pastosa, o nível de resíduos faríngeos passou de vestígio residual para moderado, em recessos piriformes, já em valéculas, e o aumento no índice da gravidade evidenciou-se no último mês. Houve aumento na PAS em todas as consistências de alimento testadas. A presença de aspiração laringotraqueal ocorreu com líquido ralo, no último mês. Durante o período de acompanhamento da deglutição orofaríngea na distrofia miotônica tipo 1, os resíduos faríngeos e a penetração laríngea estiveram presentes desde o início das avaliações, porém, a aspiração laringotraqueal somente ocorreu no último mês do acompanhamento, com líquido ralo.

ABSTRACT The purpose of the present study was to describe the longitudinal performance of oropharyngeal swallowing in individuals with type 1 myotonic dystrophy. A single case report of a 66-year-old man with a neurological diagnosis in 2010. He was submitted to his first clinical and objective evaluation of swallowing four years after the neurological diagnosis. Seven objective evaluations of swallowing were performed by fiberopitic endoscopic evaluation of swallowing using pureed food, thickened liquid and liquid consistencies (3, 5, and 10 ml) during the diagnosis and management of swallowing over a period of one year and two months. Laryngeal sensitivity, oral spillage and pharyngeal residues were evaluated using the Yale Pharyngeal Residue Severity Rating Scale, and laryngeal penetration and/or laryngotracheal aspiration were determined using the Penetration-Aspiration Scale (PAS). No change in laryngeal sensitivity was observed during the study period, whereas oral spillage, pharyngeal residues and laryngeal penetration were observed since the beginning of the objective evaluations. Four months after the first evaluation, the level of pharyngeal residues of pureed consistency changed from trace to moderate in piriform recess, and in the vallecula the increase in the severity index was demonstrated in the last month. There was an increase in PAS score for all consistencies tested. Laryngotracheal aspiration occurred with thin liquid in the last month. During the follow-up of oropharyngeal swallowing in myotonic dystrophy type 1, pharyngeal residues and laryngeal penetration were present since the beginning of the evaluations, but laryngotracheal aspiration occurred only in the last month of follow-up and with thin liquid.

Características psicosociales en la Distrofia Miotónica de Steinert / Psychosocial characteristics in Steinert's Myotonic Dystrophy

La psicología en el siglo XXI tiene la misión de acercarse cada vez más al bienestar psicológico de las personas, tarea que está presente en la búsqueda de alternativas interdisciplinarias para el enfrentamiento a enfermedades como la Distrofia Miotónica de Steinert (DMS), enfermedad genética, neuromuscular de progresivo deterioro de la calidad de vida de quienes la padecen. Esta investigación pretende la identificación de características psicosociales de los enfermos para contribuir a la modelación futura de estrategias especializadas de asesoramiento y acompañamiento a los enfermos y a las redes de apoyo con que cuentan estos sujetos. Ha sido empleada la metodología mixta, con un predominio del enfoque cuantitativo. Fue aplicada una entrevista semiestructurada y la elaboración de un familiograma a cada uno de los 15 pacientes con Distrofia Miotónica de Steinert estudiados en el período de enero a marzo de 2016 en el Instituto de Neurología y Neurocirugía de La Habana, Cuba. Los datos recogidos en una matriz fueron procesados con ayuda del programa SPSS (20.0), aplicó el cálculo porcentual y elementos de la estadística descriptiva (media y desviación típica). Entre los resultados sobresale como elemento preocupante la falta de conocimiento previo sobre la enfermedad en estos pacientes, aun cuando muchos tienen familiares con el mismo padecimiento. Conclusión central: Dado la carencia de información evidenciada sobre estos pacientes en Cuba, se requiere de un estudio multidisciplinar de mayor alcance para contribuir al bienestar psicológico de los mismos(AU)

Psychology in the 21st century has the mission of getting closer to the psychological wellbeing of people, a task that is present in the search for interdisciplinary alternatives for the confrontation of diseases such as Steinert's Myotonic Dystrophy (DMS), genetic disease, neuromuscular disease of progressive deterioration of the quality of life of those who suffer it. This research aims to identify the psychosocial characteristics of the patients to contribute to the future modeling of specialized strategies for counseling and accompanying patients and the support networks that these subjects have. Mixed methodology has been employed, with a predominance of the quantitative approach. A semi-structured interview and the elaboration of a familiogram were applied to each of the 15 patients with Steinert's Myotonic Dystrophy studied in the period from January to March, 2016 at the Institute of Neurology and Neurosurgery of Havana, Cuba. The data collected in a matrix were processed using the SPSS program (20.0), applied the percentage calculation and elements of descriptive statistics (mean and standard deviation). Among the results, the lack of previous knowledge about the disease in these patients stands out as a worrying element, even though many have relatives with the same disease. Central Conclusion: Given the lack of information evidenced on these patients in Cuba, a multidisciplinary study of greater scope is required to contribute to the psychological wellbeing of the same ones(AU)

Etiological Classification and Developmental Outcomes in Floppy Infants: A Single Tertiary Center Experience / 대한소아신경학회지

PURPOSE: Floppy infants or congenital hypotonia indicates decreased muscle tone in infants secondary to abnormalities of the central or the peripheral nervous system, or both. Previous literature classified its causes as those attributable to a central vs. peripheral origin; however, recent studies have introduced a newer classification describing a combined origin. We invenstigated floppy infants by applying the new etiological classification and reviewed the most common etiologies based on the age of presentation. We additionally reviewed the clinical characteristics, diagnoses, and the developmental outcomes in these infants. METHODS: We retrospectively reviewed the electronic medical charts and recruited 116 infants diagnosed with floppy infant syndrome between January 2005 and December 2016 at Severance Children's Hospital. Among these infants, 66 with a confirmed diagnosis were reviewed for the etiological classification. Information regarding developmental outcomes was obtained via phone interviews with the infants' families. RESULTS: Based on the new etiological classification, among 69 infants with a confirmed diagnosis, in 40 (34.5%) this syndrome was of central origin, in 19 (16.4%) of peripheral origin, and in 10 (8.6%) of combined origin. Prader-Willi syndrome, myotonic dystrophy, and spinal muscular atrophy were the most common disorders observed and combined hypotonia showed the poorest developmental outcome. CONCLUSION: The study states the importance of proper evaluation of etiological diagnosis and optimal intervention for developmental prognosis. The introduction of a new etiological group of combined hypotonia especially emphasizes regular monitoring and timely rehabilitative intervention in patients for the better quality of life in them as well as their caregivers.

A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism

The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1. To date, there have been no genetically proven cases of DM type 1 with parkinsonism. Here, we report the first case of genetically proven DM type 1 and parkinsonism that developed ahead of muscle symptoms with bilateral putaminal, presynaptic dopaminergic deficits on imaging. A 54-year-old female patient presented with bradykinesia, axial and bilateral limb rigidity, stooped posture, and hypomimia, which did not respond to levodopa. At age 56, she developed neck flexion weakness. Examination showed bilateral facial weakness, percussion and grip myotonia, and electromyography confirmed myotonic discharges. A genetic study of DM type 1 showed a DMPK mutation. At age 58, gait freezing, postural instability, and frequent falling developed and did not respond to increasing doses of levodopa. At age 59, the patient died from asphyxia.

Clinical and genetic analysis of three pedigrees affected with myotonic dystrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To carry out clinical and genetic analysis for three pedigrees affected with myotonic dystrophy type 1 (DM1).</p><p><b>METHODS</b>Three probands with clinically diagnosed DM and their familial members were recruited. Clinical data of the patients including clinical manifestations, electrocardiogram (ECG), and electromyogram (EEG) was collected.</p><p><b>RESULTS</b>The clinical symptoms of all probands have progressed slowly and included myotonia, muscle weakness and muscle atrophy as the main manifestations. Disorders of other systems have included cataract, arrhythmia, alopecia, sexual dysfunction, and cognitive impairment. The EEG of the probands showed characteristic myotonia discharges. Genetic analysis revealed over 50 CTG repeats at the 3' end of the DMPK gene in all three probands.</p><p><b>CONCLUSION</b>DM1 is a complex hereditary disorder involving multiple systems and overlaps with other diseases. In addition to clinical symptoms and EEG, genetic testing can facilitate its diagnosis at early stages.</p>

Complicación respiratoria en el postoperatorio tardío en un paciente con distrofia miotónica tipo I. Reporte de un caso / Respiratory complication in the late postoperative period in a patient with type I myotonic dystrophy. Case report

Myotonic dystrophy is an uncommon disease, characterised by disorders of the muscle membrane. Its clinical manifestations are muscle weakness, difficulty at initiating movements and delayed muscle relaxation. Carriers of this disease are very sensitive to anaesthetic drugs. Residual neuromuscular blockade is common among these patients, leaving them at risk of various postoperative complications. Proper neuromuscular blockade reversal is therefore crucial. We report the case of an 18-year-old male with myotonic dystrophy type I (Steinert's disease), who was admitted for a complicated hydatid cyst. He required a laparotomy, which was done under general anesthesia with no intraoperative incidents. He was extubated at the end of the procedure, with 94% response at the train-of-four (TOF) and adequate spontaneous ventilation. No reversal for neuromuscular blockade was given. The patient evolved favourably during the postoperative phase. However, in the later postoperatory period the patient presented severe respiratory complications. Proper anaesthetic management of these patients, as described in the literature, includes the use of non-depolarising muscle relaxants, monitoring of muscle relaxation and reversal of neuromuscular blockade. The combination of rocuronium and sugammadex appears to convey the optimum reversal required for these cases.

Las distrofias miotónicas son enfermedades poco comunes, caracterizadas por trastornos a nivel de la membrana muscular. Clínicamente se manifiestan por debilidad muscular progresiva, dificultad al iniciar movimientos y retardo en la relajación muscular. Los portadores de este grupo de enfermedades tienen una marcada sensibilidad a los fármacos anestésicos. Es habitual que presenten bloqueo neuromuscular residual, arriesgándose a sufrir diversas complicaciones postoperatorias. Por ello, es importante realizar una reversión adecuada de la relajación muscular en estos pacientes. Presentamos el caso de un paciente masculino de 18 años, con distrofia miotónica de Steinert tipo I, que ingresa para laparotomía por quiste hidatídico hepático complicado. Recibió anestesia general sin incidentes. Es extubado con una respuesta al tren-de-cuatro (TOF) de 94% y ventilación espontánea adecuada. No se realiza reversión del bloqueo neuromuscular y evoluciona favorablemente en el postoperatorio inmediato. Sin embargo, en el período postoperatorio tardío, presenta complicaciones respiratorias severas. El adecuado manejo de estos pacientes, según lo recomendado en la literatura, requiere el uso de relajantes no-depolarizantes, monitorización y reversión del bloqueo neuromuscular, siendo probablemente la combinación de rocuronio y sugammadex, la más adecuada para estos fines.

Taquicardia ventricular como expresión de distrofia miotónica tipo 1 / Type I myotonic dystrophy presenting with ventricular tachycardia

Abstracts: A 48-year-old woman was brought to the emergency room with ventricular tachycardia that was eventually terminated by cardioversion. Clinical and neurologic evaluation, including electromyography were highly suggestive of type I Myotonic Dystrophy and genetical studies confirmed the diagnosis. A discussion about the diagnostic procedures and management of the disease, especially the associated ventricular tachycardia, is included.

Manejo ventilatorio no invasivo de un paciente con enfermedad de Steinert / Non-invasive ventilatory management of a patient with Steinert's disease

Introducción: la enfermedad de Steinert es una enfermedad neuromuscular crónica y progresiva de carácter autosómico dominante. Debido a que puede afectar a los músculos respiratorios, los pacientes se benefician de distintas técnicas de fisioterapia con el fin de evitar complicaciones. Caso clínico: paciente con enfermedad de Steinert que fue tratada en un hospital público de la provincia de Buenos Aires durante un cuadro de insuficiencia respiratoria aguda, de manera no invasiva. Comentarios: esta experiencia muestra que estos pacientes pueden ser tratados de manera no invasiva, fuera de la unidad de cuidados intensivos, y ser controlados ambulatoriamente luego de su egreso pudiendo reinsertarse en la comunidad. Asimismo, cabe destacar que esto fue posible en un hospital público, dentro de un contexto institucional y socioeconómico desfavorable(AU)

Introduction: Steinert's disease is a chronic and progressive autosomal dominant neuromuscular disease. Because this disease can affect respiratory muscles, these patients benefit from different physiotherapy techniques in order to avoid complications. Case presentation: patient with Steinert's disease who was treated in a Public Hospital of the Province of Buenos Aires during an acute respiratory failure with non-invasive way. Comments: This experience shows that these patients can be treated non-invasively, outside the intensive care unit, and be controlled outpatient after discharge, being able to be reinserted in the community. It should also be noted that this was possible in a public hospital, within an unfavorable institutional and socio-economic context(AU)

Cardiodesfibrilador implantável na prevenção de morte súbita em paciente com distrofia muscular tipo 1 (doença de Steinert) / Implantable cardiac defibrillator for sudden death prevention in myotonic dystrophy type 1 (Steinert disease)

A distrofia muscular tipo 1 é uma miopatia hereditária genética com alto risco de morte súbita. Como a morte súbita é um evento comum, existe o desafio de identificar o paciente de maior risco para considerar a colocação de um cardiodesfibrilador implantável. O presente estudo relata o caso de um paciente com distrofia muscular tipo 1 com marcadores de alto risco para morte súbita, no qual foi implantado um cardiodesfibrilador implantável com sucesso. A correta estratificação para morte súbita é um importante passo na indicação do cardiodesfibrilador implantável

Myotonic dystrophy type 1 is a genetic and hereditary myopathy associated to a high risk of sudden death. As sudden death is a relatively common event, it is a challenge to identify those patients with highest risk to consider the use of an implantable cardiac defibrillator. The present case report describes a myotonic dystrophy type 1 patient with risk factors for sudden death in whom an implantable cardiac defibrillator was successfully implanted. The correct risk stratification for sudden death is an important step for the indication of an implantable cardiac defibrillator

Múltiplas causas de síncope em pacientes com distrofia miotônica tipo I / Multiple causes of syncope in patients with myotonic dystrophy type I

A distrofia miotônica é a doença neuromuscular mais frequente na população adulta. Embora tenha caráter multissistêmico, apresenta especial predileção pelo sistema de condução cardíaco, manifestando-se tanto com bloqueios atrioventriculares como com taquiarritmias ventriculares e supraventriculares. O foco deste trabalho é apresentar, através do relato de um caso, a importância de uma investigação mais detalhada dos casos de síncope em pacientes portadores de distrofia miotônica, pois alterações inaparentes e potencialmente graves podem passar despercebidas

Myotonic dystrophy is the most frequent neuromuscular disease in the adult population. Although it is a multisystem disease, it usually has a special preference for the cardiac conduction system manifesting itself as atrioventricular conduction block and as ventricular and supraventricular tachyarrhythmias. The focus of this work is to use a case report to demonstrate the importance of a more detailed investigation of syncope in patients with myotonic dystrophy, since unapparent and potentially serious changes may go by unnoticed

Radiofrequency Catheter Ablation of Persistent Atrial Fibrillation with Myotonic Dystrophy and Achalasia-like Esophageal Dilatation

Myotonic dystrophy, a multi-systemic disease with cardiac involvement, is the most common inherited neuromuscular disease. Here, we report the results of radiofrequency catheter ablation of persistent atrial fibrillation in a patient with myotonic dystrophy and achalasia-like esophageal dilatation.

Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I

PURPOSE: Myotonic dystrophy type 1 (DM1) is characterized by progressive muscular weakness with symptoms caused by involvement of the brain. The aim of this study was to delineate global changes in cortical thickness and white matter integrity in patients with DM1, compared to age-matched healthy controls, and in brain areas highly correlated with CTG repeat size. MATERIALS AND METHODS: Cortical thickness and white matter integrity were compared in nine adult DM1 patients and age matched healthy controls using T1-weighted and diffusion tensor imaging. The patients' intelligence quotient (IQ) and CTG repeat size were measured in each individual. RESULTS: Cortical thickness was significantly reduced in the frontal, temporal, and occipital cortices, while tract-based spatial statistics showed decreased diffusion metrics in widespread areas, including the bilateral orbitofrontal, anterior frontal, insular, external capsule, and occipital cortices in DM1 patients, compared to controls. Additionally, thickness was negatively correlated with the number of CTG repeats in those areas. White matter integrity was negatively correlated with CTG repeats in the left entorhinal, anterior corona radiata, orbitofrontal, and lateral occipital areas. No statistically significant correlation was found between IQ scores and the size of CTG repeats. CONCLUSION: Our results suggest that DM1 is associated with wide distributions of network changes in both gray and white matter. Some of areas related to cognition showed significant correlations with CTG repeats.