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)

Delineación epidemiológica y fenotípica de la distrofia miotónica de Steinert / Epidemiologic and phenotypic delineation of Steinert's myotonic dystrophy

RESUMEN Introducción: la distrofia miotónica de Steinert es una enfermedad neuromuscular hereditaria, cuya prevalencia global es 1/8000. Tiene expresividad clínica muy variable. Objetivo: delinear las características epidemiológicas y fenotípicas en la distrofia miotónica de Steinert. Métodos: se realizó una investigación descriptiva, en Pinar del Río, desde el mes de enero del año 2019 hasta marzo del 2021. Se buscaron en bases de datos de Genética Clínica, los individuos con diagnóstico confirmado, y a partir de estos se confeccionaron las genealogías. Se realizó una pesquisa clínica activa para todos los miembros consanguíneos. Se usaron como instrumentos, la historia clínica genética y una planilla con datos del examen clínico. Resultados: el 79,3 % de los casos se diagnosticaron después del estudio de las genealogías, en estas fueron identificadas 11 familias con 87 miembros. Se registró prevalencias de 6 y 4,1 x 10 000 habitantes en los municipios Minas de Matahambre y Viñales respectivamente, según el lugar natural de las personas, las cuales disminuyeron con la migración hacia el municipio Pinar del Río. Existe una correlación entre la edad de inicio y la del diagnóstico de la enfermedad. Entre las formas clínicas y el tipo de herencia no se encontraron diferencias significativas X2= 12,58 p=0,127220653. Fenotípicamente la ptosis palpebral y la debilidad muscular están presentes en el 89,6 % y el 82,7 %. Conclusiones: la delineación epidemiológica y fenotípica, mediante la pesquisa activa en las familias, permite el seguimiento y conductas individualizadas que redundan en mayor satisfacción y calidad de vida.

ABSTRACT Introduction: Steinert's myotonic dystrophy is a neuromuscular hereditary disease, which global prevalence is 1/8000. It has a very variable clinical expression. Objective: to delineate the epidemiologic and phenotypic characteristics of Steinert's myotonic dystrophy. Methods: a descriptive research was conducted in Pinar del Rio from January 2019 to March 2021. The databases of Clinical Genetics were reviewed, making the genealogies of the individuals with a confirmed diagnosis; an active clinical survey was carried out for all of the blood relative members. Clinical-genetic history and a form including the data of the clinical examination were used as instruments. Results: the 79,3 % of the cases were diagnosed after the study of their genealogies, where 11 families with 87 members were identified. The prevalence reached 6 and 4,1 x 10 000 inhabitants in Minas de Matahambre and Viñales municipalities respectively and according to the place of birth of these individuals, which have decreased due to the immigration to Pinar del Rio municipality. Between the clinical forms and the type of inheritance, no significant differences were found X2= 12,58 p=0,127220653. Palpebral ptosis and muscular weakness are phenotypically present in 89,6 % and 82,7 % of the individuals. Conclusions: the epidemiologic and phenotypic delineation during the active survey in families allows carrying out the follow-up and to establish individualized actions which will result in greater satisfaction and quality of life.

Manejo anestésico en la enfermedad de Steinert. A propósito de un caso / Anesthetic management in Steinert's disease: case report

Resumen: Se presenta el caso de paciente masculino, de 60 años, programado para resección transuretral de próstata. Como antecedentes destacan enfermedad de Steinert e implantación de marcapasos. La enfermedad de Steinert es el antecedente principal que guiará nuestra práctica anestésica y, tras valorar el tipo de intervención prevista, se decide anestesia locorregional, dadas las potenciales complicaciones que pueden presentar estos pacientes con la anestesia general. La conducta anestésica de los pacientes con enfermedad de Steinert supone un reto para el anestesiólogo tanto por la gran cantidad de complicaciones que pueden aparecer en el intra- y en el postoperatorio, como por la baja frecuencia de esta enfermedad. Además, el estrés quirúrgico y las técnicas utilizadas pueden interferir en el curso de la enfermedad. Por todo ello, el abordaje y los cuidados intra- y postoperatorios se deben planificar y seleccionar con cuidado con el fin de obtener los mejores resultados y extremar la seguridad del paciente.

Abstract: A 60-year-old man with prostatic hypertrophy was scheduled for transurethral resection of the prostate. Steinert's disease and implantation of a pacemaker were his previous pathology. Being Steinert's disease the most relevant clinical characteristic and the type of intervention urologist has planned, we decide locoregional anesthesia technique, avoiding the potential complications that these patients may present with general anesthesia. The anesthetic management of Steinert's disease patients is a challenge for the anesthesiologist both due to the large number of complications that may appear during intra- and postoperative time as well as the low frequency of this pathology. In addition, surgical stress and the techniques we use can interfere with the course of the disease. Therefore, the approach and immediate intra-and postoperative care should be carefully planned and selected in order to obtain the best results and maximize patient safety.

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.

Reporte de familias con distrofia miotónica de Steinert pesquisadas en la Atención Primaria de Salud / Report of families with Steinert´s Myotonic Dystrophy surveyed in Primary Health Care

RESUMEN Introducción: la distrofia miotónica de Steinert. Es una enfermedad heredo familiar con patrón de transmisión autosómico dominante. Objetivo: describir familias con distrofia miotónica de Steinert pesquisadas en la Atención Primaria de Salud. Presentación de familias: se trata de una muestra de 126 miembros pertenecientes a dos familias, residentes en la provincia Pinar del Río, Cuba, en la que varios de sus miembros tenían diagnosticada la enfermedad. Se realizó un pesquisaje durante el año 2019, y entre enero y marzo del 2020, a cada miembro de ambas familias, se les completó las genealogías y evaluaron las características clínicas. Se trabajó con algunas variables relacionadas con las formas clínicas de la enfermedad según las generaciones. Resultados: se presentaron mediante el árbol genealógico dos familias, con 40 y 86 miembros, de los municipios de Minas de Matahambre y Pinar del Río respectivamente. En el primer municipio se registraron nueve personas con la forma leve y clásica de la enfermedad, de estas más de la mitad no conocían su condición, 21 personas eran aparentemente sintomáticas. En el segundo municipio, 21 casos fueron evaluados con alguna forma clínica de la enfermedad, que con respecto al total de casos pesquisados representaron el 26,5 %. Conclusiones: es esencial la pesquisa a las familias con distrofia miotónica de Steinert, ya que existe una disociación de los signos clínicos y expresión variable de la enfermedad. Es la Atención Primaria de Salud el escenario que permite el diagnóstico precoz y manejo multidisciplinario.

ABSTRACT Introduction: the dystrophy miotónica of Steinert. It is an illness I inherit family with pattern of transmission dominant autosómico. Objective: to describe families with Steinert´s Myotonic Dystrophy, surveyed in Primary Health Care. Report of families: it is about a sample of 126 members belonging to two families, in which several of their members had been diagnosed with the entity; both families are from Pinar del Río province, Cuba. A survey was conducted during 2019, and between January and March 2020, each member of both families had their genealogies completed and their clinical characteristics evaluated; working with some variables related to the clinical types of this entity according to the generations. Results: two families were presented through the genealogical tree, with 40 and 86 members from the municipalities of Minas de Matahambre and Pinar del Río municipalities respectively. In the first municipality, nine persons (9) were registered with the mild and classic type of the disease, of these more than 50 % did not know their condition, and 21 persons were apparently symptomatic. In the second municipality, 21 cases were evaluated some clinical characteristics of the disease, which with respect to the total number of cases surveyed represented 26,5 %. Conclusions: it is essential to study families with Steinert's Myotonic Dystrophy, since there is a dissociation of clinical signs and variable expression of the disease. It is the Primary Health Care the setting which allows early diagnosis and multidisciplinary management of this disease.

[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 tipo­1: relato de caso.

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.

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)

Distrofia miotónica de Steiner en una familia. Presentación de casos / Myotonic Steiner dystrophy in a family. Case Presentation

RESUMEN La distrofia miotónica tipo I o enfermedad de Steinert es de origen genético autosómica dominante. Se caracteriza por alteraciones multisistémicas como músculo-esqueléticas, cardiacas, oculares, endocrinas y las más manifiestas que suelen ser neurológicas. El diagnóstico se establece por datos clínicos, electromiografía y estudios genéticos. Hasta ahora el tratamiento es únicamente sintomático. Se presenta el caso de una familia con enfermedad de Steinert, en la cual madre e hijo poseen las manifestaciones clínicas y electromiográficas de la enfermedad.

ABSTRACT Myotonic dystrophy type I or Steinert's disease is of autosomal dominant genetic origin. It is characterized by multisystemic alterations such as musculoskeletal, cardiac, ocular, and endocrine and the most manifest that are usually neurological.The diagnosis is established by clinical data, electromyography and genetic studies. So far the treatment is only symptomatic. The case of a family with Steinert's disease is presented, in which mother and son present the clinical and electromyographic manifestations of the disease.

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.

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.

Implicaciones anestésicas de las distrofias musculares / Anesthetic implications of muscular dystrophies

Abstract Introduction: Muscular dystrophies are a group of genetic diseases characterized by the compromised synthesis or regeneration of the muscle contractile proteins. Although they belong to the same group of diseases, they have different characteristics in their clinical presentation and in their genetic origin. These diseases are classified as orphan as they have a low incidence among the general population, but represent a huge anesthetic challenge, particularly among the pediatric population. Objective: To describe the main clinical aspects of muscular dystrophies, their etiology, anesthetic implications, and the major complications that may occur during the perioperative management. Methodology: A review article is discussed based on a systematic search of the literature to produce a descriptive review. The main source of information is case reports obtained from databases as PubMed, Google Scholar, and websites specialized in rare diseases, to describe the main anesthetic implications of muscular dystrophies. Results: A total of 65 references were identified by the authors in accordance with the relevance of the topic for the final review. Conclusion: Muscular dystrophies are a heterogeneous group of diseases that share a common etiology due to direct injury of the muscle fiber with a progressive and systemic compromise. Each type of muscular dystrophy is different in terms of its clinical presentation, genetic origin, and anesthetic risks which are mainly cardiovascular complications due to malignant arrhythmias, acute rhabdomyolysis triggered by drugs used in anesthesia, and perioperative respiratory failure.

Resumen Introducción: Las distrofias musculares son un grupo de enfermedades genéticas que se caracterizan por compromiso en la síntesis o regeneración de las proteínas contráctiles del musculo. Aunque pertenecen al mismo grupo de enfermedades tienen características muy diferentes en su presentación clínica y en su origen genético. Estas enfermedades se clasifican como huérfanas debido a que tienen una incidencia muy baja en la población general, pero representan un enorme reto anestésico, especialmente en la población pediátrica. Objetivo: Describir los principales aspectos clínicos de las distrofias musculares, su etiología, implicaciones anestésicas y principales complicaciones que pueden ocurrir durante el perioperatorio. Metodología: Se presenta un artículo de revisión basado en una búsqueda sistemática de la literatura para una revisión descriptiva, donde la principal fuente de información son los reportes de caso obtenidos en las bases de datos de pubmed, google académico y páginas web especializadas en enfermedades raras, con el propósito de describir las principales implicaciones anestésicas de este grupo de enfermedades. Resultados: Se obtuvo un total de 65 referencias bibliográficas las cuales fueron seleccionadas por los autores de acuerdo con la relevancia del tema para la revisión final. Conclusión: Las distrofias musculares son un grupo heterogéneo de enfermedades que comparten una etiología común que es la lesión directa en la fibra muscular con un compromiso sistémico progresivo. Se diferencian en su presentación clínica, origen genético y riesgos anestésicos que son principalmente complicaciones cardiovasculares por arritmias malignas, rabdomiolisis aguda desencadenada por fármacos utilizados en la anestesia y falla respiratoria perioperatoria.

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)

Manejo anestésico en paciente pediátrico con distroña miotónica tipo 1. Reporte de caso / Management of anesthesia in a pediatric patient with myotonic dystrophy type 1. Case report

Abstract Myotonic dystrophy is a disease affecting the muscle fibers with loss of muscle mass. The principal characteristic of the disease is myotony or slow muscle relaxation following muscle contraction that is further aggravated as a result of stress, pain, cold, or by the administration of succinylcholine. Similar to other muscle pathologies, myotonic dystrophy is considered a multisystem disorder, usually with cardiac and respiratory involvement, a fact to be kept in mind when planning anesthesia. Moreover, there is a potential association with malignant hyperthermia or rhabdomyolysis associated with some muscle diseases. The case herein discussed is an example of the management of anesthesia in this group of patients to avoid the potential triggers of a myotonic crisis.

Resumen La distrofia miotónica es una enfermedad de las fibras musculares que cursa con pérdida de masa muscular y cuya característica principal es la miotonía, que describe la relajación muscular lenta tras una contracción muscular, situación agravada por estrés, dolor, frío, o por la administración de succinilcolina. Como toda enfermedad muscular, es considerada multisistémica, con afectación cardíaca y respiratoria en la mayoría de los casos, lo cual deberá tenerse en cuenta a la hora de elaborar un plan anestésico. Además, se debe considerar la posible relación con el desarrollo de hipertermia maligna o rabdomiólisis asociada a algunas enfermedades musculares. El caso que presentamos es un ejemplo del manejo anestésico de estos pacientes evitando los posibles desencadenantes de una crisis miotónica.

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.

Distrofia miotónica tipo 1: reporte de un caso de un paciente colombiano / Myotonic dystrophy type 1: case report of a colombian patient

Introducción: La distrofia miotónica es una enfermedad poco frecuente de origen genético. Se produce por aumento de repeticiones de la tripleta CTG en el gen DMPK (locus 19q13.32), o por aumento de repeticiones de CCTG en el gen ZNF9 (locus3q21.3). Su fenotipo es variable y sus principales características son la debilidad muscular progresiva y la miotonía. El objetivo de esta publicación es reportar un caso colombiano de distrofia miotónica tipo 1 con diagnóstico molecular y contribuir a la construcción de datos epidemiológicos locales sobre esta patología. Además, aportar información a médicos generales, pediatras, internistas, fisiatras, neurólogos, y en general al personal de salud que puede tener contacto con pacientes con debilidad muscular progresiva, escenario en el cual la distrofia miotónica es una posibilidad diagnóstica a considerar. Descripción del caso: Hombre de 37 años, con historia de pobre succión neonatal, retraso en los hitos del desarrollo, discapacidad intelectual y, en la adolescencia, aparición de debilidad progresiva generalizada, miotonía y disfagia. El Southernblot y PCR del gen DMPK mostraron un alelo expandido en un rango entre 1100 a 1700 repeticiones del triplete CGT y un alelo normal, confirmando el diagnóstico de distrofia miotónicatipo 1. Conclusión: El paciente aquí reportado presentó fenotipo sugestivo de DM1; el diagnóstico fue confirmado con la prueba molecular. Con el resultado fue posible realizar una consejería genética adecuada y brindar información sobre la enfermedad.

Introduction: Myotonic dystrophy (MD) is a rare genetic disease. It is produced by an increased repetition of the CTG triplet in the DMPK gene (locus 19q13.32), or by increasing repetitions of CCTG in the ZNF9 gene (locus 3q21.3). Its phenotype is variable, and its key features are progressive muscle weakness and myotonia. The aim of this publication is to report a Colombian case of myotonic dystrophy type 1 with molecular diagnosis and to contribute to the construction of local epidemiological data on this pathology. Also, to provide information to general practitioners, pediatricians, internists, physiatrists, neurologists, and health personnel who may have contact with patients with progressive muscle weakness, scenario in which myotonic dystrophy is a diagnostic possibility to be considered. Case description: Thirty-seven year old male with a history of poor neonatal suction, delay in developmental milestones, intellectual disability and, in adolescence, the onset of progressive generalized weakness, myotonia and dysphagia. Southern blot and PCR of DMPK gene showed one expanded allele in a range between 1100-1700 repetitions of the CGT triplet and one normal allele, confirming the diagnosis of myotonic dystrophy type 1. Conclusion: The patient reported here presented a phenotype suggestive of myotonic dystrophy type 1; the diagnosis was confirmed by molecular testing. This result made it possible to offer a proper genetic counseling and provide information about the disease.

Myotonic dystrophy type 1: frequency of ophthalmologic findings / Distrofia miotônica tipo 1: frequência dos achados oftalmológicos

ABSTRACT The purpose of the study was to evaluate the frequency of ophthalmologic abnormalities in a cohort of myotonic dystrophy type 1 (DM1) patients and to correlate them with motor function. We reviewed the pathophysiology of cataract and low intraocular pressure (IOP). Method Patients were included after clinical and laboratory diagnosis and after signed informed consent. They were evaluated by Motor Function Measure scale, Portuguese version (MFM-P) and ophthalmic protocol. Results We evaluated 42 patients aged 17 to 64 years (mean 40.7 ± 12.5), 22 of which were men. IOP (n = 41) was reduced in all but one. We found cataract or positivity for surgery in 38 (90.48%) and ptosis in 23 (54.76%). These signs but not IOP were significantly correlated with severity of motor dysfunction. Abnormalities in ocular motility and stereopsis were observed. Conclusion Cataract and ptosis are frequent in DM1 and associated to motor dysfunction. Reduced IOP is also common, but appears not to be related with motor impairment.

RESUMO O objetivo do estudo foi avaliar a frequência das anormalidades oftalmológicas em uma coorte de pacientes com distrofia miotônica tipo 1 (DM1) correlacionando-as à função motora. Revisamos a fisiopatogenia da catarata e baixa pressão intraocular (PIO). Método Os pacientes foram incluídos após diagnóstico clínico-laboratorial de DM1. Aqueles que assinaram o termo de participação foram avaliados pela escala medida da função motora, versão em português (MFM-P) e protocolo oftalmológico. Resultados Avaliamos 42 pacientes de 17 a 64 anos (média 40,7 ± 12,5), 22 do sexo masculino. Encontramos catarata ou positividade de cirurgia em 38 (90,48%) e blefaroptose em 23 (54,76%) e esses sinais foram correlacionados significativamente à maior gravidade da disfunção motora. Baixa PIO também foi comum e não correlacionada à gravidade motora. Alterações da motilidade ocular e de estereopsia ocorreram. Conclusão Catarata e ptose palpebral são frequentes na DM1 e associadas à gravidade motora. Baixa PIO é comum e parece ser independente da evolução motora.

Embarazada con enfermedad de Steinert. Presentación de un caso / Pregnant with Steinert disease. A case presentation

Se hace el reporte de un caso de enfermedad de Steinert en una mujer de 24 años de edad con diagnóstico realizado por la clínica, complementarios hemáticos, electromiografía y biopsia de músculo, que acude con embarazo de aproximadamente 32 semanas casi asintomática, con miotonía o fenómeno de Steinert en ambas manos y ligeros síntomas de debilidad al realizar esfuerzos físicos. Se realizó cesárea a las 39.3 semanas, con buen resultado para la madre; el recién nacido resultó masculino con apgar 9/9, 2650 gramos de peso y sin estigmas de haber heredado la forma neonatal grave de esta enfermedad (AU)

A case of a 24 years old pregnant woman is reported with Steinert disease with clinical diagnosis, hematic complementary, electromyography and muscle biopsy, that arrived which comes with approximately 32 weeks pregnancy almost asymptomatic, with myotonia or Steinert phenomenon in both hands and light symptoms of weakness to physical efforts. the 39.3 weeks c-section, was carried out with good result for the mother; the newborn baby was male with 9/9 apgar, 2650 gram weight and without the stigma of having inherited the severe neonatal form of this disease. A 39.3 weeks caesarian section was carried out with good result for the mother; the newborn baby was male with 9/9 apgar, 2650 gram weight and without the stigma of having inherited the severe neonatal form of this disease (AU)

Guía de práctica clínica para la detección temprana, atención integral, seguimiento y rehabilitación de pacientes con diagnóstico de distrofia muscular. Guía para padres y cuidadores / Clinical practice guide for early detection, comprehensive care, monitoring and rehabilitation of patients diagnosed with muscular dystrophy. Guide for parents and caregivers

La Guía desarrollará recomendaciones para la atención integral de pacientes con sospecha o diagnóstico de distrofia muscular de Duchenne, Becker, miotónica, facioescapulohumeral y de cinturas. No están incluidos los pacientes con distrofias musculares congénitas (enfermedad de Ullrich, síndrome de espina rígida, enfermedad multinúcleo, distrofia muscular congénita por déficit de Merosina), ni con la distrofia muscular Emery Dreifuss.

Catarata bilateral en paciente con síndrome de Steinert: presentación de un caso / Bilateral cataract in a patient with Steinert syndrome: a case report

FUNDAMENTO: la distrofia miotónica, o enfermedad de Steinert, es una enfermedad multisistémica de herencia autosómica dominante con penetrancia casi completa y expresividad variable. OBJETIVO: describir un caso atendido con catarata bilateral asociado a la enfermedad, diagnosticado y tratado en el Centro Oftalmológico de la provincia de Camagüey desde julio a diciembre de 2013. CASO CLÍNICO: se presenta el caso de una paciente femenina, de 31 años de edad, con antecedentes patológicos generales de presentar un síndrome de Steinert, con cuadro de disminución lenta y progresiva de la visión de varios años de evolución que avanzó de forma rápida a raíz del embarazo y que provocó reducción de la misma en ambos ojos a los tres meses del parto, diagnosticándose catarata bilateral. Se realizaron iridotomías láser en ambos ojos y extracción extracapsular del cristalino con implante de lente intraocular (LIO), a los tres meses se alcanzó una agudeza visual mejor corregida de 1.0 en ambos ojos. CONCLUSIÓN: se evidenció que con la aplicación de un método clínico adecuado se garantizó un resultado visual satisfactorio, aún en enfermedades poco comunes

BACKGROUND: myotonic dystrophy or Steinert disease is a multisystemic disease that displays an autosomal dominant pattern of inheritance with an almost complete penetrance and it can present various ways of presentation. OBJECTIVE: to describe a case treated for bilateral cataract associated to Steinert syndrome. The patient was diagnosed and treated in the Ophthalmologic Center in the province of Camagüey from July to December, 2013. CLINICAL CASE: the case of a thirty-one-year-old female patient with a general pathological history of Steinert syndrome is presented. Her symptoms included a slow and progressive diminution of vision of some years of evolution that quickly advanced because of pregnancy and caused her reduction of sight in both eyes three months after giving birth. The patient was diagnosed with bilateral cataract in the course of the disease. Laser iridotomies were made in both eyes, as well as the extracapsular extraction of the lens with implant of intraocular lenses (IOL). Three months later, a better corrected visual acuity of 1.0 in both eyes was achieved. CONCLUSION: it was shown that with the application of an adequate clinical method, a satisfactory visual result can be guaranteed, even for uncommon diseases.

Guía de práctica clínica para la detección temprana, atención integral, seguimiento y rehabilitación de pacientes con diagnóstico de distrofia muscular. Guía para los profesionales de la salud / Clinical practice guide for early detection, comprehensive care, monitoring and rehabilitation of patients diagnosed with muscular dystrophy. Guide for health professionals

La Guía desarrollará recomendaciones para la atención integral de pacientes con sospecha o diagnóstico de distrofia muscular de Duchenne, Becker, miotónica, facioescapulohumeral y de cinturas. No están incluidos los pacientes con distrofias musculares congénitas (enfermedad de Ullrich, síndrome de espina rígida, enfermedad multinúcleo, distrofia muscular congénita por déficit de Merosina), ni con la distrofia muscular Emery Dreifuss.