Tarjeta de emergencias médicas para la enfermedad de Steinert: una necesidad desatendida / Medical emergency card for Steinert’s disease: an unmet need

Introducción: La distrofia miotónica de tipo 1 (DM1), o enfermedad de Steinert (ORPHA 273; OMIM #160900), es un trastorno de origen genético poco frecuente con manifestaciones musculares (debilidad muscular y miotonía), cataratas de inicio temprano (antes de los 50 años) y manifestaciones sistémicas (cerebral, endocrina, cardíaca, del tubo digestivo, del útero, de la piel y del sistema inmunitario). Su expresividad clínica es muy variable y se extiende desde formas letales en la lactancia hasta una enfermedad leve de aparición tardía. Su baja frecuencia impide que los profesionales de urgencias médicas se familiaricen con las precauciones imprescindibles para su tratamiento. Con el propósito de paliar esta falta de información, los afectados por DM1 disponen, en los países de nuestro entorno, de una tarjeta de emergencia médica (TEM) que el paciente siempre debe llevar consigo y entregar al facultativo antes de recibir asistencia urgente. Objetivos: Definir la TEM, describir las TEM para la DM1 ya implantadas y enumerar las ventajas para pacientes y profesionales que supone su utilización. Material y métodos. Se describen algunas de las TEM para la DM1 actualmente en uso en Francia y el Reino Unido. Resultados: Se exponen pormenorizadamente los argumentos que justifican su implantación en nuestro medio.Conclusiones: La TEM para la DM1 gestionada por un facultativo puede mejorar la asistencia en emergencias médicas de los pacientes afectados por la enfermedad de Steinert.

Introduction: Myotonic dystrophy type 1 (DM1) or Steinert’s disease (ORPHA 273; OMIM #160900) is a rare disorder of genetic origin with muscular manifestations (muscle weakness and myotonia), early-onset cataracts (before 50 years of age) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immune system). Its clinical expressivity is highly variable and ranges from lethal forms in infancy to mild late-onset disease. Its low frequency prevents emergency medical professionals from becoming familiar with the essential precautions for its treatment. In order to alleviate this lack of information, those affected by DM1 have, in the countries of our environment, a medical emergency card (Tarjeta de Emergencias Médicas, TEM) that the patient should always carry with him/her and give to the physician before receiving emergency care. Objectives: To define the TEM. To describe the TEM for DM1 already implemented. To list the advantages for patients and professionals of their use. Material and methods: Some of the TEM for DM1 currently in use in France and the United Kingdom are described. Results: The arguments justifying their implantation in our setting are presented in detail. Conclusions: The TEM for DM1 managed by a physician can improve the emergency medical care of patients affected by Steinert’s disease.(AU)

Alteración cognitiva en la distrofia miotónica tipo 1 (enfermedad de Steinert) / Cognitive impairment in myotonic dystrophy type 1 (Steinert's disease)

Tradicionalmente se ha reconocido que los enfermos con distrofia miotónica tipo 1 (DM-1), o enfermedad de Steinert, presentan una conducta muy característica, dejando aparte aquellos casos en que existe patología mental o un retraso del neurodesarrollo. Se describe el sustrato neurológico de dicha conducta. El objetivo de este texto es doble. Por una parte, se pretende que los clínicos, ante un paciente con DM-1, consideren siempre los aspectos cognitivos de la enfermedad. Por otra, se busca desmontar ideas preconcebidas sobre el peculiar comportamiento de estos pacientes (AU)

raditionally, it has been recognized that patients with myotonic dystrophy type 1 (MD-1) – also known as Steinert disease –, they show a specific behaviour, not including those who suffer from mental or neurodevelopmental diseases. The neurological substrate of this behaviour is described. The aim of this text has two purposes. The first intention is that clinical staff, when faced with a patient with MD-1, always consider the cognitive aspects of the disease. On the other hand, it is intended to combat preconceived ideas about the particular behaviour of these patients (AU)

[Cognitive impairment in myotonic dystrophy type 1 (Steinert's disease)]. / Alteración cognitiva en la distrofia miotónica tipo 1 (enfermedad de Steinert).

Traditionally, it has been recognized that patients with myotonic dystrophy type 1 (MD-1) - also known as Steinert disease -, they show a specific behaviour, not including those who suffer from mental or neurodevelopmental diseases. The neurological substrate of this behaviour is described. The aim of this text has two purposes. The first intention is that clinical staff, when faced with a patient with MD-1, always consider the cognitive aspects of the disease. On the other hand, it is intended to combat preconceived ideas about the particular behaviour of these patients.

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)

Distrofia miotónica de tipo 1: una serie de 107 pacientes / Myotonic dystrophy type 1: a series of 107 patients

Introducción: La distrofia miotónica de tipo 1 (DM1) es la distrofia muscular más frecuente en adultos, aunque puede comenzar a cualquier edad. Genéticamente determinada y de transmisión dominante, se caracteriza por la afectación constante, aunque variable, de múltiples sistemas. Pacientes y métodos: Se analizaron retrospectivamente datos de 107 pacientes con diagnóstico genético de DM1 en seguimiento en una unidad de referencia nacional en enfermedades neuromusculares raras. Se recopilaron datos demográficos y clínicos de un período de seguimiento de siete años. Resultados: El 66,4% de los pacientes comenzó en la edad adulta. El 35,5% tenía debilidad distal exclusiva y la mayoría (63,6%) presentaba miotonía clínica. Sólo 10 pacientes no tenían síntomas neuromusculares en el diagnóstico. En un 8,6%, las caídas ocasionaron complicaciones graves y hasta un 9,5% perdió la deambulación autónoma. Se implantó un dispositivo cardíaco en 16 pacientes y no se registró ninguna muerte súbita de origen cardíaco. Se identificó una tasa de incidencia de enfermedad tromboembólica venosa de 5,6 casos/1.000 pacientes-año. Un 54% de los pacientes desarrolló insuficiencia respiratoria. Durante el seguimiento fallecieron 13 pacientes y la insuficiencia respiratoria fue la principal causa de muerte (38,5%). Conclusiones: El manejo clínico y el seguimiento de los pacientes con DM1 debe ser multidisciplinar. En nuestra serie, la principal causa de morbimortalidad fueron los trastornos respiratorios, mientras que la incidencia de complicaciones cardiológicas graves fue baja. Destacan, además, las complicaciones derivadas de las caídas, que pueden tener consecuencias graves. Finalmente, se identificó una incidencia mayor de la esperada de eventos tromboembólicos, que merece ser estudiada en mayor profundidad.(AU)

Introduction: Myotonic dystrophy type 1 is the most common muscular dystrophy in adults. It is a genetic disorder of autosomal dominant inheritance and one of its most striking features is its multi-systemic involvement with a wide clinical phenotype. Patients and methods: Data from 107 patients with a genetically confirmed diagnosis of the disease were retrospectively analysed from the database of a national reference division for neuromuscular diseases. Demographic and clinical data were collected over a 7-year period. Results: The most frequent age of symptom onset was adulthood (66.4%). 35% showed exclusive distal weakness and a majority (63.6%) had clinical myotonia. Only 10 patients lacked neuromuscular symptoms at diagnosis and up to 9.5% were restricted to a wheelchair. The implantation of a pacemaker or cardioverter-defibrillator was conducted in 16 patients but no sudden cardiac death was detected. A venous thromboembolic disease incidence rate of 5.6 cases per 1000 patient-year was identified. More than half of the patients (54%) in the series developed respiratory failure. 13 patients died during the follow-up period, with respiratory failure being the main cause of death. Conclusions: The follow-up and clinical management of patients with DM1 should be multidisciplinary. In our series, the main cause of morbidity and mortality was respiratory disorders, whereas the incidence of cardiac disorders was lower. In addition, there is a notable frequency of complications derived from falls, which can have serious consequences. Finally, a higher than expected incidence of thromboembolic events was identified, which deserves further study in other cohorts of patients.(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)

[Adult myotonic dystrophy type 1: an update]. / Actualización en distrofia miotónica tipo 1 del adulto.

Myotonic dystrophy type 1 (DM1) or Steinert's disease (CIE-9-C: 359.21; CIE-10-ES: G71.11, ORPHA: 273) is a rare autosomal dominant inherited myopathy with almost complete penetrance and multisystemic consequences (neurological, cardiological, respiratory, endocrinological, and gastrointestinal). It is one of the clinical most variable diseases. The most bothersome symptoms for the patients (mobility problems, fatigue, hypersomnia, or gastrointestinal symptoms) and their families (apathy, lack of initiative) are not necessarily the most dangerous. Respiratory problems and cardiac arrhythmias shorten life expectancy. There is no specific treatment. The role of the Primary Care physician is crucial in the follow-up of DM1, either by coordinating the different professionals or detecting treatable complications. This work addresses the latter.

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.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

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.

Anesthetic management of a child with congenital Steiner syndrome scheduled for laparoscopic bilateral orchidopexy. / Manejo anestésico en un niño con síndrome de Steinert congénito programado para orquidopexia bilateral por laparoscopia.

Congenital Steinert syndrome is a severe form of myotonic dystrophy, characterized by general hypotonia, facial diplegia, respiratory difficulty and sucking and swallowing problems presented since birth. This syndrome has an estimated incidence of 1 per 10.000 births. Mortality is close to 50% during the neonatal period. It represents a challenge for the anesthesiologist due to the great variety of intraoperative and postoperative adverse events, given by both the evolution of the disease and the susceptibility to the vast majority of the anesthetic agents. A report of a 3-year-old boy with congenital myotonic dystrophy is presented, scheduled for laparoscopic bilateral orchidopexy, performed under general anesthesia without muscular relaxation, combined with ecoguide bilateral TAP block.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

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.

Importance of three-dimensional speckle tracking in the assessment of left atrial and ventricular dysfunction in patients with myotonic dystrophy type 1.

INTRODUCTION AND AIM: Myotonic dystrophy type 1 (DM1) is a multisystem disease in which cardiac involvement is common. The aim of this study was to identify early changes in left atrial (LA) mechanics and left ventricular (LV) systolic function in patients with myotonic dystrophy type 1 using three-dimensional (3D) speckle tracking echocardiography (3D-STE). METHODS: This observational study included 25 patients with DM1 and 25 healthy volunteers. We assessed LA and LV global strain parameters using 3D-STE. RESULTS: Patients with DM1 showed significantly lower longitudinal LA strain (22.85%±5.06 vs. 26.82%±5.15; p=0.008 in univariate analysis and p=0.026 in multivariate analysis) and global LV longitudinal strain (-13.55%±1.82 vs. -16.11%±1.33; p<0.001 in univariate analysis and p<0.001 in multivariate analysis), which was not observed with LA area tracking (p=0.412) or LV global circumferential strain (p=0.879), global radial strain (p=0.058), area tracking (p=0.092) or twist (p=0.992). CONCLUSION: LA and LV global longitudinal strain is significantly decreased in patients with DM1, which may be an early marker of subclinical dysfunction in these patients.