RESUMO
Antecedentes y objetivos: La enfermedad de Steinert o distrofia miotónica tipo 1 (DM1), (OMIM 160900) es la miopatía más prevalente en el adulto. Es una enfermedad multisistémica con alteración de prácticamente todos los órganos y tejidos y una variabilidad fenotípica muy amplia, lo que implica que deba ser atendida por diferentes especialistas que dominen las alteraciones más importantes. En los últimos años se ha avanzado de manera exponencial en el conocimiento de la enfermedad y en su manejo. El objetivo de la guía es establecer recomendaciones para el diagnóstico, el pronóstico, el seguimiento y el tratamiento de las diferentes alteraciones de la DM1. Material y métodos: Esta guía de consenso se ha realizado de manera multidisciplinar. Se ha contado con neurólogos, neumólogos, cardiólogos, endocrinólogos, neuropediatras y genetistas que han realizado una revisión sistemática de la literatura. Recomendaciones: Se recomienda realizar un diagnóstico genético con cuantificación precisa de tripletes CTG. Los pacientes con DM1 deben seguir control cardiológico y neumológico de por vida. Antes de cualquier cirugía con anestesia general debe realizarse una evaluación respiratoria. Debe monitorizarse la presencia de síntomas de disfagia periódicamente. Debe ofrecerse consejo genético a los pacientes con DM1 y a sus familiares. Conclusión: La DM1 es una enfermedad multisistémica que requiere un seguimiento en unidades especializadas multidisciplinares
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
Assuntos
Humanos , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/fisiopatologia , Prognóstico , Seguimentos , Distrofia Miotônica/genética , Neurofisiologia , Planejamento Familiar , Diagnóstico Pré-Natal , Miotonia , NeuroimagemRESUMO
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.
Assuntos
Distrofia Miotônica/diagnóstico , Seguimentos , Humanos , Distrofia Miotônica/complicações , Guias de Prática Clínica como AssuntoRESUMO
No disponible
Assuntos
Humanos , Distrofia Miotônica/diagnóstico , Doenças Raras/diagnóstico , Diagnóstico Diferencial , Serviços Médicos de Emergência/estatística & dados numéricos , Tratamento de Emergência/métodosRESUMO
La complejidad y variabilidad de las manifestaciones de la distrofia miotónica tipo 1 o enfermedad de Steinert plantean dificultades para el seguimiento clínico, descrito como fragmentario, inadecuado o incluso deficiente. Las características más discapacitantes son con frecuencia manifestaciones como la somnolencia diurna excesiva, el cansancio, las digestivas y del comportamiento cogntivo, pero sin embargo son los problemas cardíacos, respiratorios o de la deglución los que reducen la esperanza de vida (AU)
The complexity and variability of the manifestations of myotonic dystrophy tipe 1, or Steinert disease, pose difficulties for clinical follow-up. This is described as fragmentary, inadequate or even poor. The most disabling features are often manifestations such as excessive daytime sleepiness, fatigue, and digestive and cognitive behavior disorders. But yet it is heart, breathing or swallowing problems that reduce life expectancy (AU)
