Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. Its onset is also variable and extends from the neonatal period to adulthood.
They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). There are no data on its prevalence in Latin America. Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. Palabras clave: Resonancia magnética, músculo, cuerpo completo, dixon, fracción grasa, miopatía congenita, Keywords: Magnetic resonance imaginin, muscle, whole body, dixon, fat fraction, congenital myopathy Dixon technique has been helpful to obtain objective measurement of fatty replacement in different muscle groups, suitable for standard report, contributing in the follow-up to the disease. Additional techniques have been added to anatomical description of fatty replacement and semi-quantitative scales currently in use to obtaining quantitative information of muscle degeneration. The applications of RMM in pediatric population and their own patterns of neuromuscular diseases have been less described in comparison with adults’ reports, which constitutes an important challenge facing the need for early diagnosis. Specific patterns of muscle atrophy collaborate in the identification of conditions included in a heterogeneous spectrum of diseases where the overlap of clinical presentations is frequent. ABSTRACT: Magnetic resonance imaging of muscle (RMM) has been incorporated into the study of patients with suspected congenital myopathy, as a complement to the genetic study and histopathological examination. La técnica de Dixon permite adicionalmente obtener información objetiva sobre el reemplazo graso de los diferentes grupos musculares y reportarla de manera estandarizarla, pudiendo así contribuir en el seguimiento de la enfermedad. A la descripción anatómica del compromiso muscular y a las escalas semi-cuantitativas actualmente en uso se suma la posibilidad de obtener información cuantitativa de la degeneración grasa muscular. Las aplicaciones de la RMM en la población infantil y sus patrones en enfermedades neuromusculares han sido menos descritas en comparación con los adultos, hecho que constituye un importante desafío frente a la necesidad de diagnóstico precoz.
Patrones específicos de afectación de algunos músculos colaboran en la identificación de afecciones que forman parte de un espectro heterogéneo de enfermedades donde la superposición de las presentaciones clínicas es frecuente. RESUMEN: La resonancia magnética muscular (RMM) se ha incorporado al estudio de pacientes con sospecha de miopatía congénita, como complemento al estudio genético e histopatológico.
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