TY - JOUR
T1 - Diagnosis and treatment with steroids for patients with Duchenne muscular dystrophy
T2 - Experience and recommendations for Mexico
AU - Vázquez-Cárdenas, Norma A.
AU - Ibarra-Hernández, Francisco
AU - López-Hernández, Luz B.
AU - Escobar-Cedillo, Rosa E.
AU - Ruano-Calderón, Luis A.
AU - Gómez-Díaz, Benjamín
AU - García-Calderón, Noemí
AU - Carriedo-Dávila, M. Fernanda
AU - Rojas-Hurtado, Liliana G.
AU - Luna-Padrón, Emilia
AU - Coral-Vázquez, Ramón M.
PY - 2013
Y1 - 2013
N2 - Duchenne muscular dystrophy is a severe, debilitating and progressive disease that affects 1 in 3,500 live male births in the world. The diagnosis should be confirmed by genetic testing to identify the mutation in the DMD gene or muscle biopsy and immunostaining to demonstrate the absence of dystrophin. Although up to now continues to be an incurable disease, this does not mean it has no treatment. Treatment should be multidisciplinary, looking for the functionality of the patient and avoiding or correcting complications, mainly cardio-respiratory and skeletal. Many proposals have been evaluated and implemented with the aim of improving the quality of life for these patients. The longterm steroids have shown significant benefits, such as prolonging ambulation, reduce the need for spinal surgery, improve cardiorespiratory function and increase survival and the quality of life. This document presents the recommendations based on the experience of the working group and experts worldwide on the diagnosis and treatment with steroids for patients with Duchenne muscular dystrophy.
AB - Duchenne muscular dystrophy is a severe, debilitating and progressive disease that affects 1 in 3,500 live male births in the world. The diagnosis should be confirmed by genetic testing to identify the mutation in the DMD gene or muscle biopsy and immunostaining to demonstrate the absence of dystrophin. Although up to now continues to be an incurable disease, this does not mean it has no treatment. Treatment should be multidisciplinary, looking for the functionality of the patient and avoiding or correcting complications, mainly cardio-respiratory and skeletal. Many proposals have been evaluated and implemented with the aim of improving the quality of life for these patients. The longterm steroids have shown significant benefits, such as prolonging ambulation, reduce the need for spinal surgery, improve cardiorespiratory function and increase survival and the quality of life. This document presents the recommendations based on the experience of the working group and experts worldwide on the diagnosis and treatment with steroids for patients with Duchenne muscular dystrophy.
KW - DMD gene
KW - Deflazacort
KW - Duchenne's muscular dystrophy
KW - Dystrophin
KW - Prednisone
KW - Steroids
UR - http://www.scopus.com/inward/record.url?scp=84887834455&partnerID=8YFLogxK
U2 - 10.33588/rn.5710.2013380
DO - 10.33588/rn.5710.2013380
M3 - Artículo
C2 - 24203668
AN - SCOPUS:84887834455
SN - 0210-0010
VL - 57
SP - 455
EP - 462
JO - Revista de Neurologia
JF - Revista de Neurologia
IS - 10
ER -