Open AccessDistrofia muscular de Duchenne. Presentación atípica y diagnóstico precoz
Author(s) -
Pablo CabezudoGarcía,
E. Moreno Medinilla,
Rocío Calvo Medina,
María Dolores Mora Ramírez,
J. Martínez Antón
Publication year - 2015
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2015.e149
Subject(s) - medicine , pediatrics , duchenne muscular dystrophy , muscular dystrophy , muscle biopsy , failure to thrive , myopathy , hypotonia , creatine kinase , population , incidence (geometry) , autosomal recessive inheritance , malnutrition , biopsy , genetics , physics , environmental health , biology , optics , gene
Duchenne muscular dystrophy is the most common form of muscular dystrophy, with an incidence of 1/3300 male live births and a prevalence rate in the total population of 3/1 individuals. It is often hereditary (X-linked recessive) but sporadic cases are also frequent. The average age at diagnosis is 4.83 years but an early diagnosis is possible.