title: [Duchenne muscular dystrophy: Case of atypical presentation and early diagnosis].
abstract: BACKGROUND
  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 3/100000 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.
  
  
  METHODS
  An 18-month male infant in ambulatory study for failure to thrive and malnutrition was admitted in our hospital for respiratory problems. Hypertransaminasemia without other data of hepatic involvement in addition to hypotonia detected in the examination oriented diagnosis towards myopathy, confirmed by elevated creatine kinase and electromyogram. The genetic study for Duchenne muscular dystrophy was negative. Mutations were not detected. Muscle biopsy showed complete absence of dystrophin. A more sensitive genetic study showed a previously undescribed mutation.
authors.affiliation: Unidad de Neurociencias, Hospital Clínico Universitario Virgen de la Victoria.
authors.forename: Pablo
authors.initials: P
authors.lastname: Cabezudo García
authors.affiliation: Hospital Materno Infantil, Málaga, España.
authors.forename: Esther
authors.initials: E
authors.lastname: Moreno Medinilla
authors.affiliation: Hospital Materno Infantil, Málaga, España.
authors.forename: Rocío
authors.initials: R
authors.lastname: Calvo Medina
authors.affiliation: Hospital Materno Infantil, Málaga, España.
authors.forename: María Dolores
authors.initials: MD
authors.lastname: Mora Ramírez
authors.affiliation: Hospital Materno Infantil, Málaga, España.
authors.forename: Jacinto
authors.initials: J
authors.lastname: Martínez Antón
mesh_terms: D042241:Early Diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis*; D009154:Mutation