[Early clinical and histopathological manifestations in 14 boys showing elevated serum creatine-phosphokinase levels in their first year]. / Manifestations musculaires précoces, cliniques et histopathologiques, chez 14 garcons présentant dans la prèmiere année une activité sérique élévee de créatine-phosphokinase.
J Genet Hum
; 29(1): 71-84, 1981 Mar.
Article
en Fr
| MEDLINE
| ID: mdl-7334343
ABSTRACT
The detection of Duchenne muscular dystrophy in the neonate by a determination of the serous activity of CPK allowed the authors to study the muscular, clinical and histopathological features among 14 boys born from 1976 to 1979, showing a raise in the enzymatic activity, confirmed during the first 6 months. 11 boys showed a Duchenne muscular dystrophy, and 3 likely a Becker muscular dystrophy. The authors point out the interest of early findings of hyaline degeneration of the fibers and indicate the variations, from one case to another, of the histopathological evolution in the pre-symptomatic stage. A well examined muscular biopsy is usually conclusive without using an electron microscope, from the age of one year, if serous activity of CPK reaches twenty times the normal rate. If not, waiting for the age of 2 would be advisable, since the initial lesions of the Becker D.M. are not yet clearly defined. When no systematic detection and no familial context, a dosage of the CPK serous activity should be made in the last during the third year, on every boy revealing an unexplained motor retardation. In that purpose, a definition and an application of a motor development score are proposed.
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Bases de datos:
MEDLINE
Asunto principal:
Creatina Quinasa
/
Enfermedades del Recién Nacido
/
Distrofias Musculares
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
Fr
Revista:
J Genet Hum
Año:
1981
Tipo del documento:
Article