[Congenital muscular dystrophy. Apropos of 4 cases].
Four cases of congenital muscular dystrophy are reported. Muscular weakness and hypotonia, with different clinical severity, was present from birth in three patients; in the fourth one, it began at two months old. Three cases had joint contractures. One patient died by respiratory infection. Serum CK level was very high in all of them. Muscle biopsies showed pathologic changes consistent with muscular dystrophy with endomysial and perimysial fibrosis and fatty infiltration. Authors analysed this illness emphasizing clinical and biochemical (CK) data so that an early diagnosis can be suspected.
Posada
I J
IJ
Servicio de Neurolog'ia, Hospital l de Octubre, Madrid.
Molina
J A
JA
Ramo
C
C
Cabello
A
A
Mateos
F
F
D001706:Biopsy; D002675:Child, Preschool; D003402:Creatine Kinase / Q000032:analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000201:enzymology / Q000473:pathology
D003402:Creatine Kinase
Distrofia muscular congénita. A propósito de cuatro casos.