Congenital myopathies.
A retrospective review of 55 children with the clinical (pre-biopsy) suspicion of a congenital or metabolic myopathy was undertaken. After investigations, 45% remained unclassified. The only statistically significant differences between this unclassified group and the others were that males with a history of progressive disease were more likely to have a definable myopathy, while 'neuropathic' features were more common in the unclassified group.
Shield
L K
LK
Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia.
D001706:Biopsy; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000473:pathology; D009223:Myotonic Dystrophy / Q000151:congenital; D009468:Neuromuscular Diseases / Q000145:classification / Q000151:congenital* / Q000473:pathology; D012189:Retrospective Studies