Symptomatic carriers of muscular dystrophy.
Data of twelve females who were symptomatic carriers of Duchenne muscular dystrophy is being reported here. Age at the time of presentation varied from one year to 17 years. All patients presented with progressive motor disability or delayed development. Six patients were bed ridden and 8 had history of similar disorder in male siblings. Majority of them had serum creatine kinase levels more than ten times the upper normal limit. Muscle biopsy was consistent with the diagnosis of muscular dystrophy in 4 patients and 1 patient had normal result. Overall prognosis was invariably poor.
Azam
M
M
Department of Paediatrics, Children Hospital, Pakistan Institute of Medical Sciences, Islamabad.
D000293:Adolescent; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics*; D011379:Prognosis
D003402:Creatine Kinase