PubMed · 1975 · 108 citations · 0 references
MedicineMolecular GeneticsPediatricsEarly DetectionNeonatologyPediatric GeneticsGenetic DisordersInherited Disease TestingMolecular ScreeningMuscular DystrophyNewborn Genetic ScreeningEarly DiagnosisLaboratory EvidenceLaboratory TestingMuscle Enzyme TestingNewborn ScreeningNewborn Screening ExaminationNewborn Screening For Genetic DisordersSerum Creatine Kinase Assessment
Duchenne muscular dystrophy affects roughly 1 in 3,000–4,000 newborn boys, and while creatine phosphokinase (CPK) is elevated in all newborns, it remains persistently high in DMD infants, making early detection possible and beneficial for initiating supportive care and identifying carriers. The authors propose adopting a new dried‑blood‑spot CPK assay as a screening test for male newborns. The assay reliably quantifies CPK from a single drop of dried blood, meeting the analytical requirements for newborn screening. The method satisfies all criteria for a suitable newborn screening test.
Duchenne muscular dystrophy (DMD) occurs in about 1 of 3,000 to 4,000 boys. Laboratory evidence of the disease, notably elevated creatinephosphokinase (CPK), is present already in the newborn infant. Unspecific CPK elevation occurs in the newborn as well, yet disappears shortly thereafter, while in DMD patients the CPK remains high throughout infancy. A new method to reliably determine CPK in a drop of dried blood is described. The method fulfills the criteria given for a suitable screening method in the newborn infant. Although DMD is an incurable disease, early diagnosis has benefits. The latter include early beginning of supportive treatment and particularly recognition of heterozygous carriers of the mutant gene before other affected children are born in a stricken family. It is proposed to adopt the method as a new screening procedure for male newborn infants.