Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal
نویسندگان
چکیده
منابع مشابه
Newborn screening for Duchenne muscular dystrophy.
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...
متن کاملNewborn screening for Duchenne muscular dystrophy: a psychosocial study.
OBJECTIVE To evaluate the psychosocial implications of newborn screening for Duchenne muscular dystrophy. DESIGN Prospective psychosocial assessment. SETTING Primary care. RESPONDENTS STUDY (a) families of an affected boy identified by screening (n = 20); (b) families of a boy with a transient screening abnormality (n = 18). CONTROL (a) families of a boy with a later clinical diagnos...
متن کاملA Roadmap to Newborn Screening for Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately loss of ambulation and respiratory insufficiency. Glucocorticoids are the only pharmacological agents known to alter the natural progression of th...
متن کاملScreening the newborn for Duchenne muscular dystrophy: parents' views.
A short report is provided of an interview survey of 69 parents of boys suffering from Duchenne muscular dystrophy to determine their views of neonatal screening and their experiences at the time of diagnosis. Most of the parents favored screening in the neonatal period or in early infancy, and most of them expressed dissatisfaction with present delays, methods of disclosure, and subsequent su...
متن کاملEvidence-based path to newborn screening for Duchenne muscular dystrophy.
OBJECTIVE Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK with follow-up DMD gene testing. METHODS A fluorometric assay based upon the...
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ژورنال
عنوان ژورنال: Muscle & Nerve
سال: 2016
ISSN: 0148-639X
DOI: 10.1002/mus.25185