Short developmental milestone risk assessment tool to identify Duchenne muscular dystrophy in primary care
- Published on 07/26/2024
- Reading time: 5 min.
van Dommelen Paula 1, van Dijk Oisín 2, de Wilde Jeroen A. 2, Verkerk Paul H. 1
1 https://ror.org/01bnjb948 Department of Child Health The Netherlands Organization for Applied Scientific Research TNO Leiden The Netherlands
2 https://ror.org/05xvt9f17 Department of Public Health and Primary Care Leiden University Medical Center Leiden The Netherlands
Abstract
Background In patients without a family history, Duchenne muscular dystrophy (DMD) is typically diagnosed at around 4–5 years of age. It is important to diagnose DMD during infancy or toddler stage in order to have timely access to treatment, opportunities for reproductive options, prevention of potential fatal reactions to inhaled anesthetics, awareness of a child’s abilities needed for good parenting, and opportunities for enrolment in clinical trials.
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