In 10% to 15% of cases, there is no clear cause of CP. There is increasing recognition that genetics plays a part, but no standardized approach to genetic testing in patients with CP exists. In this study we asked the question whether both people with and without known risk factors for CP should have genetic testing.
In cerebral palsy (CP) muscles are often shortened so much that they restrict joint range of motion and the muscles themselves are weak. Thus, ‘shortness’ and ‘weakness’ are two important needs that clinicians must address.
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Cohort-based whole exome and whole genome sequencing and copy number variant (CNV) studies have identified genetic etiologies for a sizable proportion of patients with cerebral palsy (CP). These findings indicate that genetic mutations collectively comprise an important cause of CP.
"In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and observed enrichment of damaging de novo mutations in cerebral palsy cases."