Childhood-onset hereditary spastic paraplegia and its treatable mimics.

Abstract excerpt

Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common "mimics" of cerebral palsy. Early detection of these heterogenous genetic disorders can inform genetic counseling, anticipatory guidance, and improve outcomes, particularly where specific treatments exist. The diagnosis relies on clinical pattern recognition, biochemical...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to High-Throughput Nucleotide Sequencing
• Share to Metabolism, Inborn Errors