Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
Summary
The purpose of this overview is to increase the awareness of clinicians regarding genetic causes of nuclear gene-encoded Leigh syndrome spectrum (LSS), management, especially treatable disorders, and relevant genetic counseling issues.
The following are the goals of this overview.
Goal 1.
Describe the clinical characteristics of nuclear gene-encoded LSS.
Goal 2.
Review the genetic causes of nuclear gene-encoded LSS.
Goal 3.
Provide an evaluation strategy to identify the genetic cause of nuclear gene-encoded LSS in a proband (when possible).
Goal 4.
Review management of nuclear gene-encoded LSS, especially treatable disorders.
Goal 5.
Inform genetic counseling of family members of an individual with nuclear gene-encoded LSS.