Article
Genetic Counseling for Adult-Onset Spinal and Bulbar Muscular Atrophy (Kennedy Syndrome): Multiple Cases of Prenatal Testing in a Family.
Advances in experimental medicine and biology - 1 Jan 2020
Yapijakis Christos, Laskaratos Achilleas, Angelopoulou Antonia, Voumvourakis Costas
Abstract excerpt
X-linked spinal and bulbar muscular atrophy (SBMA), also known as Kennedy syndrome, is an adult-onset neurodegenerative disorder characterized by slowly progressive muscle atrophy and other severe symptoms gradually leading to reduced mobility and ultimately to death due to respiratory failure. Two decades ago we reported the first prenatal diagnosis of SBMA worldwide. Here we present a Greek family in which we...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
