Uniparental Disomy Leading to a Rare Juvenile Form of ALS.

Abstract

2. Case Presentation Our patient is a 27 year old woman of Nicaraguan descent, who presented to to an orthopedist for toe walking at age 5. She was born to a 31 year old G2P2 mother via vaginal delivery after a full term, uncomplicated gestation. She met all early milestones for motor, language, cognitive, and social development until she started to show symptoms at the age of 4. Over the years, she developed progressive symptoms of muscle weakness with significant atrophy involving her distal arms and legs with development of bilateral pes cavus deformities, foot drop and significant intrinsic hand weakness.