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A 10-Year-Old Girl with Progressive Generalized Weakness

Case Presentation Dr. Harvey Sarnat: A.Y. was a 10-year-old Mexican girl who presented with a 7-year history of progressive weakness. She was the full-term product of an uncomplicated pregnancy and delivery, weighing 2850 grams at birth. Early developmental milestones were achieved at the expected rate until age three, when frequent falling was noted. Progressive weakness of her legs ensued, and at age nine years, A.Y. lost the ability to walk beyond a few steps, and shortly thereafter she could not stand without support. She had no seizures, visual disturbance, dysphagia, or incontinence. Previously an excellent student, her academic performance in school had deteriorated over the past year. She was not on any medications. Family history was negative for any known neurological or neuromuscular diseases. A.Y. was an only child. Both parents were alive and well; there was no history of consanguinity.