He had sprained that ankle several times over the years. Her doctors blamed weak ligaments and a sports-heavy schedule. They were an active family and believed that injuries were a part of the game. But this was different. It seemed that his ankle never recovered after the last injury. Over the next few months, she saw a few orthopedists at the Hospital for Special Surgery. One asked for an MRI of the ankle. That study was its own kind of nightmare. The girl told him that it was hurting to keep her leg in the right position. And keeping it stable was practically impossible. His foot had developed a tendency to roll to one side so that the arch and sole were facing inward rather than downward. And his toes were in constant motion.
The MRI was unremarkable. Physical therapy helped with the stiffness but did not straighten her leg. A cortisone shot did nothing. Even with the ankle brace. The parents asked among themselves how all this could grow out of a sprain. A rheumatologist was certain it was juvenile rheumatoid arthritis. Blood tests said otherwise. As soon as spring came, the young girl started using crutches to move around. Any lifting was excruciating.
Finally one evening, out of a sense of desperation, the father reached out to a high school friend, Joshua Hyman, now a pediatric orthopedic surgeon at New York-Presbyterian Morgan Stanley Children’s Hospital. He described his daughter’s pain and the strange stiffness that seemed to keep her leg on her side. There was a thoughtful silence on the phone, and then Hyman asked his friend if he’d been able to move his daughter’s leg—be able to put it in a more normal position? He could, replied the father, but it felt as if the legs were fighting him. And as the pressure subsided, it would slowly turn on its side. That’s the way it felt best, his daughter told him.
There was another pause. “Has anyone mentioned something called dystonia to you?” Hyman asked.
a wrong message?
Dystonia is a movement disorder characterized by persistent or intermittent muscle contractions that cause abnormal, often repetitive movements or positions, Hyman explained. It can affect any part of the body and in some cases the whole body. It is a problem of mind and nerves. They send wrong messages to the muscles. There are lots of possible causes, Hyman said: drugs, infections, brain injuries, to some extent inherited diseases. dystonia? The father asked. He wasn’t sure he’d ever heard the word. How did he get it? Why did he get it? Is there a cure? Hyman was sympathetic but could not answer his friend’s many questions. For that they needed a neurologist—probably one specializing in movement disorders.
It was late spring when the family visited Dr. Steven Frucht, director of the Fresco Institute for Parkinson’s and Movement Disorders at NYU Langone Health. As he entered the examination room, Frucht noticed that the girl’s legs were asymmetrical. She was sitting on a chair that was so high that her legs could not reach the floor, so they dangled comfortably. As expected, the right leg was straight. The left points inwards, the right at a very unnatural angle. Frucht introduced himself and the girl and her parents explained the months of her ankle pain.