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For Severe Charcot-Marie-Tooth Disease, a Neurological Disorder, Surgery Can Change Lives

Once sidelined, brother and sister from Northern California are living busy lives on their feet after reconstructive foot surgery at Cedars-Sinai Medical Center

For patients suffering from Charcot-Marie-Tooth disease – a surprisingly common neurological disorder that can cause the feet to become weak and contorted – surgery is considered a last resort. But for patients like Elissa Williams and her brother Kyle, surgery can bring an end to crippling pain and lead to active lives with feet facing forward and balanced on the ground.

The Northern California siblings’ feet were reconstructed by Glenn B. Pfeffer, MD, director of the Foot and Ankle Program at Cedars-Sinai Medical Center’s Orthopaedic Center and one of the leaders of the Charcot-Marie-Tooth/Hereditary Neuropathy Center at Cedars-Sinai.

“Many patients have such mild symptoms that little if any treatment is needed. But those with more severe problems can be helped with specialized braces, focused physical therapy or reconstructive surgery. In less than two hours, an unbalanced, deformed foot can be transformed into one that is functional,” said Pfeffer, co-director of the Cedars-Sinai/USC Glorya Kaufman Dance Medicine Center. He heads the multidisciplinary Charcot-Marie-Tooth Center with Richard A. Lewis, MD, director of the Electromyography Laboratory and co-director of the Neuromuscular Clinic in the Department of Neurology, and Robert H. Baloh, MD, PhD, director of Neuromuscular Medicine in the Department of Neurology.

The first noticeable signs of Elissa Williams’ CMT came when she was 8, playing basketball in third grade.

“When I ran, my feet would turn in and I would run with a high knee kick, so it was kind of like a propeller – my feet had a circular motion toward each other. An orthopedic surgeon sent me to a neurologist and a test came back positive for CMT,” said Elissa, who lives in McKinleyville and has three brothers, two with CMT. “I was the first one in my family to be diagnosed because I showed signs a lot earlier than my brothers. They got it more when they hit their growth spurts. Mine was pretty significant at a young age.”

Elissa and her family found Pfeffer when he was working in San Francisco, but not before an inexperienced surgeon made a bad situation worse, performing operations that failed to correct the problems and prescribing a type of braces that tend to exacerbate CMT symptoms.

“I had tons more pain and it was getting worse. By the time I was in junior high, my feet were so crooked they would no longer fit in those plastic braces. The toes and the heels were starting to turn toward each other. But I have a high pain tolerance and maybe I’m stubborn, so I continued to play sports,” said Elissa, who played competitively until she was 16 and her kneecaps started to repeatedly dislocate. Pfeffer reconstructed her right foot before joining Cedars-Sinai in late 2005. He rebuilt her left one in 2007.

“Because of these surgeries, I have a new life,” said Elissa, 26, whose experience led her to become an athletic trainer, working with others who need physical therapy and rehabilitation. “I’m on my feet all day. … I don’t have pain anymore, and my feet are straight.”

Kyle Williams, 24, also ignored pain to stay athletic in high school. His breaking point came during his freshman year in college, when he worked in a large warehouse store. “Standing on those concrete slabs, I’d be in so much pain at the end of the day, I couldn’t even really push the gas pedal. I’d just be in tears on the way home,” said Kyle, an estimator for a Petaluma construction firm.

Glen Pfeffer, MD Pfeffer, who reconstructed Kyle’s feet in 2006, said his feet were among the most misshapen he has seen: “He had severe deformities in his toes and arches, and was essentially walking on only the sides of his feet. Although we were able to help him considerably, I wish we could have gotten to him sooner, when the feet were more mobile. The earlier in adolescence we can intervene, the better.”

Kyle, who usually works in an office but sometimes goes to job sites, said stiffness in his foot and ankle makes walking up a steep incline challenging.

“The biggest limitation for me is mobility. My right foot has very limited mobility,” he said. “For anyone else who might need surgery, I would urge them to be crazy adamant about their physical therapy. They have to be dedicated to doing that and trying to keep all the mobility they can.”

At least 45 genetic defects have been identified as causes of Charcot-Marie-Tooth disease, named for the three doctors who first identified it. Symptoms, severity and time of onset vary greatly, depending on the genes involved. High arches in the feet and increasing awkwardness are common first clues, and although the disorder often is considered rare, it is relatively common, affecting one in every 2,500 people.

Lewis said some CMT patients need braces at some point during their lives, but most will remain ambulatory and on their feet, living full, functional lives. “Because many people have misguided beliefs about CMT, a big part of our center’s focus is to allay fears by providing a reality-based concept of what CMT is and does,” he said. “We offer testing that can provide a specific genetic diagnosis to give patients an understanding of their family history and risks, and research is a major and growing component of our program.”

Baloh’s Neurodegenerative Diseases Laboratory recently received a $3 million grant from the California Institute for Regenerative Medicine to study the disease using induced pluripotent stem cells (iPSCs) created at Cedars-Sinai’s Regenerative Medicine Institute. These cells enable researchers to study a disease by reproducing it in a Petri dish. Their goal is to determine if one day doctors will be able to treat CMT by taking a patient’s skin cells, fixing their personal genetic defect and transplanting the cells back into the patient’s nerves.