{"id":82169,"date":"2018-04-26T04:48:36","date_gmt":"2018-04-26T08:48:36","guid":{"rendered":"https:\/\/www.ucf.edu\/news\/?p=82169"},"modified":"2022-03-03T16:27:36","modified_gmt":"2022-03-03T21:27:36","slug":"common-neurological-disorder-youve-never-heard","status":"publish","type":"post","link":"https:\/\/www.ucf.edu\/news\/common-neurological-disorder-youve-never-heard\/","title":{"rendered":"The Most Common Neurological Disorder You\u2019ve Never Heard Of"},"content":{"rendered":"

Ed Linde always wore long pants as a young man to hide his skinny legs and cover the metal braces he had to wear, because of his condition.<\/p>\n

Linde, a Tampa resident, is hopeful that a discovery made by a UCF medical researcher may provide hope to people like him and his son.<\/p><\/blockquote>\n

Linde suffers from Charcot-Marie-Tooth, a debilitating neurological disease that takes away a person\u2019s mobility. Most people have never heard of it, but it affects one in 2,500 Americans, according to the National Institutes of Health. Linde\u2019s mother, uncle, sister and niece have it. Most recently his 28-year-old son was diagnosed with it and has quickly seen his physical abilities deteriorate. There is no cure, it\u2019s often misdiagnosed and doctors have no standard treatment for it.<\/p>\n

\u201cIt\u2019s one thing for me to have it, and I\u2019ve accepted it,\u201d Linde says. \u201cBut to pass it on and watch your child with the struggles and difficulties that come with it \u2014 it\u2019s hard. It\u2019s very easy to get depressed at a young age when you can\u2019t do what you want to do. People my son\u2019s age need to see that I don\u2019t let the disease hold me back.\u201d<\/p>\n

Linde, a Tampa resident, is hopeful that a discovery made by a UCF medical researcher may provide hope to people like him, like his son.<\/p>\n

A Breakthrough Discovery<\/h2>\n

Associate Professor of Biomedical Sciences<\/a> Stephen King recently discovered that a deformity in the way motor neurons connect with muscles during a person\u2019s first years of life may be connected to the peripheral nerve damage CMT patients eventually suffer. That nerve damage causes muscles to atrophy and normal movement to become difficult. CMT nerve damage is usually in the arms and legs, resulting in small, weakened muscles. Many patients have deformed feet, with high arches and hammertoes, which make walking difficult. Eventually, patients lose all their mobility.<\/p>\n

King\u2019s work is supported by a grant from the National Institutes of Health and his most recent findings were published earlier this year in the Scientific Reports <\/em>journal.<\/p><\/blockquote>\n

\u201cI think this may give us a better handle on understanding how the disease starts, and what may cause the ultimate degeneration later,\u201d King says.<\/p>\n

Linde\u2019s symptoms began at age 5. He underwent physical therapy and wore splints at night. At 8, doctors fused the three joints of his ankle, leaving it difficult for him to walk. At 30, he received his first pair of leg braces. Later, he started walking with a cane, and now, at 60, he uses a wheelchair.<\/p>\n

King said a genetic mutation in a cell protein called dynein is associated with CMT symptoms. Dynein normally helps move structures within cells, and it\u2019s not yet clear what causes the gene to mutate. But that mutation causes malformations in the juncture between neurons and muscles. King was able to re-create the genetic mutation in his lab to see how CMT develops and causes worsening movement problems over time.<\/p>\n