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Science News - Natural History of Charcot-Marie-Tooth Disease During Childhood: Natural History of Pediatric CMT

Submitted by John C. Kincaid, MD, News Science Editorial Board
Edited by Nandita S. Keole, MD, News Science Editorial Board
Cornett K, Menezes M, Shy R, et al. (2017). Natural History of Charcot-Marie-Tooth Disease During Childhood: Natural History of Pediatric CMT. Annals of Neurology. 82. 10.1002/ana.25009.
2017; 82;353-359
This study evaluated a group of 200 pediatric patients (ages 3- 20 years) with genetically classified types of Charcot-Marie-Tooth (CMT) disease assessed serially over a 2-year period using the CMT Pediatric Scale (CMT PedS). This is a validated Rasch-built disability scale which evaluates gross and fine motor function, strength, sensation, and balance. The 4 most common genetic types were 58% CMT1A, 5% CMT1B, 4% CMT2A, and 4% CMT4C. The study provides information about the rate of natural progression of deficits in the CMT subtypes.   
Comment: The following conclusions were reached in this study:  
1. CMT PedS is sensitive to progress of CMT.
2. The rate of progress differed between most common subtypes of CMT.
3. Children with CMT deteriorate significantly over a 2-year period.

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