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Connecticut Researchers Develop Effective Treatment Strategy for Charcot-Marie-Tooth Disease in Children and Youth

New research from a collaboration between Connecticut Children’s Medical Center and UConn Health has identified a potential treatment strategy for Charcot-Marie-Tooth (CMT) disease.

CMT is one of the most common inherited neurological disorders, observed commonly in children and youth. This devastating disease usually results in distal weakness, atrophy, sensory loss, and absent reflexes.

This team has recently collaborated on a detailed description of pediatric CMT that was published in Pediatric Clinics of North America in June of 2015.  This comprehensive overview covers all aspects of pediatric CMT, including genetics, diagnostics, clinical features, physical exam findings, and gait-related issues to treatment. It brings the expertise of multiple disciplines together to provide the reader with an all-encompassing understanding of pediatric CMT and is an excellent resource for those treating pediatric CMT.

This work is a collaboration between and Connecticut Children’s Center for Motion Analysis, Division of Orthopaedics, and Division of Neurology and UConn Health’s Department of Neuroscience. The lead author is Agnes A. Jani-Acsadi, MD, Associate Professor of Neurology and Interim Chair of Neurology at UConn Health. The co-authors are Gyula Acsadi, MD, Division Head of Neurology at Connecticut Children’s and Sylvia Ounpuu, MSc, the Director of Research and Education at Connecticut Children’s Center for Motion Analysis. “This collaboration has been developing over several years and currently includes a joint study to understand orthopaedic treatment outcomes in reference to disease progression,” Ounpuu said.

The baseline data for this study of the pathomechanics of CMT in terms of comprehensive motion analysis measures was published in the journal Gait & Posture in 2013.

In the publication, Ounpuu and the team examined the gait patterns in children and youth with CMT using motion analysis techniques and relate these findings back to the clinical assessment at the ankle. Ultimately, the team would like to better provide treatment for the immediate needs of these patients in terms of their ability to walk and perform activities of living.  This is being worked on through a current study of orthopaedic outcomes, natural progression of this disease in terms of function and gaining a better understanding of the pathomechanics.

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