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The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Charcot-Marie-Tooth disease research and drug development by using cells from the body (such as skin or blood cells) to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and/or store the samples for future use. Through this research, researchers hope to identify future treatments or even cures for Charcot-Marie-Tooth disease.
The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study.
This is an observational longitudinal study to determine the natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C (CMT4C). The investigators will also be determine the capability of the newly developed CMT Pediatric Scale (CMT Peds scale) and the Minimal Dataset to measure impairment and perform longitudinal measurements in patients with multiple forms of CMT over a five year window
The overall objective of the proposed research is to begin to better understand the potential benefits and limitations of ankle -foot orthosis (AFO) use in the context of mobility and balance during gait for individuals with Charcot-Marie-Tooth disease (CMT). These benefits will be studied in comparison to those offered by surgical correction. We will accomplish by having subjects undergo mobility and balance tests in our gait analysis lab.
The Hawks in Motion (HIM) High Intensity Exercise program is designed to implement the American Physical Therapy Clinical Practice Guidelines and American College of Sports Medicine recommendations for exercise for people with neurologic disability. Doctor of Physical Therapy (DPT) students administer the HIM High Intensity Exercise Program. A prior study evaluated the feasibility, safety, and efficacy of the HIM High Intensity Exercise Program and found it feasible, safe, and effective for 30 people with neurologic disabilities between the ages of 8-99 years. The investigators would like to evaluate whether participation in the HIM High Intensity Exercise Program affects mobility in everyday life. Physical activity will be measured one week before program implementation and one week after to assess if the participants' mobility in everyday improved.