Advances in Pediatric Charcot-Marie-Tooth Disease

Course Description
Charcot-Marie-Tooth disease (CMT) is a heterogenous group of peripheral nerve diseases and it is the most prevalent genetic neuromuscular disease caused by mutations in more than one hundred various genes. The onset of disease often falls into the pediatric age group and may lead to significant disability. The Symposium will provide many updates regarding the causes of CMT, and will discuss validated assessment tools as well as new therapeutic approaches:

1. The genetic basis of various forms of CMTs including novel rare forms will be presented. A rational strategy for genetic testing will be provided.
2. New developments in standardized clinical evaluation tools (CMPTPeds, CMTInf) will be discussed. These tools are employed for natural history data collection in pediatric CMT and they may serve as outcome measures in emerging treatment trials.
3. Electrophysiology evaluation continues to be important in differential diagnosis of various CMTs from other types of neuropathies, moreover some parameters like CMAP may serve as biomarkers in clinical trial. Quantitative muscle MRI techniques are emerging as potential biomarkers along with some other biological measurements.
4. In vitro disease models and transgenic animal research are aimed at understanding the molecular pathology of CMTs leading to developments of new therapeutic targets.

Learning Objective

1. Learn about the genetic causes of CMT and acquire validated evaluation tools that can be used neuromuscular clinics.

Impact Statement

1. Help the audience to learn about proper diagnostic strategies, which could make their neuromuscular practice more efficient. Employing the validated functional assessment tools will make the long-term progression of CMT more accurate to assess.

Organizer:
Gyula Acsadi MD, PhD;
Connecticut Children’s Medical Center, University of Connecticut School of Medicine, Farmington, Connecticut, USA

Introduction to Charcot- Marie-Tooth Disease (CMT)
Gyula Acsadi MD, PhD

Genetic Basis of Charcot- Marie-Tooth Disease (CMT)
Shawna Feely, MS, LGC; University of Iowa Hospitals & Clinics, Iowa City, IA, USA

Validated Assessment Tools in Natural History for CMT
Timothy Estilow OTR/L; The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

Electrophysiology and Biomarkers
Richard A. Lewis, MD; Cedars-Sinai Medical Center, Los Angeles, California, USA

Molecular Basis of CMTs and Cellular Drug Targets
Mario Saporta, MD, PhD, MBA, FAAN; University of Miami, Miami, Florida, USA