Pediatric Charcot-Marie-Tooth disease

Agnes Jani-Acsadi; Sylvia Ounpuu; Kristan Pierz; Gyula Acsadi

doi:10.1016/j.pcl.2015.03.012

Pediatric Charcot-Marie-Tooth disease

Pediatr Clin North Am. 2015 Jun;62(3):767-86. doi: 10.1016/j.pcl.2015.03.012. Epub 2015 Apr 15.

Authors

Agnes Jani-Acsadi¹, Sylvia Ounpuu², Kristan Pierz³, Gyula Acsadi⁴

Affiliations

¹ Department of Neurology, University of Connecticut School of Medicine, Farmington, CT, USA.
² Department of Orthopedic Surgery, Connecticut Children's Medical Center, Farmington, CT, USA.
³ Department of Orthopedic Surgery, Center of Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA.
⁴ Division of Neurology, Department of Neurology, Connecticut Children's Medical Center, University of Connecticut School of Medicine, 505 Farmington Avenue, Farmington, CT 06032, USA. Electronic address: [email protected].

PMID: 26022174
DOI: 10.1016/j.pcl.2015.03.012

Abstract

Heritable diseases of the peripheral nerves (Charcot-Marie-Tooth disease [CMT]) affect the motor units and sensory nerves, and they are among the most prevalent genetic conditions in the pediatric patient population. The typical clinical presentation includes distal muscle weakness and atrophy, but the severity and progression are largely variable. Improvements in supportive treatment have led to better preservation of patients' motor functions. More than 80 genes have been associated with CMT. These genetic discoveries, along with the developments of cellular and transgenic disease models, have allowed clinicians to better understand the disease mechanisms, which should lead to more specific treatments.

Keywords: Charcot-Marie-Tooth disease; Electrophysiology; Gait; Pediatric.

Publication types

Review

MeSH terms

Age of Onset
Charcot-Marie-Tooth Disease / diagnosis
Charcot-Marie-Tooth Disease / genetics*
Charcot-Marie-Tooth Disease / physiopathology
Charcot-Marie-Tooth Disease / therapy
Child
Genotype
Humans
Mutation / genetics
Phenotype