title: Pediatric Charcot-Marie-Tooth disease.
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.
authors.affiliation: Department of Neurology, University of Connecticut School of Medicine, Farmington, CT, USA.
authors.forename: Agnes
authors.initials: A
authors.lastname: Jani-Acsadi
authors.affiliation: Department of Orthopedic Surgery, Connecticut Children's Medical Center, Farmington, CT, USA.
authors.forename: Sylvia
authors.initials: S
authors.lastname: Ounpuu
authors.affiliation: Department of Orthopedic Surgery, Center of Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA.
authors.forename: Kristan
authors.initials: K
authors.lastname: Pierz
authors.affiliation: 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: gacsadi@connecticutchildrens.org.
authors.forename: Gyula
authors.initials: G
authors.lastname: Acsadi
mesh_terms: D017668:Age of Onset; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D002648:Child; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics; D010641:Phenotype
keywords: Charcot-Marie-Tooth disease; Electrophysiology; Gait; Pediatric