title: Charcot-Marie-Tooth disease.
abstract: Charcot-Marie-Tooth (CMT) disease is a group of genetic peripheral neuropathies that is associated with a broad variety of clinical genetic features. Most CMT syndromes are characterized by a progressive muscle weakness and atrophy with a distally pronounced sensory dysfunction. Bone deformities as pes cavus or hammertoes are frequent. The severity of disability varies considerably between different subclasses. Physical examination, electrophysiological testing and family history are current methods to investigate a patient affected by CMT. We used these methods for clinical assessment of two cases. Whenever available molecular genetic testing establishes the certain diagnosis and defines the type of CMT.
authors.affiliation: Department of Genetics, University of Medicine and Pharmacy of Craiova, Romania. buteicaelena@yahoo.com
authors.forename: Elena
authors.initials: E
authors.lastname: Buteică
authors.forename: Eugenia
authors.initials: E
authors.lastname: Roşulescu
authors.forename: B
authors.initials: B
authors.lastname: Stănoiu
authors.forename: F
authors.initials: F
authors.lastname: Burada
authors.forename: Cosmina
authors.initials: C
authors.lastname: Stănoiu
authors.forename: Mihaela
authors.initials: M
authors.lastname: Zăvăleanu
mesh_terms: D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000175:diagnosis*; D002648:Child; D005260:Female; D005530:Foot Deformities / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D010375:Pedigree; D012600:Scoliosis / Q000175:diagnosis / Q000209:etiology