Charcot-Marie-Tooth disease.
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.
Buteică
Elena
E
Department of Genetics, University of Medicine and Pharmacy of Craiova, Romania. buteicaelena@yahoo.com
Roşulescu
Eugenia
E
Stănoiu
B
B
Burada
F
F
Stănoiu
Cosmina
C
Zăvăleanu
Mihaela
M
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