[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].

Autores de IIS La Fe

• 

  Teresa Sevilla Mantecón

  Autor

• Rafael Sivera Mascaró

  Autor

• Juan Jesús Vílchez Padilla

  Autor

• Isabel Illa Sendra

  Autor

Participantes ajenos a IIS La Fe

• Berciano J
• Casasnovas C
• Infante J
• Ramón C
• Pelayo-Negro AL
• Programa 3 (Enfermedades Neuromusculares) del Centro de Investigación Biomédica

Grupos

• Patología Neuromuscular y Ataxias

Abstract

Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor conduction velocity (MCV) of the median nerve, CMT encompasses five main forms: CMT1 (autosomal dominant [AD] or X-linked transmission and MCV < 38 m/s); CMT2 (AD or X-linked transmission and MCV > 38 m/s); CMT4 (autosomal recessive [AR] and severe slowing of MCV); AR-CMT2 (AR transmission and MCV > 38 m/s); and DI-CMT (intermediate form with AD transmission and MCV between 30 and 40 m/s). In spite of its stereotyped semiological repertoire (basically, symptoms and signs of sensory-motor polyneuropathy and pes cavus), CMT seems to be one of the most complex hereditary neurodegenerative syndromes, 31 causative genes having been cloned.