title: Diagnosis of Charcot-Marie-Tooth disease.
abstract: Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifestations include clumsiness of gait, predominantly distal muscular atrophy of the limbs, and deformity of the feet in the form of foot drop. It can be classified according to the pattern of transmission (autosomal dominant, autosomal recessive, or X linked), according to electrophysiological findings (demyelinating or axonal), or according to the causative mutant gene. The classification of CMT is complex and undergoes constant revision as new genes and mutations are discovered. In this paper, we review the most efficient diagnostic algorithms for the molecular diagnosis of CMT, which are based on clinical and electrophysiological data.
authors.affiliation: Molecular Diagnosis Center of Inherited Diseases, Institut de Investigació Biomèdica de Bellvitge, Gran Via 199, 08907 L'Hospitalet de Llobregat, Barcelona, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Banchs
authors.forename: Carlos
authors.initials: C
authors.lastname: Casasnovas
authors.forename: Antonia
authors.initials: A
authors.lastname: Albertí
authors.forename: Laura
authors.initials: L
authors.lastname: De Jorge
authors.forename: Mónica
authors.initials: M
authors.lastname: Povedano
authors.forename: Jordi
authors.initials: J
authors.lastname: Montero
authors.forename: Juan Antonio
authors.initials: JA
authors.lastname: Martínez-Matos
authors.forename: Victor
authors.initials: V
authors.lastname: Volpini
mesh_terms: D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D002874:Chromosome Mapping; D004594:Electrophysiology / Q000379:methods; D020869:Gene Expression Profiling; D006801:Humans; D051379:Mice; D009422:Nervous System Diseases / Q000175:diagnosis; D010525:Peripheral Nerves / Q000473:pathology; D015995:Prevalence