Diagnosis of Charcot-Marie-Tooth Disease
Joint Authors
Montero, Jordi
Povedano, Mònica
Banchs, Isabel
Albertí, Antonia
Casasnovas, Carlos
De Jorge, Laura
Martínez-Matos, Juan Antonio
Volpini, Victor
Source
Journal of Biomedicine and Biotechnology
Issue
Vol. 2009, Issue 2009 (31 Dec. 2009), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2009-10-08
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Banchs, Isabel& Casasnovas, Carlos& Albertí, Antonia& De Jorge, Laura& Povedano, Mònica& Montero, Jordi…[et al.]. 2009. Diagnosis of Charcot-Marie-Tooth Disease. Journal of Biomedicine and Biotechnology،Vol. 2009, no. 2009, pp.1-10.
https://search.emarefa.net/detail/BIM-513707
Modern Language Association (MLA)
Banchs, Isabel…[et al.]. Diagnosis of Charcot-Marie-Tooth Disease. Journal of Biomedicine and Biotechnology No. 2009 (2009), pp.1-10.
https://search.emarefa.net/detail/BIM-513707
American Medical Association (AMA)
Banchs, Isabel& Casasnovas, Carlos& Albertí, Antonia& De Jorge, Laura& Povedano, Mònica& Montero, Jordi…[et al.]. Diagnosis of Charcot-Marie-Tooth Disease. Journal of Biomedicine and Biotechnology. 2009. Vol. 2009, no. 2009, pp.1-10.
https://search.emarefa.net/detail/BIM-513707
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-513707