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PMID: 19826499 Published · ppublish English Journal Article Review

Diagnosis of Charcot-Marie-Tooth disease.

Journal of biomedicine & biotechnology ·Vol. 2009 ·2009-00-00 ·Pages 985415

Banchs I, Casasnovas C, Albertí A, De Jorge L, Povedano M, Montero J, Martínez-Matos JA, Volpini V

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.

MeSH Terms
Animals Charcot-Marie-Tooth Disease/classification,diagnosis,epidemiology,genetics Chromosome Mapping Electrophysiology/methods Gene Expression Profiling Humans Mice Nervous System Diseases/diagnosis Peripheral Nerves/pathology Prevalence
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Banchs Isabel
Molecular Diagnosis Center of Inherited Diseases, Institut de Investigació Biomèdica de Bellvitge, Gran Via 199, 08907 L'Hospitalet de Llobregat, Barcelona, Spain.
Casasnovas Carlos
Albertí Antonia
De Jorge Laura
Povedano Mónica
Montero Jordi
Martínez-Matos Juan Antonio
Volpini Victor
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Article Info
Journal
Journal of biomedicine & biotechnology
Abbr.
J Biomed Biotechnol
ISSN
1110-7251
DOI
10.1155/2009/985415
Published
2009-00-00
Epub
2009-00-08
Pages
985415
Language
English
Region
United States
NLM ID
101135740
PMCID
PMC2760395
Subset
IM
External Links
PubMed source DOI: 10.1155/2009/985415 PMC Full Text
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