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[Charcot-Marie-Tooth disease].
Acta Neurol Taiwan. 2008 Sep; 17(3):203-13.AN

Abstract

Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HMSN), is the most common inherited peripheral neuropathy, comprised by a group of genetically heterogeneous disorders that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, and depressed tendon reflexes. It can be categorized according to its electrophysiological or pathological features, transmission patterns, age of disease onset, and molecular pathology. CMT type 1 (CMT1; MIM 118200) is a group of autosomal dominant-inherited demyelinating neuropathies with a disease onset at or after childhood. Five different subtypes have been identified based on different causative genes. Among them, CMT1A (MIM #118220) is most common and is usually associated with a duplication of a 1.5-Mb region on chromosome 17p11.2, which includes peripheral myelin protein 22 gene (PMP22; MIM *601097). Currently, there is no cure or obviously effective disease-modifying treatment for CMT. Two potential effective therapeutic agents for CMT1A were investigated recently. One is ascorbic acid and another is neurotrophin-3 (NT-3), an important component of the Schwann cell autocrine survival loop. Early diagnosis can facilitate CMT patients to modify their life styles timely for minimizing nerve injury to delay or avoid disability. Molecular diagnosis of CMT can provide the basis for appropriate genetic counseling and further CMT research.

Authors+Show Affiliations

Section of Neurology, Taichung Veterans General Hospital, Taichung, Taiwan. yclee@vghtc.gov.twNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

chi

PubMed ID

18975529

Citation

Lee, Yi-Chung, et al. "[Charcot-Marie-Tooth Disease]." Acta Neurologica Taiwanica, vol. 17, no. 3, 2008, pp. 203-13.
Lee YC, Chang MH, Lin KP. [Charcot-Marie-Tooth disease]. Acta Neurol Taiwan. 2008;17(3):203-13.
Lee, Y. C., Chang, M. H., & Lin, K. P. (2008). [Charcot-Marie-Tooth disease]. Acta Neurologica Taiwanica, 17(3), 203-13.
Lee YC, Chang MH, Lin KP. [Charcot-Marie-Tooth Disease]. Acta Neurol Taiwan. 2008;17(3):203-13. PubMed PMID: 18975529.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Charcot-Marie-Tooth disease]. AU - Lee,Yi-Chung, AU - Chang,Ming-Hon, AU - Lin,Kon-Ping, PY - 2008/11/4/pubmed PY - 2008/12/17/medline PY - 2008/11/4/entrez SP - 203 EP - 13 JF - Acta neurologica Taiwanica JO - Acta Neurol Taiwan VL - 17 IS - 3 N2 - Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HMSN), is the most common inherited peripheral neuropathy, comprised by a group of genetically heterogeneous disorders that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, and depressed tendon reflexes. It can be categorized according to its electrophysiological or pathological features, transmission patterns, age of disease onset, and molecular pathology. CMT type 1 (CMT1; MIM 118200) is a group of autosomal dominant-inherited demyelinating neuropathies with a disease onset at or after childhood. Five different subtypes have been identified based on different causative genes. Among them, CMT1A (MIM #118220) is most common and is usually associated with a duplication of a 1.5-Mb region on chromosome 17p11.2, which includes peripheral myelin protein 22 gene (PMP22; MIM *601097). Currently, there is no cure or obviously effective disease-modifying treatment for CMT. Two potential effective therapeutic agents for CMT1A were investigated recently. One is ascorbic acid and another is neurotrophin-3 (NT-3), an important component of the Schwann cell autocrine survival loop. Early diagnosis can facilitate CMT patients to modify their life styles timely for minimizing nerve injury to delay or avoid disability. Molecular diagnosis of CMT can provide the basis for appropriate genetic counseling and further CMT research. SN - 1028-768X UR - https://www.unboundmedicine.com/medline/citation/18975529/[Charcot_Marie_Tooth_disease]_ L2 - http://www.diseaseinfosearch.org/result/1276 DB - PRIME DP - Unbound Medicine ER -
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