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[Charcot-Marie-Tooth (CMT) disease: an update].
Med Sci (Paris). 2010 Oct; 26(10):842-7.MS

Abstract

Charcot-Marie-Tooth (CMT) <<disease>> is the generic name given to a group of genetic disorders characterized by a relatively isolated dysfunction of peripheral nerves, with combined motor and sensory impairment. These CMT syndromes are the most frequent genetically-determined peripheral neuropathies, with a global prevalence between 4.7 and 36/100,000. Their clinical phenotype is predominantly motor, with a grossly symmetrical distal amyotrophy involving both lower and upper limbs. Mode of inheritance is variable: autosomal dominant, autosomal recessive or X-linked. Apparently sporadic forms can be a difficult diagnosis and they must be considered in all patients with a chronic polyneuropathy which is not clearly of acquired origin. During the last two decades, the identification of more than 25 genes mutated in CMT syndromes has complicated the classification of these disorders. Knowledge of the function of some of these genes has improved our understanding of the pathogenesis of myelinic or axonal dysfunction in CMT, but for some others their function remains elusive or unknown.

Authors+Show Affiliations

Service de neurologie, Laboratoire de neuropathologie, neuropathies périphériques rares, Centre de référence, Laboratoire de biochimie et génétique moléculaire, CHU de Limoges, Limoges Cedex, France. jean-michel.vallat@unilim.frNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

fre

PubMed ID

20929675

Citation

Vallat, Jean-Michel, and Benoît Funalot. "[Charcot-Marie-Tooth (CMT) Disease: an Update]." Medecine Sciences : M/S, vol. 26, no. 10, 2010, pp. 842-7.
Vallat JM, Funalot B. [Charcot-Marie-Tooth (CMT) disease: an update]. Med Sci (Paris). 2010;26(10):842-7.
Vallat, J. M., & Funalot, B. (2010). [Charcot-Marie-Tooth (CMT) disease: an update]. Medecine Sciences : M/S, 26(10), 842-7. https://doi.org/10.1051/medsci/20102610842
Vallat JM, Funalot B. [Charcot-Marie-Tooth (CMT) Disease: an Update]. Med Sci (Paris). 2010;26(10):842-7. PubMed PMID: 20929675.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Charcot-Marie-Tooth (CMT) disease: an update]. AU - Vallat,Jean-Michel, AU - Funalot,Benoît, PY - 2010/10/9/entrez PY - 2010/10/12/pubmed PY - 2010/12/24/medline SP - 842 EP - 7 JF - Medecine sciences : M/S JO - Med Sci (Paris) VL - 26 IS - 10 N2 - Charcot-Marie-Tooth (CMT) <<disease>> is the generic name given to a group of genetic disorders characterized by a relatively isolated dysfunction of peripheral nerves, with combined motor and sensory impairment. These CMT syndromes are the most frequent genetically-determined peripheral neuropathies, with a global prevalence between 4.7 and 36/100,000. Their clinical phenotype is predominantly motor, with a grossly symmetrical distal amyotrophy involving both lower and upper limbs. Mode of inheritance is variable: autosomal dominant, autosomal recessive or X-linked. Apparently sporadic forms can be a difficult diagnosis and they must be considered in all patients with a chronic polyneuropathy which is not clearly of acquired origin. During the last two decades, the identification of more than 25 genes mutated in CMT syndromes has complicated the classification of these disorders. Knowledge of the function of some of these genes has improved our understanding of the pathogenesis of myelinic or axonal dysfunction in CMT, but for some others their function remains elusive or unknown. SN - 0767-0974 UR - https://www.unboundmedicine.com/medline/citation/20929675/[Charcot_Marie_Tooth__CMT__disease:_an_update]_ L2 - http://publications.edpsciences.org/10.1051/medsci/20102610842 DB - PRIME DP - Unbound Medicine ER -