Journal article
Charcot-Marie-Tooth Neuropathies: Diagnosis and Management
Seminars in neurology, Vol.28(2), pp.185-194
04/2008
DOI: 10.1055/s-2008-1062264
PMID: 18351520
Abstract
ABSTRACT
Charcot-Marie-Tooth (CMT) disease is caused by mutations in several genes expressed in myelinating Schwann cells and the axons they ensheathe. Typical patients present with distally accentuated motor weakness, muscle wasting, and sensory loss leading to significant and progressive clinical morbidity and impaired quality of life. The wealth of recent information regarding genotype-phenotype correlations, recognition of disease heterogeneity, and newly characterized animal models provide exciting insights into the molecular disease-related pathogenetic and pathophysiologic mechanisms. These advances at the same time also represent a challenge for the diagnosis and management of these patients, with no presently available specific curative or disease modifying treatments. A better understanding of the pathogenesis of peripheral neuropathies is an invaluable tool in developing future supportive and curative therapies for patients with CMT disease that will improve their quality of life. In this review, we provide practical insights on current diagnostic and therapeutic modalities and suggest future diagnostic and therapeutic directions.
Details
- Title: Subtitle
- Charcot-Marie-Tooth Neuropathies: Diagnosis and Management
- Creators
- Agnes Jani-Acsadi - Department of Neurology, Wayne State University School of Medicine, Detroit, MichiganKaren Krajewski - Department of Neurology, Wayne State University School of Medicine, Detroit, MichiganMichael E Shy - Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan
- Resource Type
- Journal article
- Publication Details
- Seminars in neurology, Vol.28(2), pp.185-194
- DOI
- 10.1055/s-2008-1062264
- PMID
- 18351520
- ISSN
- 0271-8235
- eISSN
- 1098-9021
- Language
- English
- Date published
- 04/2008
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984020337102771
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