New and emerging treatments of Charcot–Marie–Tooth disease
| Autor: | Kathryn M. Brennan, Michael E. Shy |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
medicine.diagnostic_test
business.industry Health Policy Myelin protein zero Genetic counseling Disease Bioinformatics Inherited neuropathies Tooth disease Peripheral myelin protein 22 Immunology medicine Pharmacology (medical) Identification (biology) business Pharmacology Toxicology and Pharmaceutics (miscellaneous) Genetic testing |
| Zdroj: | Expert Opinion on Orphan Drugs. 3:151-164 |
| ISSN: | 2167-8707 |
| DOI: | 10.1517/21678707.2015.1009037 |
| Popis: | Introduction: Inherited neuropathies known collectively as Charcot–Marie–Tooth (CMT) disease are one of the most common inherited neurological conditions affecting ∼ 1 in 2500 people. Despite the clinical similarities among patients with CMT, it is recognized that this group of disorders is both genetically and phenotypically heterogeneous, which results in the need for therapeutic strategies based on specific pathogenic mechanisms.Areas covered: Improvements in genetic testing techniques have contributed to identification of specific genes, proteins and molecular pathways that provide the basis for developing rational approaches to therapy, genetic counseling and family planning. Therapeutic approaches should also include day-to-day management issues such as orthotic use, exercise approaches and the development of standards of care for patients with inherited neuropathies.Expert opinion: Identification of genetic causes of neuropathy has made it possible to identify specific disease causing molecular pat... |
| Databáze: | OpenAIRE |
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