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New and emerging treatments of Charcot-Marie-Tooth disease
Journal article   Peer reviewed

New and emerging treatments of Charcot-Marie-Tooth disease

Kathryn M Brennan and Michael E Shy
Expert opinion on orphan drugs, Vol.3(2), pp.151-164
02/01/2015
DOI: 10.1517/21678707.2015.1009037

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Abstract

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 pathways that cause demyelination or axonal degeneration. It also makes it possible to develop and test rational therapies to reduce disability although many challenges exist including development of sensitive reproducible outcome measures and markers of disease progression.
 unfolded protein response pluripotent stem cells Charcot-Marie-Tooth disease inherited neuropathies myelin protein zero peripheral myelin protein 22

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