Strategies for Diagnosis and Treatment of Charcot-Marie-Tooth Disease

Original Article

J Korean Assoc EMG Electrodiagn Med 2012;14(2):55-65.
Published online December 1, 2012.

Received: 12 November 2012 • Revised: 13 November 2012 • Accepted: 13 November 2012

Abstract

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies and is a genetically and clinically heterogeneous disorder with variable inheritance modes. Classifications of CMT are divided into autosomal dominant inherited demyelinating (CMT1) and axonal (CMT2) neuropathies, Xlinked neuropathy (CMTX), and autosomal recessive inherited neuropathy (CMT4). More than 50 genes have been identified as CMT causative genes. And several molecules have been reported to have therapeutic effects on CMT, depending on the underlying genetic causes. So, exact genetic diagnostics have become very important for executing personalized therapy. Also, recent studies of induced pluripotent stem cells widened the possibility of patient-specific cell therapy, drug discovery, and disease modeling. This review focuses on the new strategies for diagnosis and treatment of Charcot-Marie-Tooth disease.

Key Words: Charcot-Marie-Tooth disease, Exome, Diagnosis, Therapy, Stem cell