Tag: CMTX

• The “first treatable” form of CMT?

  

  I wrote this brief article on the way the SORD gene works (or fails to work) for the Hereditary Neuropathy Foundation. SORD mutations cause “the most common autosomal recessive form of CMT2 (CMT2A1), autosomal recessive intermediate CMT (CMTRIA), and the overlapping category of distal hereditary motor neuropathy (dHMN).”

  Dan Knauss

  March 18, 2021

  News, Research, Therapy

  CMT2, CMT2A1, CMTRIA, CMTX, sorbitol dehydrogenase

• The State of Research for Cures (2019)

  

  The US-based CMTA (Charcot Marie Tooth Association) has a 12-year-old program called the Strategy to Accelerate Research (STAR) that is actively pursuing the causes and possible cures for CMT. STAR will cover nearly all CMT Type 1s and 2s, including types with as yet unidentified genetic causes.

  Dan

  December 31, 2019

  Research

  Antisense Oligonucleotides, Axon, CMT1, CMT1A, CMT1B, CMT1X, CMT2, CMT2A, CMT2E, CMT4, CMT4C, CMTX, CRISPR, Inherited Neuropathies Consortium, Ionis Pharmaceuticals, Kleopas Kleopa, Mitofusin 2, Muscular Dystrophy, Myelin, Neuromuscular Disorders, PMP22, Schwann Cells, Spinal Muscular Atrophy, STAR, Stephan Züchner