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INC Research Study 6602: Genetics of Charcot Marie Tooth Disease
CMTA-Funded Research Database for CMT2 Identifies New Disease-Causing Mutations While researchers have identified more than 90 mutated genes that cause CMT, approximately 50 percent of CMT2 patients do not yet…
CMTA_2011_Annual_Report
Inherited Neuropathies Consortium Study 6611: Charcot-Marie-Tooth disease Infant Scale
…disability that is already in place. Clinical outcome assessments have been developed for adults (CMT Neuropathy Score (CMTNS)) and for children 3 years of age and older (CMT Pediatric Scale…
Genetic Testing
…have had one of five conditions, caused by mutations in four genes: CMT1A (PMP22 gene duplication), CMTX1 (aka CMT1X, CMTX) (GJB1 gene mutation), CMT1B (MPZ gene mutation), HNPP (PMP22 gene…
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2021 STAR Accomplishments
…for CMT 1A. Funding of new major Biomarker initiatives for CMT1B and CMT1X and CMT2A. Drug Development Efforts Initiatives in CMT1A, CMT1X, CMT2A, CMT1B, CMT4B1, 2D, SORD and others in…
SORD Research
…the premier CMT clinic in Florida and is a member of the CMTA STAR Advisory Board. “Without the support of the Inherited Neuropathy Consortium and the CMTA, this work would…