The development of a disease specific patient reported outcome for Charcot Marie Tooth disease is an important step in preparation for therapeutic trials. This study describes the development of the Charcot Marie Tooth Health Index (CMTHI) based on responses of participants from the Inherited Neuropathy Consortium Contact Registry. Factor analysis, assessment of test-retest reliability, known groups validity, and patient interviews were used to refine the instrument. The final CMTHI contains 18 themes that capture CMT disease burden. The CMTHI has a high internal consistency and test-retest reliability. The CMTHI was able to discriminate between patient groups expected to have different disease burden. The CMTHI was able to discriminate levels of disability as measured by the CMT exam score and the mobility-Disability Severity Index.
