Congenital and Childhood Myotonic Dystrophy Research Survey: Instrument for Children Ages 5 to 7 (CCMD-HI 5-7)

This is a disease-specific Patient-reported outcome measure for patients with congenital, childhood-onset, or juvenile myotonic dystrophy type-1. This instrument was developed and validated through the outcome measures laboratory at the University of Rochester and based on original questions developed for adult myotonic dystrophy patients (also see UR Tech Id: 6-2189 “The Myotonic Dystrophy Health Index (MDHI)” for a more complete description).


Patients (ages 5 to 7) with congenital, childhood-onset or juvenile myotonic dystrophy type-1 complete this instrument to identity the level of disease burden for their child. This instrument was designed to be used as an outcome measure during clinical trials. 


This instrument has been thoroughly validated and designed to be used as a drug labeling tool (via FDA criteria). It can measure overall burden of disease and the level of disease in 21 separate areas of myotonic dystrophy subhealth. This instrument includes pictures to enable children with congenital, childhood-onset or juvenile myotonic dystrophy type-1 to better understand the questions.

This MDHI is a validated instrument capable of measuring clinically meaningful changes in patient health during clinical trials.  As a disease-specific instrument, this outcome measure focuses on the symptoms that are most important to myotonic dystrophy patients while excluding questions that are less relevant.  The content validity, face validity, construct validity, convergent validity, test retest reliability, and responsiveness of this instrument’s questions have been previously evaluated in preparation for this instrument’s use in drug labeling applications.

URV Reference Number: 6-15016
Patent Information:
For Information, Contact:
Cynthia Zhang
IP Attorney
University of Rochester
Chad Heatwole
Nicholas Johnson
Joanna Heatwole