title: Myotonic dystrophy health index: Correlations with clinical tests and patient function.
abstract: BACKGROUND
  The Myotonic Dystrophy Health Index (MDHI) is a disease-specific patient-reported outcome measure. Here, we examine the associations between the MDHI and other measures of disease burden in a cohort of individuals with myotonic dystrophy type-1 (DM1).
  
  
  METHODS
  We conducted a cross-sectional study of 70 patients with DM1. We examined the associations between MDHI total and subscale scores and scores from other clinical tests. Participants completed assessments of strength, myotonia, motor and respiratory function, ambulation, and body composition. Participants also provided blood samples, underwent physician evaluations, and completed other patient-reported outcome measures.
  
  
  RESULTS
  MDHI total and subscale scores were strongly associated with muscle strength, myotonia, motor function, and other clinical measures.
  
  
  CONCLUSIONS
  Patient-reported health status, as measured by the MDHI, is associated with alternative measures of clinical health. These results support the use of the MDHI as a valid tool to measure disease burden in DM1 patients.
authors.affiliation: The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.
authors.forename: Chad
authors.initials: C
authors.lastname: Heatwole
authors.affiliation: Psychometric Consultant, Chicago, Illinois, USA.
authors.forename: Rita
authors.initials: R
authors.lastname: Bode
authors.affiliation: The University of Utah, Salt Lake City, Utah, USA.
authors.forename: Nicholas E
authors.initials: NE
authors.lastname: Johnson
authors.affiliation: The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.
authors.forename: Jeanne
authors.initials: J
authors.lastname: Dekdebrun
authors.affiliation: The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.
authors.forename: Nuran
authors.initials: N
authors.lastname: Dilek
authors.affiliation: The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.
authors.forename: Katy
authors.initials: K
authors.lastname: Eichinger
authors.affiliation: The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.
authors.forename: James E
authors.initials: JE
authors.lastname: Hilbert
authors.affiliation: The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.
authors.forename: Eric
authors.initials: E
authors.lastname: Logigian
authors.affiliation: The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Luebbe
authors.affiliation: The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.
authors.forename: William
authors.initials: W
authors.lastname: Martens
authors.affiliation: The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.|The University of Rochester Medical Center, Department of Biostatistics and Computational Biology, Rochester, New York, USA.
authors.forename: Michael P
authors.initials: MP
authors.lastname: Mcdermott
authors.affiliation: The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.
authors.forename: Shree
authors.initials: S
authors.lastname: Pandya
authors.affiliation: The University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
authors.forename: Araya
authors.initials: A
authors.lastname: Puwanant
authors.affiliation: Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
authors.forename: Nan
authors.initials: N
authors.lastname: Rothrock
authors.affiliation: The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.
authors.forename: Charles
authors.initials: C
authors.lastname: Thornton
authors.affiliation: David Geffen School of Medicine, UCLA Medical Center, Los Angeles, California, USA.|Greater Los Angeles VA HealthCare System, Los Angeles, California, USA.
authors.forename: Barbara G
authors.initials: BG
authors.lastname: Vickrey
authors.affiliation: Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
authors.forename: David
authors.initials: D
authors.lastname: Victorson
authors.affiliation: The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.
authors.forename: Richard T
authors.initials: RT
authors.lastname: Moxley
mesh_terms: D015502:Absorptiometry, Photon; D000328:Adult; D000368:Aged; D003402:Creatine Kinase / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength / Q000502:physiology; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000503:physiopathology*; D009460:Neurologic Examination; D017063:Outcome Assessment, Health Care / Q000379:methods*; D012720:Severity of Illness Index; D013223:Statistics as Topic; D055815:Young Adult
chemical_list: D003402:Creatine Kinase
keywords: muscle disease; myotonic dystrophy Type-1; patient-relevant; patient-reported outcome measure; quality of life; therapeutic trial