12-Month progression of motor and functional outcomes in congenital myotonic dystrophy: Muscle and Nerve

K.H. Quigg, K.N. Berggren, M. McIntyre, K. Bates, F. Salmin, J.L. Casiraghi, A. DʼAmico, G. Astrea, F. Ricci, M.J. McKay, J.N. Baldwin, J. Burns, C. Campbell, V.A. Sansone, N.E. Johnson

Research output: Contribution to journalArticlepeer-review

Abstract

Background: We aim to describe 12-mo functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM). Methods: CDM participants performed the 6 Minute Walk Test (6MWT), 10 Meter Run, 4 Stair Climb, Grip Strength, and Lip Force at baseline and 12-mo visits. Parents completed the Vineland Adaptive Behavior Scale. Results: Forty-seven participants, aged 0 to 13 y old, with CDM were enrolled. 6MWT, 10 Meter Run, and 4 Stair Climb were completed in >85% of eligible participants. The only significant difference between mean baseline and 12-mo performance was an improvement in 6MWT in children 3-6 y old (P =.008). This age group also had the largest mean % improvement in performance in all other timed functional testing. In children >7 y, the slope of change on timed functional tests decreased or plateaued, with further reductions in performance in children ≥10 y. Participants with CTG repeat lengths 1000. Conclusions: The 6MWT, 10 Meter Run, and 4 Stair Climb were the most feasible measures. Our findings are consistent with the clinical profile and prior cross-sectional data, helping to establish reasonable expectations of functional trajectories in this population as well as identifying points in which therapeutic interventions may be best studied. Further study of outcomes in children >10 y old and
Original languageEnglish
Pages (from-to)384-391
Number of pages8
JournalMuscle Nerve
Volume63
Issue number3
DOIs
Publication statusPublished - 2021

Keywords

  • congenital myotonic dystrophy
  • functional outcomes
  • mobility measures
  • myotonic dystrophy
  • Six Minute Walk Test
  • adaptive behavior
  • adolescent
  • age
  • Article
  • behavior assessment
  • child
  • clinical article
  • cohort analysis
  • disease exacerbation
  • female
  • functional status
  • grip strength
  • heart atrium arrhythmia
  • heart right ventricle hypertrophy
  • human
  • male
  • motor performance
  • observational study
  • PR interval
  • preschool child
  • priority journal
  • school child
  • six minute walk test
  • vineland adaptive behavior scale
  • walking distance

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