PMID- 36484161
OWN - NLM
STAT- MEDLINE
DCOM- 20230124
LR  - 20230419
IS  - 1097-4598 (Electronic)
IS  - 0148-639X (Print)
IS  - 0148-639X (Linking)
VI  - 67
IP  - 2
DP  - 2023 Feb
TI  - Myotonic dystrophy type 1: A comparison between the adult- and late-onset 
      subtype.
PG  - 130-137
LID - 10.1002/mus.27766 [doi]
AB  - INTRODUCTION/AIMS: Although the extent of muscle weakness and organ complications 
      has not been well studied in patients with late-onset myotonic dystrophy type 1 
      (DM1), adult-onset DM1 is associated with severe muscle involvement and possible 
      life-threatening cardiac and respiratory complications. In this study we aimed to 
      compare the clinical phenotype of adult-onset vs late-onset DM1, focusing on the 
      prevalence of cardiac, respiratory, and muscular involvement. METHODS: Data were 
      prospectively collected in the Dutch DM1 registry. RESULTS: Two hundred 
      seventy-five adult-onset and 66 late-onset DM1 patients were included. Conduction 
      delay on electrocardiogram was present in 123 of 275 (45%) adult-onset patients, 
      compared with 24 of 66 (36%) late-onset patients (P = .218). DM1 subtype did not 
      predict presence of conduction delay (odds ratio [OR] 0.706; confidence interval 
      [CI] 0.405 to 1.230, P = .219). Subtype did predict indication for noninvasive 
      ventilation (NIV) (late onset vs adult onset: OR, 0.254; CI, 0.104 to 0.617; 
      P = .002) and 17% of late-onset patients required NIV compared with 40% of 
      adult-onset patients. Muscular Impairment Rating Scale (MIRS) scores were 
      significantly different between subtypes (MIRS 1 to 3 in 66% of adult onset vs 
      100% of late onset [P < .001]), as were DM1-activ(C) scores (67 +/- 21 in adult 
      onset vs 87 +/- 15 in late onset; P < .001). DISCUSSION: Although muscular 
      phenotype was milder in late-onset compared with adult-onset DM1, the prevalence 
      of conduction delay was comparable. Moreover, subtype was unable to predict the 
      presence of cardiac conduction delay. Although adult-onset patients had an 
      increased risk of having an NIV indication, 17% of late-onset patients required 
      NIV. Despite different muscular phenotypes, screening for multiorgan involvement 
      should be equally thorough in late-onset as in adult-onset DM1.
CI  - (c) 2022 The Authors. Muscle & Nerve published by Wiley Periodicals LLC.
FAU - Joosten, Isis B T
AU  - Joosten IBT
AUID- ORCID: 0000-0002-1110-6172
AD  - Department of Neurology and School for Mental Health and Neuroscience, Maastricht 
      University Medical Centre+, Maastricht, The Netherlands.
FAU - Horlings, Corinne G C
AU  - Horlings CGC
AD  - Department of Neurology and School for Mental Health and Neuroscience, Maastricht 
      University Medical Centre+, Maastricht, The Netherlands.
AD  - Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
FAU - Vosse, Bettine A H
AU  - Vosse BAH
AUID- ORCID: 0000-0002-9324-1289
AD  - Department of Respiratory Medicine, Maastricht University Medical Centre+, 
      Maastricht, The Netherlands.
FAU - Wagner, Anouk
AU  - Wagner A
AD  - Department of Neurology and School for Mental Health and Neuroscience, Maastricht 
      University Medical Centre+, Maastricht, The Netherlands.
FAU - Bovenkerk, David S H
AU  - Bovenkerk DSH
AD  - Department of Neurology and School for Mental Health and Neuroscience, Maastricht 
      University Medical Centre+, Maastricht, The Netherlands.
FAU - Evertz, Reinder
AU  - Evertz R
AD  - Department of Cardiology, Radboud University Medical Centre, Nijmegen, The 
      Netherlands.
FAU - Vernooy, Kevin
AU  - Vernooy K
AUID- ORCID: 0000-0002-8818-5964
AD  - Department of Cardiology, Radboud University Medical Centre, Nijmegen, The 
      Netherlands.
AD  - Department of Cardiology, Cardiovascular Research Institute Maastricht, 
      Maastricht University Medical Centre+, Maastricht, The Netherlands.
FAU - van Engelen, Baziel G M
AU  - van Engelen BGM
AUID- ORCID: 0000-0001-9867-9047
AD  - Department of Neurology, Donders Institute for Brain, Cognition and Behavior, 
      Radboud University Medical Centre, Nijmegen, The Netherlands.
FAU - Faber, Catharina G
AU  - Faber CG
AUID- ORCID: 0000-0002-2467-067X
AD  - Department of Neurology and School for Mental Health and Neuroscience, Maastricht 
      University Medical Centre+, Maastricht, The Netherlands.
LA  - eng
GR  - W.OR15-25/Prinses Beatrix Spierfonds/
GR  - W.TR19-01/Prinses Beatrix Spierfonds/
PT  - Journal Article
DEP - 20221222
PL  - United States
TA  - Muscle Nerve
JT  - Muscle & nerve
JID - 7803146
SB  - IM
MH  - Humans
MH  - *Myotonic Dystrophy/complications
MH  - Muscle Weakness/complications
MH  - *Respiration Disorders
MH  - Paresis
MH  - Phenotype
PMC - PMC10107795
OTO - NOTNLM
OT  - cardiomyopathy
OT  - conduction delay
OT  - muscle weakness
OT  - myotonic dystrophy
OT  - noninvasive ventilation
OT  - phenotype
COIS- B.G.M.V.E. reports grants from Prinses Beatrix Spierfonds, paid to the 
      institution and outside the submitted work. C.G.F. reports grants from Prinses 
      Beatrix Spierfonds, paid to the institution, including grants to fund the current 
      study. The remaining authors declare no conflicts of interest.
EDAT- 2022/12/10 06:00
MHDA- 2023/01/25 06:00
PMCR- 2023/04/17
CRDT- 2022/12/09 04:24
PHST- 2022/11/30 00:00 [revised]
PHST- 2022/06/15 00:00 [received]
PHST- 2022/12/04 00:00 [accepted]
PHST- 2022/12/10 06:00 [pubmed]
PHST- 2023/01/25 06:00 [medline]
PHST- 2022/12/09 04:24 [entrez]
PHST- 2023/04/17 00:00 [pmc-release]
AID - MUS27766 [pii]
AID - 10.1002/mus.27766 [doi]
PST - ppublish
SO  - Muscle Nerve. 2023 Feb;67(2):130-137. doi: 10.1002/mus.27766. Epub 2022 Dec 22.