Research Article

Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at One Single Expert Center

Table 3

Clinical and demographic comparison between cohorts according to NIV indication.

Cohort 1 (n = 84)Cohort 2 (n = 67)p value
No NIV indicationNIV indication at baseline

Age38.00 [29.00–47.00]49.00 [42.00–58.00]<0.0001

Sex, n (%)0.0387
 Male31 (36.9)36 (53.7)
 Female53 (63.1)31 (46.3)

MIRS, n (%)0.0032
 18 (9.5)1 (1.5)
 226 (31)10 (14.9)
 329 (34.5)21 (31.3)
 419 (22.6)33 (49.3)
 52 (2.4)2 (3)

Disease duration11.00 [6.00–18.00]14.00 [8.50–22.00]0.0367
BMI23.86 [21.30–25.85]25.83 [23.39–30.00]0.0017

CTG
 E1178
 E25556
 E3113
 E410

Sitters2 (2.4)2 (3)0.8183
PM/ICD, n (%)3 (3.6)10 (14.9)0.0184

All values are presented as median and interquartile range, except where otherwise indicated. ,§,° significance is indicated after Bonferroni correction. CTG expansion size was classified according to the scale of Tsilfidis and colleagues (Tsilfidis C, Mackenzie AE, Mettler G, et al. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet 1992; 1 : 192–5): E0, 38–79; E1, 80–499; E2, 500–999; E3, 1000–1499; E4, >1500. NIV, noninvasive ventilation; MIRS, Muscular Impairment Rating Scale; BMI, body mass index; PM, pacemaker; ICD, implantable cardiac defibrillator.