Table 1.
Variable | DM1 patients | Unaffected controls | P-value |
---|---|---|---|
Sex, no. of men/women | 13/15 | 15/11 | 0.785 |
Age, mean in years ± SD | 46.0 ± 9.0 | 50.2 ± 12.4 | 0.167 |
Educational level, mean ± SD | 5.4 ± 1.0 | 5.4 ± 0.7 | 0.803 |
Functional vital capacity* (L), mean ± SD | 3.3 (0.9) | 4.4 (1.0) | 0.0001 |
Estimated CTG progenitor allele length, mean ± SD ^ | 250.12 ± 140.57 | N/A | N/A |
Modal CTG repeat length, mean ± SD^ | 441.84 ± 210.33 | N/A | N/A |
Age at onset in years, mean ± SD^ | 24.1 ± 12.1 | N/A | N/A |
Clinical disease classification, no. (%) of patients with cDM1, iDM1, jDM1, aDM1, loDM1 | 0 (0), 1 (4), 12 (43), 12 (43), 2 (7)# | N/A | N/A |
AES-c score^, mean ± SD | 36.0 ± 7.9 | N/A | N/A |
DM1-activ-c^, mean ± SD | 65.5 ± 15.7 | N/A | N/A |
CIS-fatigue^, mean ± SD | 40.9 ± 7.5 | N/A | N/A |
MDHI^, mean ± SD | 26.4 ± 15.0 | N/A | N/A |
MIRS score, no. (%) of patients^: 1/2/3/4/5 | 2 (7), 3 (11), 20 (71), 3 (11), 0 (0) | N/A | N/A |
BDI-fs^ score, median [IQR] | 2.0 [3.0] | N/A | N/A |
^ Data collected in OPTIMISTIC main study; *sitting position. cDM1: congenital onset DM1; iDM1: infantile onset DM1, jDM1: juvenile onset DM1; aDM1 adult onset DM1; loDM1: late-onset DM1.(De Antonio et al., 2016) #for one patient, age at onset of symptoms was unknown. AES-c: apathy evaluation scale, clinician version, CIS-fatigue: checklist individual strength, fatigue subscale; MDHI: myotonic dystrophy health index; MIRS: muscular impairment rating scale; BDI-fs: Beck depression inventory fast-screen.