Research Article

Brain Connectomics’ Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1

Table 2

Principal genetic and clinical characteristics of DM1 patients.

DM1 patients

Age at onset:
Childhood-onset (age range: 6–16 years)12 (38.7%)
Adulthood-onset (age range: 18–60 years)19 (61.2%)

Size of CTG triplets’ expansion on DMPK gene:
Mean (SD) [range]637.1 (456.4) 54–2000]

IDMC nomenclature:
E1 (CTG range: 50–150) ( and %)1 (3.0%)
E2 (CTG range: 151–500) ( and %)15 (48.4%)
E3 (CTG range: 501–1000) ( and %)12 (38.74%)
E4 (CTG range: > 1000) ( and %)3 (9.7%)

MIRS stage:
Stage 1 ( and %)3 (9.7%)
Stage 2 ( and %)13 (41.9%)
Stage 3 ( and %)11 (35.5%)
Stage 4 ( and %)4 (12.8%)

DM1 = myotonic dystrophy type 1; DMPK = myotonic dystrophy protein kinase; IDMC = international myotonic dystrophy consortium; and MIRS = muscular impairment rating scale.