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