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CTG repeat length/phenotype correlation in myotonic dystrophy type 1
| Phenotype | Clinical Features | Repeat Size | Age of Onset |
|---|---|---|---|
| Mutable normal | None | 35–49 | NA |
| Mild | Cataracts Mild myotonia |
50-~150 | 20–70 years |
| Classic | Weakness Myotonia Cataracts Balding Cardiac arrhythmia |
~100-~1000 | 10–30 years |
| Congenital | Infantile hypotonia Respiratory deficits Intellectual disability Classic signs develop later |
~700- >1000 | Birth to 10 years |
