Clinical and genetic characteristics of childhood-onset myotonic dystrophy.
Mathew StokesNatasha VarugheseSusan IannacconeDiana CastroPublished in: Muscle & nerve (2019)
Myotonic dystrophy type 1 in children requires a multidisciplinary approach to management. Presenting symptoms vary, and repeat expansion size does not necessarily directly relate to severity of symptoms. A consensus for outcome measures is required.