Cure Myotonic Dystrophy UK: Facilitating and Accelerating Clinical Research in Congenital Myotonic Dystrophy

Background: Congenital myotonic dystrophy (CDM) is the most severe form of myotonic dystrophy type 1 (DM1) usually manifesting at birth. CDM similar to DM1, is an autosomal dominant neuromuscular disorder that is characterised by multisystem involvement and progressive nature.

Objective: To study the demographic and clinical characteristics of CDM in UK.

Methods: CureDM is a UK registered charity that aims to support patients and families affected by congenital myotonic dystrophy type 1 and raise awareness for this condition.

An anonymised online questionnaire was sent to the community CureDM supports and to the UK DM1 community through the UK DM1 patient registry. The questionnaire was answered by the patients themselves or by their carers.

Results: 101 Congenital Myotonic Dystrophy type 1 patients answered an online anonymised questionnaire across the UK. Most of the patients have documented their age, sex and city that they currently live in, the age of onset of DM1 and age of diagnosis, CTG repeats at diagnosis, type of inheritance, current symptoms.

Conclusion: The results from this survey will help in the planning, design and recruitment of clinical trials that are involving patients with congenital onset of DM1.