The United Kingdom National Registry for Myotonic Dystrophy
The UK National Registry for Myotonic Dystrophy
Myotonic dystrophy (dystrophia myotonica - DM) exists in two forms, usually referred to as
DM1 (type 1) and DM2 (type 2). Both conditions are genetic disorders but each affects a
different gene. DM1 is the most common adult-onset muscular dystrophy, and is thought to
affect at least 1 in 8,000 people worldwide.
The aim is to facilitate a questionnaire based research study in order to better characterise
and understand the disease in the UK. By maintaining a national registry this will help
identify potential participants eligible for clinical trials in the future.
The UK DM Patient Registry (https://www.dm-registry.org/uk/) aims to recruit any individual,
from anywhere within the United Kingdom, with a diagnosis of myotonic dystrophy who may be
interested in becoming involved in future planned clinical trials. Participants may be
referred to the registry by health care professionals, genetic testing/laboratory centres who
are aware of the registry. Alternatively, a participant may have discovered the registry via
promotional activities or by their own online searches. After completing the consent process,
participants are able to enter information on to the registry platform (note all forms are
also available offline as well). This is an ongoing database and all participants will
invited to update their information on an annual basis.
The registry is sponsored by Muscular Dystrophy UK and the Myotonic Dystrophy Support Group.
The database is divided into two main sections:
1. Mandatory items (demographic information, clinical diagnosis, genetic test result,
current best motor function and wheelchair use) and
2. Highly encouraged items (severity of muscle symptoms, cardiac status, respiratory
function, digestion, cataracts, and fatigue, ethnic origin and data on involvement with
The database is designed to be self reporting, however where specialised clinical or genetic
information is required, the neuromuscular specialist in charge of the participants care can
be invited to provide some additional information. The participant is able to select a health
care provider from a pre-populated list at registration stage, if they wish to (optional
feature). This information is included in the patient information and consent. Relevant R&D
approval has been sought.
Observational [Patient Registry]
Study Arms / Comparison Groups
Participants with Myotonic Dystrophy
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Primary Completion Date
- All patients with a confirmed Myotonic Dystrophy diagnosis (or pending diagnosis) are
eligible for inclusion. Diagnosis will be confirmed via genetic testing results
- There are no exclusion criteria for the registry