The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry
The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry
Facioscapulohumeral Dystrophy (FSHD) is the third most common form of neuromuscular dystrophy
 worldwide with an estimated prevalence of one in 20,000. FSHD is an autosomal dominant
 genetic disease and is estimated to affect up to 3,000 people in the UK.

 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 FSHD Patient Registry (https://www.fshd-registry.org/uk/) aims to recruit any
 individual, from anywhere within the United Kingdom, with a diagnosis of FSHD who may be
 interested in becoming involved in future planned clinical trials. The registry is sponsored
 by Muscular Dystrophy UK. 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 dataset is divided into two main sections:

 1. Mandatory items (Demographic information, genetic test result, clinical diagnosis, motor
 function and wheelchair use) and

 2. Highly encouraged items (Use of invasive and non-invasive ventilation, age of onset,
 retinal vascular disease, hearing loss, scapular fixation, pregnancy, family history,
 ethnic origin and other registry participation).

 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.
Inclusion Criteria:

 -  All patients with a confirmed FSHD diagnosis (or pending diagnosis) are eligible for
 inclusion. Diagnosis will be confirmed via genetic testing results

 Exclusion Criteria:

 -  There are no exclusion criteria for the registry