• Patient questionnaire [ Time Frame: 12 months ]
  Patient reported FSHD clinical diagnosis, symptoms relating to muscle weakness, motor function, ventilation, retinal vascular disease, hearing loss, scapular fixation, family history and ethnicity.
• McGill Pain Questionnaire [ Time Frame: 12 months ]
  Patient reported current pain.
• FSHD Pain Questionnaire [ Time Frame: 12 months ]
  Patient reported experience of pain.
• The Short Form Health Survey (SF-36) [ Time Frame: 12 months ]
  Patient reported quality of life.
• The Individualized Neuromuscular Quality of Life questionnaire (INQoL) [ Time Frame: 12 months ]
  Patient reported quality of life.
• Scapular fixation questionnaire [ Time Frame: 12 months ]
  Patient reported experience of scapular fixation surgery.
• Clinician questionnaire [ Time Frame: 12 months ]
  Clinician reported genetic confirmation of FSHD.

• Patient questionnaire [ Time Frame: 12 months ]
  Patient reported FSHD clinical diagnosis, symptoms relating to muscle weakness, motor function, ventilation, retinal vascular disease, hearing loss, scapular fixation, family history and ethnicity.
• McGill Pain Questionnaire [ Time Frame: 12 months ]
  Patient reported current pain.
• FSHD Pain Questionnaire [ Time Frame: 12 months ]
  Patient reported experience of pain.
• The Short Form Health Survey (SF-36) [ Time Frame: 12 months ]
  Patient reported quality of life.
• The Individualized Neuromuscular Quality of Life questionnaire (INQoL) [ Time Frame: 12 months ]
  Patient reported quality of life.
• Clinician questionnaire [ Time Frame: 12 months ]
  Clinician reported genetic confirmation of FSHD.

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.

• Morís G, Wood L, FernáNdez-Torrón R, González Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmüller H, Evangelista T. Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7.
• Ricci G, Cammish P, Siciliano G, Tupler R, Lochmuller H, Evangelista T. Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy. Muscle Nerve. 2019 Jun;59(6):711-713. doi: 10.1002/mus.26474. Epub 2019 Apr 4.
• Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmüller H. Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9.

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