Here you should find an explanation of selected words or phrases that have been used throughout the UK FSHD Patient Registry. 


Consent: giving permission for something or agreeing it can be done.

Database: a collection of information often held on a computer.

Ethics Committee:   a group of people who look carefully at research projects to make sure they are properly carried out and will not cause harm to anyone who takes part.


Genetic Test:  the examination of a person’s genetic material to see if there are any mutations (or problems) that may cause a specific disorder.

Mutation:  A permanent change in the DNA code that makes up a gene. Mutations can be passed on to children from their parents.


Quality of life:  The term researchers and doctors use to describe how a person feels about their life, often involves looking at relationships

Research companies:   a business that pays for investigation of a particular subject they could be for example, pharmaceutical companies.

Retinal vascular disease:   A condition that affects the blood vessels in the eye, they can lead to loss of vision.

Scapular Fixation (scapulothoracic fusion): A surgical procedure to fix the shoulder blade (scapular) to the ribcage to prevent scapular “winging”.