Here you should find an explanation of selected words or phrases that have been used throughout the UK FSHD Patient Registry.
Clinical trials: A trial is a rigorously controlled test to determine the effectiveness of a treatment, therapy or device involving patients with a particular disease.
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.
Gene: Made of DNA and carries the instructions to make a specific protein. Genes usually come in pairs, one inherited from each parent. They are passed on from one generation to the next, and are the basic units of inheritance. Any alterations in genes (mutations) can cause inherited disorders such as myotonic dystrophy.
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.
Outcome measures: The tests used to decide whether a treatment being tested in a trial is having any effect. Using the right outcome measure is vital to making sure a trial can accurately assess whether or not a treatment works.
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”.