Here you should find an explanation of selected words or phrases that have been used in this website.
Is a type of genetic inheritance in which the abnormal gene is not carried in the part of DNA that determines if you are male or female. Therefore it affects both males and females equally.
Is a field within biology that involves using computer software to develop methods for storing, organising and analysing biological data.
Is a biological substance found in blood, urine or other parts of the body that can be used as an indicator of health or disease. A biomarker may be used to help clinicians diagnose a condition and monitor how it is progressing, but can also be used to see how well the body responds to a treatment.
Procedures and tests that are carried out to check everything that your heart is working properly before any problems occur.
A trial is a rigorously controlled test to determine the effectiveness of a treatment, therapy or device involving patients with a particular disease.
Cognitive Behavioural Therapy (CBT):
This therapy combines the principals of behavioural and cognitive therapies and focuses on the beliefs and attitudes of the individual. CBT looks at how these can impact the way you behave and your attitudes towards to yourself and others hoping to break negative thought cycles to improve wellbeing.
Is short for dystrophia myotonica-protein kinase, and is it is a gene. A mutation DMPK causes myotonic dystrophy. This gene helps make a protein that is important in muscle function.
A method of genetic inheritance, whereby a single abnormal copy of a gene causes disease, even though a good copy of the gene is also present. We inherit one copy of each gene from our mother and one from our father. Individuals with a dominant condition have a 50% chance of passing on the altered gene, and resulting disease, to their children.
A gene is 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.
The genetic definition of a disease, the changes that can only be seen at a molecular level and not externally.