Glossary

Here you should find an explanation of selected words or phrases that have been used in this website.


Arrhythmia: This term describes any condition in which the heart does not beat at its normal rhythm.

Autosomal inheritance: 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. 

 

Bioinformatics: Is a field within biology that involves using computer software to develop methods for storing, organising and analysing biological data.


Biomarker: 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.


Cardiac screening: Procedures and tests that are carried out to check everything that your heart is working properly before any problems occur.

 

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.


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.

 

DMPK: 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.  


Dominant inheritance: 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.


Exercise therapy: The use of exercise to help relieve the symptoms of disease.


Gene: 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.


Genotype: The genetic definition of a disease, the changes that can only be seen at a molecular level and not externally.

 

Heart Block: This is where the electrical impulses that normally flow between different areas of the heart to control its beat are blocked causing the heart to beat slower. This occurs in different severities known as; 1st degree, 2nd degree and 3rd degree.


Magnetic resonance Imaging: Is a non-invasive procedure used to capture images of internal structures within the body. It uses powerful magnets and radio waves to construct these images.


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


Myocardial fibrosis: The process that is thought to cause heart block in myotonic dystrophy patients. Heart tissue becomes hard or scarred and heart muscle cells can no longer contract properly, preventing the heart from beating normally.


Myocyte: A muscle cell. 


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.


Phenotype: The observed symptoms of a disease, what is seen on the outside.


Prognosis: Is the word used to describe the predicted course of a disease.


Psychotherapy: Describes types of therapy that involve psychological techniques.


Quality of life: The term researchers and doctors use to describe how a person feels about their life. If they are happy and able to do all of things they would like, they would normally have a good quality of life.


Triplet repeat: DNA that makes up our genes is formed from units called bases. A triplet repeat is when a specific three bases are repeated multiple times. e.g. ABCABCABCABCABCABC would be a triple repeat of ABC.