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Glossary of terms used on this site

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Term Definition
Learning disability

A significantly reduced ability to understand new or complex information, to learn new skills (impaired intelligence), with a reduced ability to cope independently (impaired social functioning) and which started before adulthood, with a lasting effect on development. [Department of Health]

Liability

A concept used in disorders inherited in a multifactorial pattern to determine the likelihood of developing a particular disorder. It takes into account both genetic and environmental factors. A condition will occur if a certain liability threshold is reached.

Ligaments

Ligaments are tough bands of connective tissue (fibres that support other tissues and organs in the body). Ligaments link two bones together at a joint. They strengthen the joint and limit its movement in certain directions. In the spine, the vertebrae are held together by ligaments.

Limb-girdle Muscular Dystrophy

Limb-girdle MD has around 15 different varieties. It can affect both sexes and usually appears in early adulthood. Limb-girdle MD initially starts in the muscles around the hip girdle and the shoulder girdle, but it can also progress quite quickly to other areas.

Linkage analysis

Indirect DNA analysis. Linkage analysis uses several DNA sequence polymorphisms (normal variants) that are near or within a gene of interest, to track the inheritance of a disease-causing mutation in that gene within the family.

lipid

Cholesterol is a fatty substance known as a lipid. It is mostly made by the liver from the fatty foods we eat and is vital for the normal functioning of the body.Having an excessively high level of lipids in your blood (hyperlipidemia) can have a serious effect on your health as it increases your risk of having a heart attack or stroke.

Lipid disorders

Conditions resulting from irregular lipid metabolism.

Lipid storage condition

A group of inherited metabolic disorders in which harmful amounts of fatty materials called lipids accumulate in some of the body’s cells and tissues. People with these disorders either do not produce enough of one of the enzymes needed to metabolize lipids or they produce enzymes that do not work properly.

list of drugs

Information on drugs which individuals

Locus (loci)

The precise physical site or location of a specific gene on a chromosome.

Long QT syndrome

A condition in which there are alterations to the normal patterns of contraction of the heart. On the electrocardiogram, there are abnormalities seen that are known as a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncopes (faints), seizure, or sudden death. Individuals may have no symptoms and have no structural heart disease. LQTS can be caused by changes in one of several genes which can be passed on to family members in either an autosomal dominant or autosomal recessive pattern.

Lucentis

Lucentis is a medicine which is used in wet age-related macular degeneration.

lumbar puncture

A lumbar puncture (also known as a spinal tap) is a procedure used to take a sample of cerebrospinal fluid (CSF) from the spinal canal so that it can be tested. The spinal canal is the passageway through the back bones (vertebrae) which contains the spinal cord.

lysosomal storage disease

Lysosomal Storage diseases are a group of inherited genetic defects which result in an enzyme deficiency. The usual effect of this is to prevent the lysosome in the cells of the body from performing its natural recycling function, and various materials are inappropriately stored in the cell.

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