Understanding Medical Jargon

Medical jargon is often very confusing especially when a lot of information is given at a time when you are anxious to understand and remember exactly what is being said by nurses and doctors. If you are unsure just ask, even if you have asked before nurses and doctors will usually be happy to explain again they realise that it is difficult to understand especially when you are stressed.

Antibodies
Proteins produced by the blood in response to harmful bacteria in the body.

Atrophy
Wasting of the muscles

Autoimmune
The body’s own immune system that helps protect it against infection produces antibodies that attacks its own body.

Axon
Part of the neuron which carries signals to specific cells such as muscle cells.

Biopsy
A small piece of tissue is removed from the body for examination.

Cardiac
Relating to the heart

Carrier
A person who has a disease or condition but does not display symptoms of the disease or condition, but can pass it to others.  A carrier of a genetic disorder, will carry a gene for a recessive disorder, but will usually remain unaffected but may pass the faulty gene onto their children.

Carrier testing
A person can be genetically tested to find out if they have a copy of a faulty gene which they could potentially pass onto their children.

Cell
The basic structures and functional units of living organisms, sometimes called the ‘building blocks of life’.

Chromosomes
Are the housing for genes.  Chromosomes come in 23 pairs, one from each parent, for a total of 46.  Because chromosomes contain genes, a person will have two copies of every gene.  The chromosomes are in the cell’s nucleus. 

Congenital
Refers to conditions that are present at birth.

Contractures
Shortening of the muscle or tendon which prevents joint from moving freely.

Creatine Kinase
A type of protein found in muscle.  Some forms of muscular dystrophy are associated with high levels of this.

Deletion mutation
This is when genetic material is lost from a chromosome or gene.

Desmin
A protein that forms the intermediate filaments of muscle cells.

DNA (Deoxyribonucleic Acid)
An acid present in the chromosomes of all plants and animal cells by which all hereditary characteristics are passed from parent to offspring.

Dominant Inheritance
Person displays symptoms of a condition who has only one pair of affected chromosomes.

Duchenne Muscular Dystrophy
Genetic disorder usually affecting only males.  A lack of dystrophin protein results in muscle cells breaking down, causing progressive muscle weakness. 

Dysphagia
Difficulty in swallowing

Dystrophy
Any disorder arising from defective or faulty nutrition.

Muscular Dystrophy
Refers to disorders characterised by progressive muscle loss and weakness.

Enzyme
A protein molecule that causes chemical reactions of other substances, without itself being destroyed or altered on completion of the reactions.

Exon
Coding sequence in a gene.

Genes
Shorter sections of DNA which act as a code for a particular characteristic.  If a person inherits particular chromosomes, they also inherit the particular characteristics coded for by the genes on those chromosomes.

Genetic
Characteristics determined by genes.

Genetic Counselling
Information and support provided by a specialists to individuals with genetic conditions in their families.

Genetic Disorder
Conditions resulting from abnormality in the genetic makeup of an individual.  Genetic disorders can be caused by defects in one or more genes.

Genetic Testing
Tests on individual’s DNA to identify any faults which could cause a disorder.

Hypotonia
Floppiness

Immune Response
Body’s protecting response to harmful bacteria or ‘foreign’ material.

Inheritance
Characteristic passed from parent to offspring.

Manifesting Carrier
A female carrier of an x-linked condition who exhibits symptoms of the condition such as muscle weakness.

Membrane
Thin layer between the inside and outside of a cell or two compartments of a cell.

Molecule
A very small amount of matter.  Chemical combination of two or more atoms.

Muscle
An organ which by contraction produces movement.

Muscle Cell
Basic unit of a muscle fibre.

Muscle Fibre
Formed by the fusion of a group of muscle cells.

Mutation
Alteration of a gene which can be passed down the generations.

Myopathy
Muscle weakness

Myoprotein
A protein obtained from muscle tissue.

Myositis
Inflammation of a muscle

Myotonia
Increased muscular condition resulting in muscles contracting and slow to relax.

Nerves
Bundles of axons which transmits signals around the body.

Neuron
Cells that produce signals in the form of electrical impulses.

Orthoses
Devices or aids to prevent or assist movement of the spine or limbs.

Pathology
Study of the changes in tissues and organs of the body which causes disease.

Prenatal
Existing or occurring before birth.

Proband
Individual in family though which genetic condition comes to light.

Prognosis
A forecast as to the probable outcome of a disease.

Protein
Organic compounds essential to the make up of all living cells, consisting of amino acids in various combinations.

Recessive
Condition is not expressed unless carried by both members of a pair of homologous chromosomes.

Stem cells
Cells that have not yet developed into a particular function cell.  They have the potential to become any type of cell.

Stop Codon
A DNA code that stops protein production.

Talipes
A congenital deformity of the foot, which is twisted out of shape or position.

Telomere
Either end of a chromosome, has special properties one of which is preventing them from joining up with any fragment after a chromosome has been broken.

Tissue
A group of cells with a similar structure and particular function in an animal or plant.

Trail
A trail or study is designed to answer specific questions about specific diseases.

Ultrasound scan
Medical examination of an internal body part by directing ultrasound waves through it to produce an image on screen.  Commonly used to examine babies in the womb.

X Chromosome
A chromosome involved in the determination of an animal’s sex, two x chromosomes occurring in females, one x and one y chromosomes in males.

X Linked
A gene carried on the x chromosome, the corresponding trait or condition, whether dominant or recessive is always expressed in males who have only one x chromosome. Females with a gene carrying a fault are usually not affected as they have a second normal copy of the gene, they will however be a carrier of trait or condition  

Y Chromosome
A chromosome involved in the determination of an animal’s sex, occurring only in males.  Males have one x and one y chromosome, females two x chromosomes.