Calpain 3

A calcium activated enzyme which is lacking or deficient in individuals with limb girdle muscular dystrophy type 2A.

Carbohydrate

Molecules which store energy, such as sugars and starches and which can be broken down to release energy.

Cardiac

Related to the heart.

Carrier

An individual with one normal and one abnormal copy of a pair of genes which cause a genetic disorder. A carrier of a gene for a recessive disorder will usually remain unaffected throughout his or her life but may pass the faulty gene on to offspring.


Carrier testing

Genetic testing to find out whether a person with no symptoms of a condition ‘carries’ a copy of a faulty gene which could be passed on to offspring.

Cell

The basic structural unit of all living organisms. The nucleus of a cell contains DNA, which is arranged into chromosomes and carries the genes we inherit.

Cell signalling

The ‘communication’, via chemical signals, between and within cells of an organism. This signalling ‘tells’ other cells to grow, change or produce proteins at specific times.


Cell therapy

The injection of healthy or modified cells into the body to replace damaged cells. Cell therapy includes the use of stem cells, myoblast transfer and the modification of autologous cells.


Central nervous system

The brain and spinal cord.

Charcot-Marie-Tooth disease

See Hereditary Sensory and Motor Neuropathies.

Chorionic villus sampling(also known as CVS)

The removal of chorionic villi for prenatal testing.
Chorionic villi are cells on the wall of the womb which form the early placenta (afterbirth) and have the same genetic make-up as the unborn baby. These cells can be tested to detect certain abnormalities.


Chromosomes

Cylindrical-shaped bundles in the cell nucleus, made of a very long thin strand of DNA coiled upon itself many times. Humans have 46 chromosomes (23 pairs) in most cells of their bodies. The sex cells (the unfertilised egg and sperm) contain 23 unpaired chromosomes each. Fertilisation of a 23-chromosome egg by a 23-chromosome sperm produces a new 46-chromosome cell, which grows into an individual. One of a chromosome pair is inherited from each parent. The genes we inherit are located on the chromosomes.

Congenital

Present at birth, or soon afterwards.

Congenital muscular dystrophy

A group of genetic conditions which share a common muscle pathology but which present with different clinical symptoms and are caused by mutations in different genes.

Contractures

A shortening of the muscle or tendon which prevents the joint from moving freely.

Creatine kinase

A type of protein found in muscle. Some forms of muscular dystrophy are associated with high levels of creatine kinase, and it can be used to indicate muscle damage.