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Tay-Sachs, Canavan, GM1 and Sandhoff diseases


There are 12 entries in this glossary.
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Term Definition

Abnormal enlargement of the heart.

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Carotid artery

Arteries carry oxygen-rich blood away from the heart to the head and body. There are two carotid arteries (one on each side of the neck) that supply blood to the brain. The carotid arteries can be felt on each side of the lower neck, immediately below the angle of the jaw.

The carotid arteries supply blood to the large, front part of the brain, where thinking, speech, personality and sensory and motor functions reside.



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Carrier testing

Carrier testing can determine if a person carries one of the altered genes that cause a recessive disease. DNA carrier testing establishes the presences or absences of particular mutation(s). Enzymatic testing evaluates the level of activity of an enzyme, which when absent causes disease. In some diseases the enzyme test is not sensitive enough to determine carrier status.

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Central nervous system

The central nervous system is that part of the nervous system that consists of the brain and spinal cord. The central nervous system (CNS) is one of the two major divisions of the nervous system. The other is the peripheral nervous system (PNS) which is outside the brain and spinal cord. The peripheral nervous system (PNS) connects the central nervous system (CNS) to sensory organs (such as the eye and ear), other organs of the body, muscles, blood vessels and glands. The peripheral nerves include cranial nerves, spinal nerves and roots, and what are called the autonomic nerves that are concerned specifically with the regulation of the heart muscle, the muscles in blood vessel walls, and glands.

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Cephalic vein

Cephalic vein

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Cerebrospinal fluid (CSF)

The fluid within the subarachnoid space, the central canal of the spinal cord, and the four ventricles of the brain. The fluid is formed continuously by the choroid plexus in the ventricles, and is reabsorbed into the blood by the arachnoid villi at approximately the same rate at which it is produced.

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Synonyms - CSF
Cherry-red spot
The term ‘cherry red spot’ describes the appearance of the retina when viewed by an eye specialist that is associated with metabolic neurological disorders like Tay-Sachs, Sandhoff, GM-1, Niemann-Pick, MPS and other similar disorders.
Warren Tay described the cherry red spot in Symmetrical changes in the region of the yellow spot in each eye of an infant, published in Transactions of Ophthalmology Society UK in 1881:
…in the region of the yellow spot in each eye there was a conspicuous, tolerably defined, large white patch, more or less circular in outline, and showing at its centre a brownish-red, fairly circular spot, contrasting strongly wit the white patch surrounding it.
Disappearance of the cherry-red spot is not indictiative of disease lessening.
Endoplasmic reticulum and Enzyme definitions are swapped. 
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Chorionic Villus Sampling (CVS)

A procedure used for prenatal diagnosis, which involves insertion of a needle through the abdomen into fingerlike projections of the placenta which are called chorionic villi. This procedure is also performed using ultrasound guidance, and testing can be performed with the tissue obtained. Depending upon the location of the placenta, the tissue may be obtained transvaginally rather than abdominally, by inserting a catheter through the cervix and into the uterus. CVS is usually performed at 10 to 12 weeks of pregnancy.

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Structures found in the nucleus of the cell, which are visible under a microscope and which contain genetic (inherited) information. Human cells contain 46 chromosomes, which come in pairs. There are twenty-two pairs of chromosomes which are referred to as autosomes, because they do not determine the sex of an individual. The twenty-third pair are referred to as the sex chromosomes, and are called the X and Y chromosomes. Each chromosome contains thousands of individual genes, which will in turn determine an individual's characteristics.

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Coarsening of the facial features

Short noses, flat faces and large head is often described as coarsening of facial features

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Community screenings

Organized carrier testing outreach events to educate high risk ethic groups on the importance of genetic screening and to provide convenient free or reduced cost testing.

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The study of human chromosomes.

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