Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases


There are 6 entries in this glossary.
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Term Definition
Deoxyribonucleic Acid (DNA)

The chemical sequence found in genes, and which allows for the transmission of inherited information from generation to generation.

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Points away from the center of the body. Distal muscles are in the limbs, opposite of proximal

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Distended abdomen

Alternate names: Swollen belly; Swelling in the abdomen; Abdominal distention.

Distended abdomen may be cause by variety of reasons, in the allied disease it is typically caused by, the enlargement of the liver and spleen, also called hepatosplenomegaly.

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DNA analysis

DNA analysis looks for particular or known mutations in the genome or genetic make up.

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Dominant Inheritance

A pattern of inheritance whereby a single gene mutation may lead to a specific genetic disease. Children of an individual affected with a dominantly inherited condition (often referred to as autosomal dominant if the gene is not located on the X or Y chromosomes) have a 50% chance to inherit the gene mutation.

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Speech that is characteristically slurred, slow, and difficult to produce (difficult to understand). The person with dysarthria may also have problems controlling the pitch, loudness, rhythm, and voice qualities of their speech. Definition from:

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