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Tay-Sachs, Canavan, GM1 and Sandhoff diseases


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Term Definition

An enzyme that breaks down a particular type of fatty substances, Fabry disease is characterized by its absence.

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Adeno-Associated Virus (AAV)

A member of the parvovirus family, which is composed of small viruses with a genome of a single-stranded DNA. AAVs insert genomic material at a specific site on human chromosome 19 with nearly 100% certainty, and are used to construct vectors that introduce genes into cultured cells. There is virtually no downside to AAV vectors, given the small amount of DNA they can carry and because AAV is non-pathogenic (most people are AAV carriers). In contrast to adenoviruses, AAV usually does not trigger an immune response to cells infected with it, and thus can deliver genes to sites of interest, including the brain in the context of gene therapy for diseases of muscle and eye, tissues where AAV seems to be most useful.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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Synonyms - AAV

A procedure used for prenatal diagnosis, which involves insertion of a needle through the abdomen into the amniotic fluid. This procedure is performed using ultrasound guidance, and allows the physician to obtain a small amount of amniotic fluid which can then be used for testing. Amniocentesis is usually performed between 16 and 18 weeks of pregnancy, but some centers offer "early amnio" at 14 weeks of pregnancy.

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Amniotic fluid

Amniotic fluid is the nursing and protecting contained by the amniotic sac. It is used for genetic screening of the fetus.

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Angiokeratomas are small dark red to purple raised spots. They may also have a rough scaly surface. They are composed of surface blood vessels (dilated capillaries). Often unnoticed, they may become crusty and bleed if accidentally scratched or damaged, or a harmless clot may form in the lesion (thrombosis), changing the color to dark purple or black overnight.

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An enzyme that breaks down a N-acetylaspartate acid into parts thought to be necessary for proper myelin production and maintenance, Canavan disease is characterized by its absence.

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The inhalation of either food or stomach contents into the lower airways. This can lead to aspiration pneumonia and aspiration pneumonitis. Although these two diagnoses are managed differently, they are often interchangeably referred to as aspiration pneumonia.

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Lack of coordination

An inability to coordinate voluntary muscular movements that is symptomatic of some nervous disorders.

Definition from: http://www.m-w.com/ by Merriam-Webster Inc.

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Wasting away or diminution. Muscle atrophy is wasting of muscle, decrease in muscle mass.

A nerve can also show atrophy. For example, atrophy of the optic nerve diminishes vision.

Definition from: http://www.medicinenet.com/script/main/hp.asp by MedicineNet Inc.

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Refers to genes that are not found on the sex chromosomes. Those chromosomes that are not XX and XY, i.e. sex-linked.

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Autosomal recessive

Describes a trait or disorder requiring the presence of two copies of a gene mutation at a particular locus in order to express observable phenotype; specifically refers to genes on one of the 22 pairs of autosomes (non-sex chromosomes)

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