Leading the Fight to treatand cure Tay-Sachs, Canavan and related diseases
An enzyme that breaks down a particular type of fatty substances, Fabry disease is characterized by its absence.
An enzyme that breaks down a particular type of fatty substances, Pompe disease is characterized by its absence.
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.
Amniotic fluid is the nursing and protecting contained by the amniotic sac. It is used for genetic screening of the fetus.
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.
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.
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.
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.
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.
Refers to genes that are not found on the sex chromosomes. Those chromosomes that are not XX and XY, i.e. sex-linked.
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)
A network of blood vessels with closely spaced cells that makes it difficult for potentially toxic substances (such as anticancer drugs) to penetrate the blood vessel walls and enter the brain.
Definition from: Unified Medical Language System
A naturally occurring barrier created by the modification of brain capillaries (as by reduction in fenestration and formation of tight cell-to-cell contacts) that prevents many substances from leaving the blood and crossing the capillary walls into the brain tissues -- abbreviation BBB.
Definition from: Merriam-Webster’s Medical Dictionary http://www.m-w.com/
Abnormal enlargement of the heart.
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.
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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