Glossary of Terms

Click on a word/phrase below to see its definition.

Ullrich CMD

Ullrich CMD

A CMD Subtype that results from gene defects affecting the production of collagen type 6 protein in the extracellular matrix of the muscle.

Variant

Variant

A variation in the DNA sequence of a given gene, such as a mutation or polymorphism (see allele).

Variant of Unknown Significance (VOUS)

Variant of Unknown Significance (VOUS)

An alteration in the normal sequence of a gene, the significance of which is unclear until further study of the genotype and corresponding phenotype in a sufficiently large population; complete gene sequencing often identifies numerous (sometimes hundreds) allelic variants for a given gene.

Ventilator

Ventilator

A device that provides breathing support or artificial respiration

Voluntary

Voluntary

Something done, made, brought about, or undertaken of one's own accord or by free choice.

VOUS

VOUS

Variant of Unknown Significance; a mutation found during genetic testing whose pathogenicity is unknown. Sometimes also indicated as VUS.

VUS

VUS

Variant of Unknown Significance; a mutation found during genetic testing whose pathogenicity is unknown. Sometimes also indicated as VOUS.

Western Blot

Western Blot

A molecular genetic technique to separate proteins, by running on a gel, and identification of the proteins by immunological staining techniques

Winged Scapula

Winged Scapula

Having a prominent vertebral border usually owing to weakness of one of the muscles holding the scapula in place

X-linked

X-linked

A genetic inheritance pattern pertaining to genes on the sex chromosome "x" (females are "XX", males are "XY")

Z-Score

Z-Score

A measure taken during a DEXA scan, referring to the density of bone as compared with what is normally expected in a healthy adult of the same gender; Z-score is the number of units — called standard deviations — above or below the average