Glossary of Terms

A CMD Subtype that results from gene defects in the Titin gene affecting the production of the protein connection, responsible for the passive elasticity of muscle.

 

A type of neck contracture in which the neck is twisted or tilted

An opening into the trachea through the neck with insertion of a tube to facilitate breathing or secretion management.

A transmembrane protein (TP) is a type of integral membrane protein that spans the entirety of the cell membrane. Many transmembrane proteins function as gateways to permit the transport of specific substances across the membrane.

A measure taken during a DEXA scan, referring to the density of bone as compared with what is normally expected in a healthy young adult (30 yo) of the same gender; T-score is the number of units — called standard deviations — that bone density is above or below the average

A pharmaceutical formulation of the naturally occurring peptide, Angiotensin (1-7), being tested for use as a treatment in several rare disorders

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

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

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.

A device that provides breathing support or artificial respiration

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

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

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

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

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