Glossary of Terms

A condition causing droppy eyelids

Used to assess how well one's lungs function by measuring how much air one can inhale, how much air one can exhale and how quickly one can exhale.

A physician trained to specialize in lung diseases. These diseases include breathing problems in muscle disease, asthma and emphysema. A pulmonologist may not be familiar with how best to diagnose and treat an individual with CMD is having breathing problems.

A device that measures oxygen saturation of the blood

A device that measures oxygen saturation of the blood.

The use of PCR to determine the amount of DNA or RNA in a sample; commonly used to detect deletion and duplication mutations (see PCR)

A redox (or oxidation-reduction) reaction is a type of chemical reaction in which the oxidation states of atoms are changed. Redox reactions are characterized by the actual or formal transfer of electrons between chemical species, most often with one species undergoing oxidation while another species undergoes reduction.

A sugar alcohol formed by the reduction of ribose which is a component of the nucleosides and nucleotides that constitute RNA.

Ribonucleic acid, a nucleic acid present in all living cells. Its principal role is to act as a messenger carrying instructions from DNA for controlling the synthesis of proteins, although in some viruses RNA rather than DNA carries the genetic information.

A CMD Subtype that results from gene defects in the RYR1 (Ryanodine receptor 1) gene affecting a protein that manages a calcium release channel during muscle contraction.

The sarcoplasmic reticulum is a complex network of specialized smooth endoplasmic reticulum that is important in transmitting the electrical impulse as well as in the storage of calcium ions.

An abnormal curvature of the spine that makes the spine look like a “C” or “S” shape

A CMD Subtype that results from gene defects in the SELENON gene (previously known as SEPN1) affecting production of the protein selenonprotein N, involved in the process of oxidation-reduction and calium homeostasis (balance).

The frequency with which a test yields a positive result when the individual being tested is actually affected and/or has the gene mutation in question.

A CMD Subtype that results from gene defects in the SELENON gene (previously known as SEPN1) affecting production of the protein selenonprotein N, involved in the process of oxidation-reduction and calium homeostasis (balance).