The loss of cognitive functioning which includes thinking, remembering, and reasoning which result in behavioral issues that interfere with an individual’s daily life.


Statistical characteristics of a human population (for example, age or income) to help identify markets or segments.

Demyelinating neuropathy

Refers to the loss or damage to the myelin or protective covering of the nerve tissue. This damage leads to slowed nerve impulses, causing neurological problems.

Developmental regression

When a child loses an acquired function, milestone or fails to progress beyond a prolonged plateau after a period of relatively normal development.

Distal muscles

Muscles that are farther away from the torso (forearms, calves, feet, hands).

Endoplasmic reticulum (ER)

A continuous membrane system that forms a series of flattened sacs within the cytoplasm of eukaryotic cells and serves multiple functions, but most importantly the transport of proteins through the body.


A protein responsible for speeding the rate of chemical reaction in the cell of the living organism. Enzymes support a wide range of functions in an organism, as they spark chemical reactions. Enzymes work with, or interact with, substrates (the underlying surface or substance). When reacted together, the enzyme and substrate result in a new product or molecule that then separates from the original enzyme and goes on to create new reactions in the cell.

Expanded exome sequencing panel

Through this diagnostic test performed by a geneticist, the exome — a sequence of all exons of protein coding genes in the human genome — can be captured and analyzed with the intention of identifying a disease with a genetic component.

Genetic disease

A disorder in a person’s structural and functional state that is caused by a change, or variant, in an individual’s DNA sequence. This variant may or may not be hereditary.


A molecule made up of a carbohydrate and a protein that plays an essential role in the body, particularly in the body’s immune responses.