Glossary of Terms

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

AAC

AAC

Augmentative or Alternative Communication devices used by affected individuals whose speech and/or hearing is inhibited.

Ace Inhibitors

Ace Inhibitors

Medications that help the blood vessels (ACE=Angiotensin-Converting-Enzyme)

Active Stretch

Active Stretch

Active stretching stimulates and prepares muscles for use during exercise; which differs from passive stretch, when an external force exerts upon the limb to move it into the new position.

aDG

aDG

A CMD subtype that results from gene defects in a number of genes that affect glycosylation of a protein called alpha-dystroglycan, fundamental in skeletal muscle cells and neurons. Specific forms of aDG can include Walker Warburg Syndrome, Muscle Eye Brain Disease, Fukuyama Muscular Dystrophy, FKRP Muscular Dystrophy, LGMD 2I, LGMD 2K, LGMD 2M, LGMD 2N, LGMD 2O LGMD 2T, LGMD 2U, and LGMD 2V.

Advocate

Advocate

To work with your child’s health care providers as a team member to do the best thing for your child. This sometimes may mean speaking up when you are uncomfortable with a situation or plan of care, seeking out a second opinion, or identifying an advocate within your child’s health care team.

AFO Brace

AFO Brace

An ankle-foot orthotic; an artificial support or brace for the limbs or spine

Aggregate

Aggregate

A body of data collected from individuals associated with one another, but without distinction as an identifiable person.

AICD

AICD

Automatic implantable cardiac defribrullator

Airway clearance

Airway clearance

A technique for managing secretion in the airways and lungs.

Allele

Allele

A variant form of a given gene (found at the same place on a chromosome pair). Sometimes, different alleles can result in different observable phenotypic traits, such as different pigmentation (see genetic variant).

alpha-Dystroglycanopathy

alpha-Dystroglycanopathy

A CMD subtype that results from gene defects in a number of genes that affect glycosylation of a protein called alpha-dystroglycan, fundamental in skeletal muscle cells and neurons. Specific forms of aDG can include Walker Warburg Syndrome, Muscle Eye Brain Disease, Fukuyama Muscular Dystrophy, FKRP Muscular Dystrophy, LGMD 2I, LGMD 2K, LGMD 2M, LGMD 2N, LGMD 2O LGMD 2T, LGMD 2U, and LGMD 2V.

Alveoli

Alveoli

Small sacs within the lungs where gas exchange takes place

Ambulation

Ambulation

The ability to walk.

Ambulatory

Ambulatory

The ability to walk.

Angiotensin (1-7)

Angiotensin (1-7)

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