Glossary of Terms

An accumulation of fluid within the cranium, especially in infancy, due to obstruction of the movement of cerebrospinal fluid, often causing enlargement of the head; water on the brain.

See CO2 retention.

A passive stretch of the chest wall through the use of a cough assist machine or bag valve mask used as an intervention to slow the rate of decline in beathing capacity.

A condition causing dry, rough patches or raised bumps on the skin.

A condition that causes joints to hyperextend or bend farther than normal.

A condition that causes joints to hyperextend or bend farther than normal.

Enlarged muscles (or any other organ or tissue)

A condition resulting from low blood sugar

A condition resulting from underactive thyroid gland production

Hypotonic or hypotonia means having less than normal tone or tension. Children with CMD are often hypotonic at, or shortly after, birth.

Breathing at an abnoramlly slow rate, resulting in an increased amount of carbon dioxide in the blood.

An abnormally low concentration of oxygen in the blood.

The staining of a specific substance, such as muscle tissue, to identify and visualize the tissue

A mutation that does not cause a shift in the triplet reading frame; such mutations can, however, lead to an abnormal protein product.

The passing of traits to offspring from parents or ancestors.