Glossary of Terms

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

Hydrocephalus

Hydrocephalus

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.

Hypercapnea

Hypercapnea

See CO2 retention.

Hyperinsuflation

Hyperinsuflation

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.

Hyperkeratosis Pilaris

Hyperkeratosis Pilaris

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

Hyperlaxity

Hyperlaxity

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

Hypermobility

Hypermobility

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

Hypertrophy

Hypertrophy

Enlarged muscles (or any other organ or tissue)

Hypoglycemia

Hypoglycemia

A condition resulting from low blood sugar

Hypothyroidism

Hypothyroidism

A condition resulting from underactive thyroid gland production

Hypotonic

Hypotonic

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

Hypoventilation

Hypoventilation

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

Hypoxemia

Hypoxemia

An abnormally low concentration of oxygen in the blood.

Immunostaining

Immunostaining

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

Inframe Mutation

Inframe Mutation

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

Inheritance

Inheritance

The passing of traits to offspring from parents or ancestors.