Glossary of Terms
Click on a word/phrase below to see its definition.
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
See CO2 retention.
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
A condition causing dry, rough patches or raised bumps on the skin.
Hyperlaxity
A condition that causes joints to hyperextend or bend farther than normal.
Hypermobility
A condition that causes joints to hyperextend or bend farther than normal.
Hypertrophy
Enlarged muscles (or any other organ or tissue)
Hypoglycemia
A condition resulting from low blood sugar
Hypothyroidism
A condition resulting from underactive thyroid gland production
Hypotonic
Hypotonic or hypotonia means having less than normal tone or tension. Children with CMD are often hypotonic at, or shortly after, birth.
Hypoventilation
Breathing at an abnoramlly slow rate, resulting in an increased amount of carbon dioxide in the blood.
Hypoxemia
An abnormally low concentration of oxygen in the blood.
Immunostaining
The staining of a specific substance, such as muscle tissue, to identify and visualize the tissue
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
The passing of traits to offspring from parents or ancestors.