Glossary of Terms

A mutation in only one allele (maternal or paternal).

The Health Insurance Portability and Accountability Act of 1996 is United States legislation that provides data privacy and security provisions for safeguarding medical information.

hiPSCs are human stem cells that can be created into a embryonic-like pluripotent state so the cells can be reprogramed and be used for therapeutic purposes.

A portable device that records the electrical activity (EKG) of the heart.

Identical mutations in both the paternal and maternal alleles.

A device with a motorized seat mechanism enabling the lifting of the body from a sitting to a standing position or to transport an immobile person to another place

hiPSCs are human stem cells that can be created into a embryonic-like pluripotent state so the cells can be reprogramed and be used for therapeutic purposes.

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