Glossary of Terms
Click on a word/phrase below to see its definition.
SERCA resides in the sarcoplasmic reticulum (SR) within myocytes. Its major function is to transport calcium from the cytosol into the sarcoplasmic reticulum.
Sip and Puff
Mouthpiece ventilation or Sip Ventilation; a straw-like device used to take supported breaths from a ventilator or BiPAP machine.
Mouthpiece ventilation or sip and puff; a straw-like device used to take supported breaths from a ventilator or BiPAP machine.
A procedure where a piece of skin is removed to diagnose an illness. It may also be called punch biopsy. A skin biopsy can be performed in an outpatient medical setting with some local anesthetic to numb the area. Physicians who specialize in genetics or dermatologists usually perform the skin biopsy
During a skin or punch biopsy, the doctor removes a small round piece of skin using a hollow instrument. Stitches are only required if a large sample is taken. To prepare for the test, tell your doctor about all the medications you are currently taking including over the counter medications. You will feel a stinging sensation when the anesthetic is injected. You may feel a little sore in that area for several days thereafter.
A condition in which pauses in breathing (an apnea episode) occur during sleep because the airway has become narrowed, blocked, or floppy.
A surgical procedure in which vertebrae are permanently fixed to correct scoliosis
Pulmonary Function Testing (PFT); used to assess how well your lungs function by measuring how much air you inhale, how much you exhale and how quickly you exhale.
A genetic mutation found in an affected individual that is not present in either parent. See also: De Novo.
Standing devices which enable individuals by facilitating their ability to stand upright at various intervals throughout the day
An undifferentiated cell capable of giving rise to indefinitely more cells of the same type, and from which certain other kinds of cells arise by differentiation.
Stem cells can be used to fix damaged cells such as muscle cells.
The incomplete or partial dislocation of a joint or organ
Lying down on one's back, facing upward
A tetramer is an oligomer formed from four monomers or subunits.
Pertaining to the chest (thorax) or the bones in the middle region of the spine
A CMD Subtype that results from gene defects in the Titin gene affecting the production of the protein connection, responsible for the passive elasticity of muscle.