Glossary of terms used related to SMA!

Fibrillation

 Spontaneous contractions of individual muscle fibers, producing rapid and uncoordinated activity within a muscle.
Abdomen  Stomach
Abducted  The moving of a limb away from a position near or parallel to the median access of the body.
ABG  Arterial, blood gases. Blood taken from the artery to measure oxygen absorbed in the body.
Absorption The taking in of substances (nutrients and minerals...) by cells or membranes.
Acetylcholine A type of neurotransmitter, which is a biochemical secreted at the axon ends of many neurons. It transmits nerve impulses across synapses.
Acetylcholinesterase An enzyme that catalyzes breakdown of acetylcholine.
Actin A protein in a muscle fiber that, together with myosin, is responsible for contraction and relaxation.
ADL Activities of daily living (play, eating, grooming, dressing, etc.) 
Adduction Movement of a body part toward the midline.
Aerosol  Small particles of liquid referred to as a mist treatment. 
AFO  (Ankle Foot Orthoses) Plastic brace used for standing or to keep foot at neutral to prevent contracture. Covers foot and extends to below knee. 
Albumin A plasma protein that helps regulate the osmotic concentration of blood.
Allergen A foreign substance capable of stimulating an allergic reaction.
Amino acid An organic compound of relatively small molecular size that contains an amino group (-NH2) and a carboxyl group (-COOH); the structural unit of a protein molecule.
Amniocentesis  Removal of a small amount of amniotic fluid, usually between the 15-18 week of pregnancy. Before this procedure, the doctor performs an ultrasound scan, which shows a picture of the uterus, the placenta, the amniotic fluid and the fetus. The doctor then inserts a very thin needle through the woman's abdominal skin into the uterus. About an ounce of amniotic fluid is removed. The fluid contains cells shed from the fetus which can be tested for certain genetic conditions. 
Amniotic Fluid The water surrounding a developing baby. 
Anatomical position A body posture with the body erect, the face forward, the arms at the sides with the palms facing forward, and the toes pointing straight ahead.
Anterior  Forward, front.
Anterior Horn Cell The front part of the spinal cord. 
Apnea Absence of breathing.
Apnea Monitor  A monitor that measures rate of breathing. 
Appendicular Pertaining to the arms or legs.
Articulation The joining of structures at a joint.
Aspiration  Particles of food or liquid that enter the airway. 
Atelectasis  Complete or partial collapse of the lung.
Atrophy  Shrinkage/loss. i.e.: muscular atrophy = muscle wasting. 
Autosomal inheritance  An abnormal gene that can affect either sex. 
BiPAP (Bi-Level Positive Air Pressure) Positive Inspiratory airway pressure, usually administered through a mask. Helps keep lungs open and increase oxygenation
Bronchial Drainage A therapeutic method of clapping/ vibration on the chest to relieve congestion.
Bronchodislators  Medicine that helps open the airway. 
Bronchoscopy  Surgical removal of thick tissue in the lungs.
Cannula  Tubing that provides oxygen near the nose.
Carbon Dioxide  .04% in the air we breath.
Cardiac  Heart
Carrier  A person who has both a healthy gene and an abnormal copy of a pair of genes for a genetic disorder or characteristic. The carrier does not themselves have the trait.
Carrier Testing  A test to determine what people carry an abnormal gene.
Centromere  Center of chromosome.
Chest Percussion  A therapeutic method of clapping/ vibration on the chest to relieve congestion.
Chest Physiotherapy  A therapeutic method of clapping/ vibration on the chest to relieve congestion.
Chorionic Tissue  Tissue from the developing placenta.
Chromosome  Structures made up of DNA wrapped with protein. Each cell in the body contains 23 pairs (46) of chromosomes. One chromosome in each pair comes from the mother and one from the father. (Egg and sperm cells have only 23 chromosomes each). Chromosomes are numbered 1-22, with the last pair being the sex chromosomes: XX for a female and XY for a male. Each chromosome contains over 1,000 genes. 
CNS  Central nervous system
Code Blue  Hospital call to resuscitate. 
Concave Sunken in
Contracture  Tightness and limitation in ROM (range of motion) at a joint. Occurs in the muscle in the absence of any voluntary activity or any electrical signs of muscle activity. 
Conversion  A change.
Convex  Sticking out 
CPAP  Continuous Positive Airway Pressure. Steady flow of air given through a ventilator. Prevents collapse of the airway and to increase oxygen to the body.
CPT Chest physical therapy. To foster clearance of mucus plugs and secretions 
CVS Chorionic villus sampling. Removal of a small sample of the chorionic villi, usually between the 10-12th week of pregnancy. The tissue from the placenta is made up of the Chronic villi are cells on the wall of the uterus which form the early placenta.
Deletion  The loss of genetic material from a chromosome or gene.
Dyspnea  Difficulty in breathing
Disuse atrophy Atrophy of the muscles secondary to disuse.
DNA (deoxyribonucleic acid)  The molecule that codes the genes responsible for the structure and function of living organisms. It is DNA that allows the transmission genetic information from generation to generation.
DNR  Do not resuscitate. Orders given to medical personal signed by a physician
Due Process Hearing  A procedure parents may request to resolve disputes with the school system after all other options have failed. 
Duplication  Where part of a chromosome or gene is duplicated. 
Enzyme  A protein that triggers chemical reactions. 
External Rotation Turned out
Fasciculations  Fine tremors of muscles.
fibrillation Spontaneous contractions of individual muscle fibers, producing rapid and uncoordinated activity within a muscle.
Fine Motor