Glossary of terms used related to SMA!


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  The use of small muscles, i.e.: writing, coloring
FIO  Oxygen percentage artificially administered.
Flexed  Bent upward
Frog leg position Legs are abducted, externally rotated and flexed. Common position seen in hypotonic infants due to weakness and effects of gravity.
FVC  Forced Vital Capacity, measurements of a complete deep breath, exhaled.
Gait training  Ambulation/walking exercises done with a physical therapist. To promote most efficient and effective gait pattern possible. Usually used with SMA patients to teach how to use new braces or assistive devices (walker, crutches, etc.)
Gastroesophageal Reflux - GE Reflux Food/liquids swallowed into the stomach moves back up into the esophagus causing choking or increased secretions.
Gene  A tiny portion of DNA that has the "instructions" for forming a specific product, usually a protein such as an enzyme. The protein that is formed is important in the determination of an inherited trait. Genes  most often come in pairs, with one gene having been inherited from an individual's mother and the other having been inherited from the father
Gene Therapy The treatment of genetic disease by either repairing the defective gene or replacing it with a functioning gene.
Genetic Counseling Information and support provided by a specialist to individuals and their families who may be concerned about the possibility of passing on genetic condition.
Genetic Markers  Variations in DNA which lie close to the site of a disrupted gene. These markers may be used for tracking a condition in a family.
Genetics  The scientific study of inheritance and how particular qualities or traits are transmitted from parents to offspring. 
Gross Motor The use of large muscles, i.e.: catching a ball 
GT/Gastrostomy Tube Feeding tube surgically placed into the stomach.
Head Lag  Mobility for infant or child to keep head in line with trunk when being pulled by arms from lying to sitting. 
HKAFO Hip, knee, ankle foot orthoses. KAFO with hip extension, calipers, locks and pelvic band to provide higher level of bracing than KAFO can provide.
Hypotonia  Low muscle tone. Floppy, weak.
Hypoventilation Under-ventilation, when not enough air moves into and out of the lungs, and the arterial CO2 level increases
Hypoxia Low arterial blood oxygen content
IDEA  Individuals with Disabilities Education Act. The education law that governs and protects children with disabilities.
IEP  Individualized Education Program. A written education plan developed by teachers, therapists and parents to meet the individual needs of each child with disabilities.
ILS  Independent Living Skills
ILSO  Custom molded plastic trunk corset used to hold curve stable. (total contact thoracic, lumbar, sacral othoses)
Intubate  Tube inserted in the mouth/nose to provide artificial breathing. 
IPPB  Intermittent Positive Pressure Breathing. Deep breaths given by a machine to help expand the lungs. 
Ischial weight bearing LLB  Long leg brace with thigh cuff providing posterior ischial weight bearing to optimize support and ability to stand and weight bear in LLB for the weak and hypotonic
Isocentric RGO RGO without cable system. More cosmetic, less friction and more energy efficient than standard RGO. Reciprocation built into pelvic band. 
KAFO Knee, ankle, foot orthoses
Kyphosis  Skeletal deformity most common at thoracic spine. Posterior convexity of the vertebrae.
Linkage Analysis Tests which are performed on various family members to establish which is the most important information of genetic code for a particular disease.
LLB  Long leg braces
Lordosis Skeletal deformity most common at lumbar spine. Posterior concavity of the vertebrae. 
Lumbar  Lower spine
Luxation Dislocation of a joint.
Muscular Dystrophy Progressive muscle weakness and atrophy caused by deficient dystrophin protein.
Mediation  The use of a neutral person to assist the school and parents in reaching a comprise when there is a dispute.
MMT  Manual muscle test. Technique used to manually assess muscle strength of patients with weakness.
Mobile Stander Prone stander with wheels, similar to a wheelchair. Allows patient to self mobility in a standing position. 
Molded Seat  A custom seat molded to the patient.
Motor Neurons Nerves that control movement. 
Muscle Biopsy Removal of a small amount of tissue for examination. When a muscle biopsy is per formed for SMA it is usually removed from the thigh muscle.
Mutation  When a gene is changed or altered in some way.
Myopathy  Disorder of the muscle. 
Negative Pressure A natural form of breathing.
Neuropathy Disorders of the nerves.
NG/Nasogastric Tube  Feeding tube inserted from the nose to the stomach. 
Nucleus  The central structure in each cell, containing the chromosomes. 
Orthopedics Medical specialty that prevents, diagnoses, and treats diseases and abnormalities of the skeletal and muscular systems.
Orthoses  Brace
Ovlau Parapodium Parapodium on swivel caster base . 
Oxygen  21% in the air we breath
PA  Personal Assistant, one who assists with an individual's needs. 
Parapodium  Standing brace that supports up to the trunk and is used with a walker 
Pectus Excavatum When the breast bone is caved in.
PEEP  Positive End Expiration Pressure. Pressure given at the end of a mechanical breath.
Pneumonia  Fluid in the lungs.
Port-a-Lung Negative pressure ventilator. 
Positive Pressure Artificial ventilation.
Posterior Behind
Probe  Labeled piece of DNA used to detect the presence or absence of a product. 
Pronation  Palms and forearm facing down.
Prone  On stomach
Prone Stander Allows the patient to stand using front support.
Protein  Highly complex compounds that are made up of amino acids and essential in animal metabolism.
Protuberant abdomen  Large abdomen associated with respiratory movement; most of the respiratory effort is abdominal.
Protuberant  Sticking out
Pulse oximeter A machine that measures the percentage of oxygen carried by the blood.
Recessive  Inherited from both parents.
Reflexes  Involuntary movement. Response to a stimulus.
Reflux See Gastroesophageal Reflux
Related Services  Any service as may be required to assist a child with a disability, so that they may function better in regards to their education i.e.: speech, physical and occupational therapy, transportation, social work services, counseling, etc. Any service as may be required to assist a child with a disability, so that they may function better in regards to their education. i.e.: speech, physical and occupational therapy, transportation, social work services, counseling, etc.
Respirator-Ventilator Machine which provides artificial breathing
RGO  Reciprocating gait orthoses. Bilateral long leg braces with a pelvic band and thoracic extension if necessary. Hip joints are connected by a cable system to allow for a reciprocal gait pattern.
ROM  Range of motion
Sacral  Lower spine, near the tail bone.
Scoliosis  Lateral curvature of the spine.
SMO  Supramallenea orthoses. Brace that holds foot and ankle in alignment for weight bearing. Made of hard plastic. Worn inside shoe, extends to just above ankle bones 
Subluxation Partial dislocation of a joint.
Suctioning  Removal of mucus through an airway. Usually done by a suction catheter or bulb.
Supination  Palms and forearm facing upward. 
Supine    On back
Supine Stander Allows the patient to stand by supporting the back.
Telomere  Tip of chromosome.
Thoracic  Upper part of spine. 
Trachea  Wind pipe
Tremor  Mild shakiness of muscles.
Ventilate-ventilation  Mechanical breathing; artificial breathing.
Vertebra  Spine, back bone 
Girls are carriers but only boys are affected.


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