Glossary of Terms Related to SMA (or Everything You Always Thought You Should Know About Spinal Muscular Atrophy)
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.
ADL Activities of daily living (play, eating, grooming, dressing, etc.)
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.
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.
ANTERIOR HORN CELL The front part of the spinal cord.
APNEA Absence of breathing.
APNEA MONITOR A monitor that measures rate of breathing.
ASPIRATION Particles of food or liquid that enter the airway.
ATELECTASIS Complete or partial collapse of the lung.
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.
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.
DIPPNEA 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.
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
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.
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.
PARAPODUIM 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.
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.
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.