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Glossary of Terms Related to SMA
(or Everything You Always Thought You Should Know About Spinal Muscular Atrophy)


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. 

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.

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.


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.


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.


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.

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

X-LINKED  Girls are carriers but only boys are affected.


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