Glossary

These are a few of the most common terms associated with SMA.

Advance care directive: A legal document that describes what medical procedures should or should not be given if an individual is not able to make decisions for themselves, or not able to communicate those decisions effectively.  This may be because the individual is too young to make or communicate these decisions (such as an infant with SMA type I) or has become too sick to make or communicate these decisions (such as an adult with SMA).

Amniocentesis: A type of prenatal testing that can be done as early as the 14th week of pregnancy. Amniocentesis can detect SMA in a fetus, but is associated with a risk of miscarriage that may be as high as 1 in 200.

Aspiration: Occurs when food or liquids accidentally enter the windpipe instead of the stomach. A potentially serious complication for individuals with SMA.

Autosomal recessive: The genetic profile of SMA. Autosomal means the gene resides on a chromosome other than the X or Y chromosome, meaning SMA can affect both males and females. Recessive means that both parents must pass the faulty gene on in order for the child to have SMA.

Basic research: Research that investigates the causes and biology of SMA, often revealing new and more effective ways of making drugs. Basic research is the first step in creating new drug candidates for SMA.

BiPAP: Bi-level positive airway pressure. A machine that provides breathing assistance through a mask over the nose, or nose and mouth. The machine provides higher pressure and an increased volume of air when the individual inhales, and lowers its pressure automatically when the individual exhales. 

Chorionic villus sampling (CVS): A type of prenatal testing that can be done as early as the 10th week of pregnancy. CVS can detect SMA in a fetus, but is associated with a risk of miscarriage that may be as high as 1 in 100. 

Clinical care research: Research focused on issues such as breathing or nutrition, with the goal of improving the quality of life for individuals with SMA.

Contractures: A shortening of a muscle or joint, which can limit range of motion. A common complication for individuals with SMA.

Cough Machine: A machine that assists in coughing and airway clearance.  The machine pushes air into the lungs and then sucks the air out of the lungs at preset pressures. This can help produce a more effective cough for individuals with SMA. 

CPAP: Continuous positive airway pressure. A machine that provides breathing assistance through a mask over the nose or nose and mouth. Unlike BiPAP, which adjusts pressure when the individual inhales or exhales, CPAP provides one continuous level of pressure. This may not provide adequate rest for breathing muscles therefore it is not recommended for patients with SMA.

Double-blind: A type of clinical trial in which both the participants and the researchers do not know who receives the experimental treatment and who receives the placebo. This is to prevent researcher or participant bias from affecting the results.

Drug discovery: Drug discovery converts basic research ideas into new drug candidates, so they can be tested in clinical trials. 

Expanded access: Allows individuals who are not part of a clinical trial to receive an experimental treatment. Also called “compassionate use.”

Gastrostomy (G) tube: A feeding tube that is inserted directly into the stomach through a small incision in the abdomen.

Gastrostomy-jejunostomy (GJ) tube: A feeding tube that is inserted directly into the stomach and the jejunum, which is the middle section of the small intestine, through a small incision in the abdomen.

Inclusion and exclusion criteria: A list of requirements for who can or cannot participate in a specific clinical trial. Common criteria include age, stage or type of disease, previous treatment history, and other medical conditions.

Individualized education program (IEP): A specialized plan that provides classroom and educational assistance for children with special needs.

Informed consent: Full disclosure of all procedures, requirements, and risks associated with a clinical trial. An informed consent document must be signed before an individual can join a clinical trial.

Institutional review board (IRB): An independent panel that reviews clinical trials to make sure that they are conducted ethically, that the potential benefits justify any risks, and that the rights of participants are protected.

Interdisciplinary team: A group of doctors and other medical professionals who can assess all aspects of an individual’s health. For an individual with SMA, this team may include a primary care physician; specialists such as a pulmonologist, neurologist, or orthopedist; nurses or nurse practitioners; genetic counselors; physical or occupational therapists; nutritionists or registered dieticians; and social workers or counselors.

Interventional study: Another name for a clinical trial. 

Invasive care: Medical procedures that enter or penetrate the body. Breathing support via a tube inserted into the trachea is an example of invasive care.

Investigational new drug application (IND): A temporary exception granted by the FDA, that allows a drug to be distributed for the duration of a clinical trial.

Kugelberg-Welander disease: Another name for SMA type III.

Kyphosis: A condition in which the spine is curved into a “C” shape. A common complication for individuals with SMA.

Motor neurons: The nerve cells in the brain and spinal cord that control voluntary and involuntary muscle movements. In individuals with SMA, these nerve cells do not work properly.

Musculoskeletal: The body’s system of muscles, bones, and connectors like tendons, ligaments, and joints. 

Nasogastric (NG) tube: A feeding tube that is inserted through the nose and into the stomach.

Nasojejunal (NJ) tube: A feeding tube that is inserted through the nose, through the stomach, and into the jejunum, which is the middle section of the small intestine.

Neuromuscular: Affecting both the nerves (neuro) and the muscles (muscular). SMA is a neuromuscular disease.

Nissen fundoplication: A surgical procedure used to treat gastroesophageal reflux disease (GERD). GERD is a common complication for individuals with SMA.

Non-invasive care: Medical procedures that do not enter or penetrate the body. Breathing support delivered through a mask over the nose and mouth is an example of non-invasive care.

Palliative care: A form of care that relieves or soothes symptoms without curing the underlying disease. Often incorrectly associated solely with end-of-life care, palliative care can be used through an illness to maximize the individual’s quality of life.

Placebo: An inactive liquid, pill, or powder that has no treatment value. In many clinical trials, half of the participants will receive a placebo so their results can be compared with the results of those who receive the treatment.

Pre-implantation genetic diagnosis (PGD): A type of in vitro fertilization. In PGD, the embryos are screened for genetic conditions, and only the embryos without the condition are implanted. 

Protocol: In clinical trials, a protocol is a study plan for the trial. Among other things, it covers what interventions will be given, how often they will be given, and how results will be measured.

Pulmonology: The branch of medicine that deals with the respiratory system. A pulmonologist is a doctor who specializes in treating respiratory issues.

Scoliosis: A condition in which the spine is curved into an “S” shape. A common complication for individuals with SMA.

Survival motor neuron gene 1 (SMN1): A gene that produces a protein—called survival motor neuron protein or SMN protein—that is critical to the function of the nerves that control an individual’s muscles. SMA is caused by a mutation in this gene. When SMN protein is not produced correctly, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness.

Survival motor neuron gene 2 (SMN2): Also called the SMA “back-up gene.” This gene also produces SMN protein, but the protein produced by SMN2 lacks a key building block normally produced by SMN1.  Many potential SMA treatments focus on prompting SMN2 to produce more protein, or to produce a complete protein.

Tracheotomy/tracheostomy: A procedure in which the doctor makes a small incision into the neck and inserts a breathing tube directly into the windpipe. “Tracheotomy” refers to the procedure itself. “Tracheostomy” refers to the opening made in the procedure.

Ventilation: Medical interventions to assist in or replace an individual’s normal breathing rhythm.

Werdnig-Hoffmann disease: Another name for SMA type I.

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