FAQs & Glossary
Learn more about spinal muscular atrophy (SMA) by reading our frequently asked questions and glossary of common terms. If you still have questions, email us at [email protected] or call (800) 886-1762 and we’ll be glad to help answer them.
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Frequently Asked Questions
Glossary of Terms
A
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 or has become too sick to make or communicate these decisions.
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 one in 200.
Aspiration
Occurs when food or liquids accidentally enter the windpipe instead of the stomach. A potentially serious complication for people 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.
B
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.
C
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 one 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.
D
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.
E
Expanded access
Allows individuals who are not part of a clinical trial to receive an experimental treatment. Also called “compassionate use.”
G
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.
I
Inclusion and exclusion criteria
A list of requirements for who can or cannot participate in a clinical trial. Common criteria include age, stage or type of disease, 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 ensure that they are conducted ethically, that potential benefits justify any risks, and 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.
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.
K
Kugelberg-Welander disease
Another name or way to reference SMA Type 3.
Kyphosis
A condition in which the spine is curved into a “C” shape. A common complication for individuals with SMA.
M
Motor neurons
The nerve cells in the brain and spinal cord that control voluntary and involuntary muscle movements.
Musculoskeletal
The body’s system of muscles, bones, and connectors (tendons, ligaments, joints).
N
Nasogastric (NG) tube
A feeding tube that is inserted through the nose and into the stomach.
Nasojejunal (NJ) tube
A feeding tube inserted through the nose, through the stomach, and into the jejunum (i.e., 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.
P
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 throughout 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, some participants will receive a placebo so their results can be compared with 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.
S
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 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.
T
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.
V
Ventilation
Medical interventions to assist in or replace an individual’s normal breathing rhythm.
W
Werdnig-Hoffmann disease
Another name or way to reference SMA Type 1.