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.
Frequently Asked Questions
SMA is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe. Learn more about SMA
There are four primary types of SMA: Type 1, 2, 3, and 4. The type of SMA is based on age of onset and the highest physical milestones achieved. Learn more about the types of SMA.
Often, the first sign of SMA Type 1 is loss of muscle tone in very young infants. This is called hypotonia or “floppy baby syndrome.” In SMA Types 2 and 3, an older infant or toddler may be delayed in meeting physical milestones or fail to meet these milestones entirely. Learn more about the symptoms of SMA.
SMA is diagnosed through genetic testing. Genetic testing, done via a simple blood test, is necessary because many conditions have symptoms similar to SMA. Learn more about how SMA is diagnosed.
An SMA diagnosis can be overwhelming. You may be confused, scared, frustrated, or uncertain, and your emotions may change from day-to-day or even hour-to-hour. You are not alone. You are now part of Cure SMA—a network of individuals, families, researchers, and healthcare professionals who are determined to make a difference. Learn more about newly diagnosed care packages and the other resources we offer for those dealing with a recent SMA diagnosis.
SMA is a recessive genetic disorder. This means that both parents must pass on a “faulty” gene for their child to have SMA. If two carriers have a child, that child has a 25% chance of having SMA. Learn more about the genetics of SMA.
Approximately 1 in 50 people is a genetic carrier for SMA. Carriers don’t have SMA, but they can pass the mutated gene on to their children. Genetic testing is available to determine carrier status. Carriers have a number of reproductive options, including prenatal testing and preimplantation genetic diagnosis (PGD). Learn more about being a carrier.
Our Support Team is committed to offering compassionate, respectful, unbiased support to all members of the SMA community. This includes support packages for those who are newly diagnosed and for teens and adults, information packets covering many of the issues important to people with SMA, the Annual SMA Conference, grief and loss support, information on daily life with SMA, an equipment loan pool, and more. Learn more about the support and care resources we offer.
Cure SMA provides information about a variety of medical issues associated with SMA, including breathing, nutrition, musculoskeletal difficulties, and medical equipment. This information is beneficial for individuals with SMA, their families/caregivers, and medical providers. Learn more about SMA topics with our Care Series Booklets.
Palliative means relieving or soothing symptoms without curing the underlying disease. Though palliative care is usually associated with end-of-life decisions, it is broader than that. Palliative care aims to provide comfort and to uphold quality of life: physically, psychologically, socially, emotionally, and spiritually. Learn more on SMA topics with our Care Series Booklets.
Cure SMA has 36 chapters across the U.S. These chapters provide a base of community and support for people with SMA and their families, whether sharing practical advice or simply having someone nearby who understands what you are facing. Many chapters also organize fundraising events, get-togethers, or participate in local advocacy and awareness.
Cure SMA also hosts the Annual SMA Conference. This is an invaluable resource for the entire SMA community, bringing together researchers, healthcare professionals, individuals with SMA, and families to network, learn, and collaborate. Learn more about community and local support.
Cure SMA accepts donations online, over the phone, or via mail. We’ve already invested more than $82 million in research, and your support will allow us to continue funding the discoveries that will lead to more treatments and a cure for SMA. Your gift will also support vital programs for individuals with SMA and their families. Cure SMA is a 501(c)(3). All contributions are tax-deductible. Make a donation today.
Our work would not be possible without all the dedicated supporters who raise money and awareness for Cure SMA. Each year, our community organizes and participates in fundraisers that bring together local communities and raise mission critical funds. Our Development Team will provide the logistical and fundraising support you need to make your event successful and meaningful. Get started by submitting a fundraising interest form.
Our event calendar makes it easy to find an event happening near you—whether you are looking for a Walk-n-Roll, gala or dinner event, golf tournament, endurance race team, or another unique and exciting event. Search our events here.
Our Annual SMA Conference is really two parallel events—one for individuals with SMA and their families and one for researchers and healthcare professionals. It is an invaluable resource for the entire SMA community, bringing together all these groups to network, learn, and collaborate. Traditionally held in June, the conference location changes from year-to-year. Learn more about the Annual SMA Conference.
Cure SMA has invested more than $82 million in SMA research. We currently offer funding for research projects in three areas: basic research, drug discovery, and clinical care. We also host the SMA Research & Clinical Care Meeting. This is the world’s largest conference devoted to SMA research, held in tandem with our conference for individuals with SMA and their families. This allows the full SMA community to interact with and learn from each other. When appropriate, Cure SMA also uses its connections to the SMA community to help researchers recruit for clinical trials.
Cure SMA’s commitment to the entire SMA community extends to those charged with providing care—including physicians, specialists, nurse or nurse practitioners, genetic counselors, physical or occupational therapists, nutritionists, social workers, and more. We educate healthcare professionals to enhance the quality of care and strengthen the support available to people with SMA. We work directly with clinicians, medical doctors, specialists, and skilled caregivers to ensure that patients have access to the best possible care. Our Continuing Medical Education provides a comprehensive curriculum for primary care providers about the diagnosis and care of SMA.
Glossary of Terms
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.
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.
Occurs when food or liquids accidentally enter the windpipe instead of the stomach. A potentially serious complication for people with SMA.
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.
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.
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 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.
A shortening of a muscle or joint which can limit range of motion. A common complication for individuals with SMA.
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.
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.
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 converts basic research ideas into new drug candidates so they can be tested in clinical trials.
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 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.
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.
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.
Another name for a clinical trial.
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.
Another name or way to reference SMA Type 3.
A condition in which the spine is curved into a “C” shape. A common complication for individuals with SMA.
The nerve cells in the brain and spinal cord that control voluntary and involuntary muscle movements.
The body’s system of muscles, bones, and connectors (tendons, ligaments, joints).
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).
Affecting both the nerves (neuro) and the muscles (muscular). SMA is a neuromuscular disease.
A surgical procedure used to treat gastroesophageal reflux disease (GERD). GERD is a common complication for individuals with SMA.
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.
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.
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.
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.
The branch of medicine that deals with the respiratory system. A pulmonologist is a doctor who specializes in treating respiratory issues.
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.
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.
Medical interventions to assist in or replace an individual’s normal breathing rhythm.
Another name or way to reference SMA Type 1.