Newborn Screening for Spinal Muscular Atrophy - Cure SMA (2022)

Newborn Screening for SMASarah McCall2022-07-07T15:59:42-05:00

Evidence shows that early diagnosis through newborn screening and early intervention with available treatments lead to better outcomes. This is especially true with SMA, where early detection and timely administration of therapies can prevent the rapid and irreversible loss of motor function caused by the disease.

What is Newborn Screening?

According to the Centers for Disease Control and Prevention (CDC), newborn screening identifies conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability, and enable children to reach their full potential. Each year, millions of babies in the U.S. are routinely screened—using a few drops of blood from the newborn’s heel—for certain genetic, endocrine, and metabolic disorders. They are also tested for hearing loss and critical congenital heart defects (CCHDs) prior to discharge from a hospital or birthing center.

In July 2018, the federal government added spinal muscular atrophy (SMA) to the Recommended Uniform Screening Panel (RUSP)—the list of suggested conditions that states should screen for within their statewide universal newborn screening programs. Since then, Cure SMA and its advocates have made tremendous progress in helping to educate and encourage adoption on the state level.

Frequently Asked Questions


Available Resources


Status for SMA Screening

(Video) CURE SMA and Spinal Muscular Atrophy (SMA) Newborn Screening NBSTRN Pilot Webinar September 3, 2020


Newborn Screening Registry


Contact Clinical Care Team


Frequently Asked Question by the Community

What is SMA?

SMA affects the nerves in the spinal cord that send signals to the muscles to tell them how to work. When these nerves don’t work, muscles can’t do their job and become very weak. People with SMA may have difficulty walking, eating, and breathing because of muscle weakness. The condition is serious and can lead to early death. But research shows that early diagnosis and early treatment can help.

What are newborn screening tests?

When a baby is born, blood is taken to test for conditions that could affect the child’s health. If someone receives a positive result for SMA, the baby likely has SMA. The good news is that there are ways to treat SMA. A baby is tested at birth because it’s important to start treatment early. Though the baby may be healthy now, infants with SMA have a missing or faulty gene that can cause serious health problems later if not treated. A healthcare provider’s early determination about treatment offers the best chance that a baby will stay as healthy as possible.

How is an SMA diagnosis confirmed?

The results of a newborn screening test show that a baby most likely has SMA. A doctor will order more tests to confirm the diagnosis. Additional tests may also provide information that helps predict how serious a case of SMA each child has.

When will visible signs of SMA present in a child?

Signs that a child has SMA will depend on the type of SMA the baby has. Most cases of SMA are Type 1, which is the most serious. These symptoms appear within the first 6 months after birth. In some cases, Types 2 and 3, symptoms may not appear until later. Depending on how serious a child’s condition is, the best chance to prevent dangerous muscle weakness in the child is to get treatment early.

(Video) The Importance of SMA Newborn Screening

How does a child even get SMA?

SMA is caused by a missing orfaulty gene, known as the SMN1gene. Babies usually receive two copies of this gene—one from the mother and one from the father. A person with only one functioningSMN1gene is deemed to be healthy, so parents may pass down a missing or faultySMN1copy without knowing it. A baby born with SMA has received a missing or faultySMN1 gene copy from both parents.

What are the treatments for SMA?

Currently, there are multiple FDA-approved treatments for SMA.Evrysdiis a treatment developed by Genentech, a member of the Roche Group, and approved for the treatment of SMA in adults and children aged 2 months or older.Spinraza, a treatment developed by Biogen and Ionis, is approved to treat all types of SMA in all ages.Zolgensmais a treatment developed by Novartis Gene Therapies to also treat all types of SMA in patients who are under 2 years of age. In addition to these approved treatments, several other treatments are being tested inclinical trials. If you are managing a new SMA diagnosis, make an appointment with your healthcare provider to discuss the best approach to treatment.

What should be done after receiving an SMA diagnosis from newborn screening?

Take the following actions right away after receiving an SMA diagnosis from newborn screening:

  • Contact the baby’s doctor or other healthcare provider and share these test results, if they have not been shared already.
  • Ask the healthcare provider for a referral to a specialist, who will order more tests to confirm whether the baby has SMA. Often, though not always, the referral will be to a pediatric neurologist, a doctor who specializes in nerve diseases in children.
  • Get more information to share with the baby’s healthcare provider and other caregivers. The more you know, the quicker decisions can be made.

Newborn Screening for Spinal Muscular Atrophy - Cure SMA (1)

The figure above shows the chances that a healthy mother and father who are SMA carriers—each with one working SMN1 gene and one missing or faulty SMN1 gene—will have a child with SMA. In each pregnancy, the chance of these parents having a child with SMA is 1 in 4, or 25%.

(Video) Grace Grutter on SMA Newborn Screening

Newborn Screening Resources

We know this information may come as a surprise. We’re here to help. Cure SMA is nonprofit advocacy group that focuses specifically on SMA. You can find numerous resources for newly diagnosed families, and you can always contact us for information, guidance, or support. The below booklets offer a foundation for understanding SMA if you are a parent, patient, or healthcare provider learning about SMA for the first time.

For Families In English



Guide for Healthcare Providers: What You Need to Know and Do About an SMA Diagnosis

for healthcare providers In English


para médicos en espanol

Newborn Screening for Spinal Muscular Atrophy - Cure SMA (2)

To access and download all of our Cure SMA Care Series Booklets, click the button below. These booklets discuss topics from genetics of SMA to nutrition, breathing basics, musculoskeletal system, mental health, and much more! We currently offer our “Understanding SMA” booklet in nine languages and will be continuing to expand our translated collection.

Click here for more booklets


The status of newborn screening for SMA across the U.S. is shown in the map below—with 47 states screening for SMA today. Within three years of SMA being added to the federally recommended list of diseases to screen for at birth, Cure SMA and its advocates have ensured that, as of today, 97 percent of babies born in the U.S. are now screened for SMA at birth. To see our newborn screening state-specific fact sheets, please visit the Advocacy Page.

Newborn Screening for Spinal Muscular Atrophy - Cure SMA (3)

(Video) RUSP Anniversary Video - Cure SMA

Download a PDF of the abovenewborn screening state program map, as of July 1, 2022.

Download State of Newborn Screening for SMA Report

Newborn Screening for Spinal Muscular Atrophy - Cure SMA (4)

The Cure SMA Newborn Screening Registry (NBSR)

The Newborn Screening Registry (NBSR) is an online registry established to help the SMA community (e.g., individuals with SMA, families, clinicians, and researchers) learn more about SMA, better manage symptoms over time, and develop new treatments. We invite you to participate by clicking the links to the left and follow the instructions to provide Cure SMA with information about your child.

The NBSR is a Cure SMA program. Cure SMA is the sole guardian of NBSR and its material. NBSR information can be used to improve clinical care and to support new therapy development. Registries in other diseases also have a long history of success in moving research and clinical care forward.

Access the Newborn Screening Registry portal to receive additional information or to register your child. If you are a healthcare provider, you can also register your patient.

FAQs

Is there a cure coming soon for SMA? ›

It's not currently possible to cure spinal muscular atrophy (SMA), but research is ongoing to find new treatments. Treatment and support is available to manage the symptoms and help people with the condition have the best possible quality of life.

How accurate is SMA screening? ›

Carrier testing is available through a simple blood test. The test can detect the most common mutation that is associated with SMA and will detect approximately 90 percent of carriers. A negative carrier test will greatly reduce the likelihood of having a child affected with this condition.

Can SMA is fully cured? ›

There is no cure for SMA. Treatment consists of managing the symptoms and preventing complications. The U.S. Food and Drug Administration has approved the drug nusinersen (Spinraza ™) to treat children and adults with spinal muscular atrophy.

Does SMA show up in genetic testing? ›

Carrier Testing

A DNA test is the only way to know if a person is a carrier of the SMA gene. The DNA test is a simple procedure, done through blood or saliva testing. In the general population, this test can detect about 95% of carriers.

How successful is gene therapy for SMA? ›

Clinical trials for SMA gene therapy have shown clear efficacy in young children with SMA type 1, resulting in a decreased need for respiratory support as well as improvement in motor skills. Research trials have also shown that the earlier children receive gene therapy for SMA, the better the results.

Can Zolgensma reverse SMA? ›

No, Zolgensma doesn't cure spinal muscular atrophy (SMA). There isn't a known cure for SMA at this time. SMA is a rare condition that damages nerve cells in the brain and spinal cord. This leads to muscle weakness and trouble with activities such as breathing, speaking, swallowing, and walking.

Do babies with SMA move in the womb? ›

A baby with SMA may move very little or have trouble lifting things. Their limbs may be weak and appear floppy. As a result, they may fall behind on developmental milestones such as: making smooth movements with their arms and legs.

Are all babies tested for SMA? ›

Within three years of SMA being added to the federally recommended list of diseases to screen for at birth, Cure SMA and its advocates have ensured that, as of today, 97 percent of babies born in the U.S. are now screened for SMA at birth.

Do both parents have to carry the gene for SMA? ›

Both parents must be carriers for the baby to be at risk for SMA. If your partner has a negative test result and no family history of SMA, the chance that your baby will have SMA is less than 1%.

Who is the oldest person with SMA? ›

Steve Mikita is one of the oldest people living with SMA at 64 years old.

How many babies are born with SMA? ›

One in every 6,000 babies is born with SMA. It occurs in both males and females of all races, and can begin in infancy, childhood, or adulthood, three of which affect children.

How long do people with SMA live? ›

Infants with type 1 SMA usually die before their second birthday. Children with type 2 or type 3 SMA may live full lives depending on the severity of symptoms. People who develop SMA during adulthood (type 4) often remain active and enjoy a normal life expectancy.

How early can SMA be diagnosed? ›

Type I, sometimes called infantile onset SMA or Werdnig-Hoffmann disease. Type I begins to affect infants from birth up to 6 months of age, with most babies showing signs of the disease by 3 months. This is the most severe form of SMA. Type II begins to affect children between 7 and 18 months old.

How common is it to be a carrier of SMA? ›

Approximately 1 in 50 people is a genetic carrier for SMA. Most carriers don't know they are carriers of the SMA gene until they have a child born with SMA.

How does a baby get SMA? ›

SMA is caused by mutations in the SMN1 gene. The type and severity of the condition is also affected by the number and copies of the SMN2 gene that a baby has. To develop SMA, your baby must have two affected copies of the SMN1 gene. In most cases, babies inherit one affected copy of the gene from each parent.

How much does SMA gene therapy cost? ›

Zolgensma is a gene therapy medicine for treating spinal muscular atrophy (SMA), a serious and rare condition of the nerves that causes muscle wasting and weakness [1]. It is estimated that the drug will cost approximately €1.9 million per course of treatment [2].

What is the cost of SMA injection? ›

Roche launches spinal muscular atrophy treatment drug in India priced at around Rs 6 lakh per bottle.

Can people with SMA work? ›

Adults with SMA can have many of the same careers as other adults. Many people with SMA have very successful and fulfilling careers. Even if you have low physical mobility or other limitations, there are many suitable jobs. However, having a chronic illness like SMA can make working harder.

Is Zolgensma a permanent cure? ›

Official answer. No, Zolgensma (onasemnogene abeparvovec-xioi) is not a cure for SMA (spinal muscular atrophy). In addition, it cannot reverse any damage to motor neurons already caused by SMA before treatment. Since damage is not reversible, early treatment with Zolgensma is very important.

What is Zolgensma cost? ›

Zolgensma is a miraculous step in medical science. As it treats a rare genetic disorder, It comes for a price. Zolgensma is an expensive drug with less access to the patients as not everybody can afford to pay Rs. 18 crore for 1 dose of Zolgensma.

Who qualifies for Zolgensma? ›

Zolgensma is FDA-approved for patients with all forms and types of SMA who are under 2 years of age at the time of dosing. Zolgensma is given through an intravenous (IV) infusion that takes about an hour. It is a one-time treatment.

Is SMA a genetic disorder? ›

SMA is inherited as an autosomal recessive genetic disorder and is associated with mutations in the survivor motor neuron 1 (SMN1) gene. SMN1 is located on chromosome 5 in the long arm (q) region.

Is SMA genetic? ›

Except in the rare cases caused by mutations in the UBA1 gene, SMA is inherited in an autosomal recessive manner, meaning that the affected individual has two mutated genes, often inheriting one from each parent. Those who carry only one mutated gene are carriers of the disease without having any symptoms.

How long does SMA testing take? ›

Carriers of the abnormal gene have no symptoms of the disorder. As with most inherited disorders, the risk for being an SMA carrier varies by ethnic background2 (see table below). The screening test requires a blood sample or mouthwash and results are typically ready within 5 to 8 days.

Why is SMA increasing? ›

SMA is a genetic disorder where both the parents are unaffected carriers of a defective SMN1 gene in heterozygous condition. If their child inherits this defective gene from both the parents, he gets the disease as there is no normal gene to compensate. There are three types of SMA in children with varying severity.

What is SMA in pregnancy? ›

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem nuclei. The onset of weakness ranges from prenatal age to young adulthood.

Which states test newborns for SMA? ›

The 18 states with SMA screening programs in place are: Colorado, Connecticut, Indiana, Kansas, Kentucky, Maryland, Massachusetts, Minnesota, Missouri, Mississippi, New Hampshire, New York, Pennsylvania, Utah, Vermont, West Virginia, Wisconsin, and Wyoming.

Does SMA run in families? ›

Spinal muscular atrophy is an inherited condition. The nerve cells that service the muscles don't work properly, causing muscle weakness and wasting. A child with SMA type 1 rarely lives beyond three years of age. There is no cure for SMA, but there are some promising treatments being tested in clinical trials.

Can people with SMA walk? ›

People with SMA might not be able to walk or stand on their own, or they might lose their ability to do so later on in life. Children with type 2 SMA will have to use a wheelchair to get around. Children with type 3 SMA may be able to walk well into adulthood.

Is SMA a terminal illness? ›

Individuals with SMA don't produce survival motor neuron (SMN) protein at high enough levels. Without this protein, those nerve cells cannot properly function and eventually die, leading to debilitating and sometimes fatal muscle weakness.

How do I know if I have SMA? ›

The most common initial symptoms of SMA 4 include leg weakness and a tremor in the fingers. If left untreated, SMA 4 may lead to weakness throughout the body. While most people maintain the ability to walk, some may require the use of a wheelchair and/or assistance with activities of daily living.

Can children with SMA talk? ›

Consequently, speech development is generally absent or very limited in SMA1 patients, with most of their communication being characterized by eye movements, guttural sounds, and anarthria (type 1a); severe dysarthria (type 1b); and nasal voice and dyslalia (type 1c) [14, 15].

Is SMA a rare disease? ›

Most people have never heard of spinal muscular atrophy (SMA), a rare genetic disease that affects approximately 1 in 6,000 babies born worldwide each year. Innovative research may produce treatments for patients suffering from SMA and other rare diseases.

Can Crispr Cure SMA? ›

Gene editing technologies, such as the CRISPR‐Cas9 system, may provide yet another way to treat SMA in the future. CRISPR‐Cas9 uses an engineered enzyme to make precise modifications to DNA sequences. Laboratory experiments have shown that CRISPR‐Cas9 can correct pathogenetic mutations at the embryonic stage.

What is the life expectancy of someone with SMA? ›

The life expectancy of patients with spinal muscular atrophy (SMA) type I is generally considered to be less than 2 years. Recently, with the introduction of proactive treatments, a longer survival and an improved survival rate have been reported.

How much does SMA treatment cost? ›

In the USA, nusinersen, the first therapy for spinal muscular atrophy approved in 2016, costs $750 000 in the first year and $375 000 every following year for a patient's lifetime compared with onasemnogene abeparvovec, which costs $2.1 million for a one-off injection in five $425 000 instalments.

How much does Zolgensma cost? ›

Zolgensma – $2,125,000

Zolgensma received FDA approval in May 2019. It has remained the most expensive drug in the U.S., with a one-time cost of $2.1 million for a course of treatment.

How does Zolgensma treat SMA? ›

A one-time intravenous administration of Zolgensma results in expression of the SMN protein in a child's motor neurons, which improves muscle movement and function, and survival of a child with SMA. Dosing is determined based on the weight of the patient.

Does Zolgensma change DNA? ›

ZOLGENSMA does not change or become a part of the child's DNA.

Why is Zolgensma used? ›

Zolgensma® (onasemnogene abeparvovec-xioi) is the first gene therapy indicated to treat spinal muscular atrophy in paediatric patients. Credit: Novartis Pharmaceuticals. Zolgensma® is an AAV9-based gene therapy designed to deliver a copy of SMN1 gene encoding human SMN protein.

Can children with SMA walk? ›

Depending on the severity of symptoms, children with type 2 may have a normal life span. Type 3 is a milder form of SMA. It's also known as Kugelberg-Welander disease and resembles muscular dystrophy. While children with type 3 usually are able to walk, most have some difficulty walking.

Can people with SMA walk? ›

People with SMA might not be able to walk or stand on their own, or they might lose their ability to do so later on in life. Children with type 2 SMA will have to use a wheelchair to get around. Children with type 3 SMA may be able to walk well into adulthood.

Can a baby survive SMA? ›

In general, most babies affected by SMA type I die in early childhood. SMA type II is associated with a variable life expectancy. Some affected people live into adolescence and others into their 30s or 40s.

Why is SMA increasing? ›

What causes spinal muscular atrophy? People with SMA are either missing part of the SMN1 gene or have a changed (mutated) gene. A healthy SMN1 gene produces SMN protein. Motor neurons need this protein to survive and function properly.

Is SMA covered by insurance? ›

Most people with SMA and their families get healthcare coverage from private insurance or Medicaid. Some people with SMA may have coverage from both. This is because Medicaid may pay for costs not covered by commercial insurance.

Why is there no cure for SMA? ›

Treating SMA

Due to a mutation in the survival motor neuron gene 1 (SMN1), individuals with spinal muscular atrophy (SMA) don't produce survival motor neuron (SMN) protein at high enough levels. Without this protein, the motor neuron cells shrink and eventually die.

How is SMA caused? ›

What causes SMA? The most common form of SMA is caused by defects in both copies of the survival motor neuron 1 gene (SMN1) on chromosome 5q. This gene produces the survival motor neuron (SMN) protein which maintains the health and normal function of motor neurons.

How long does Zolgensma prolong life? ›

Zolgensma led to achievement of new milestones years after treatment – including sitting – with sustained durability in children now up to six years old and more than five years post-treatment.

How many SMA cases are there in India? ›

Spinal muscular atrophy is an inherited neuromuscular disease that kills more infants worldwide than any other genetic disorder. In India, one study put its prevalence at one in every 7,744 live births, or about 3,200 Indian babies each year. Symptoms for all four types of the condition emerge at different stages.

Videos

1. Newborn screening for spinal muscular atrophy with disease-modifying therapies
(Journal of Neurology, Neurosurgery & Psychiatry)
2. Spinal Muscular Atrophy Conference 2020: Impact of Newborn Screening HD 1080p
(Stanford CME)
3. Newborn Screening for Spinal Muscular Atrophy
(Neurology Live)
4. Newborn Screening of SMA
(The France Foundation)
5. The SMA Newborn Screening Alliance White Paper
(PerkinElmer, Inc.)
6. Learn to Spot the Warning Signs of SMA – Bright Eyes and Smiling (Video 8)
(Cure SMA)

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