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SPINAL MUSCULAR ATROPHY

Spinal muscular Atrophy (SMA), a group of hereditary diseases, slowly destroys nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity such as breathing, swallowing, speaking, and walking.

At Medical City Children’s Orthopedics and Spine Specialists, our expert Spinal Muscular Atrophy Doctors are dedicated to diagnosing and treating spinal problems in children and ensuring comprehensive care tailored to each patient’s needs. With advanced techniques and a compassionate approach, our team is here to diagnose, treat and care for children suffering from Spinal Muscular Atrophy.

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Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) affects the use of muscles in babies and children. The nerve cells in the brain and spinal cord degenerate in a child with SMA. With that condition, the brain ceases communicating with the muscles that regulate movement. When that occurs, your child’s muscles weaken and shrink, making it difficult for them to manage head movement, sit independently, and even walk. As the condition worsens, patients with spinal muscular atrophy can occasionally have difficulty breathing and eating.

Complications of SMA

As SMA progresses, children may experience a range of complications beyond muscle weakness. Some children develop issues such as:

Bone fractures, hip dislocation, and scoliosis due to weakened muscles and lack of support for the skeleton.
Malnutrition and dehydration because of trouble eating and swallowing.
Chest infections, like aspiration pneumonia, which can result when food or liquid goes down the wrong way due to swallowing difficulties.
Weak lungs and breathing problems that may sometimes require the use of breathing support or ventilation.

Children with SMA are also more susceptible to metabolic acidosis, particularly during times of illness or fasting, though the reasons for this are not yet fully understood. These complications highlight the importance of ongoing care and monitoring for children living with SMA.

Although there is no cure, there are treatments that can lessen some of the symptoms and, in some circumstances, lengthen your child’s life. To combat the condition, researchers are looking for novel approaches. Remember that each kid or adult with SMA will have a unique situation. Your child’s condition has no impact on their IQ whatsoever, regardless of how severely it restricts their ability to move. They can still socialize and make new acquaintances.

QUESTIONS AND ANSWERS

What is the cause of Spinal Muscular Atrophy in my child, and is there a cure?

SMA is a genetic disorder caused by mutations in the survival motor neuron 1 (SMN1) gene. This gene is essential for the survival of motor neurons, which control voluntary muscles. The loss of motor neurons leads to muscle weakness and atrophy. Currently, there is no cure for SMA. However, ongoing research has led to the development of disease-modifying treatments that aim to slow the progression of the disease and improve quality of life.

What treatment options are available for my child with Spinal Muscular Atrophy?

There are now disease-modifying treatments approved for SMA, such as nusinersen (Spinraza) and onasemnogene abeparvovec (Zolgensma). These treatments aim to increase the production of the survival motor neuron protein. The choice of treatment depends on factors such as the child’s age, the specific type of SMA, and individual circumstances. Additionally, supportive care, including physical therapy, respiratory support, and nutritional management, plays a crucial role in optimizing the child’s well-being.

What is the expected prognosis for my child with Spinal Muscular Atrophy, and what can we do to support their development?

The prognosis for SMA varies based on the type and severity of the condition. Advances in treatment have improved outcomes for many individuals with SMA. Early intervention with disease-modifying treatments and comprehensive supportive care can significantly impact the child’s quality of life and functional abilities. Physical and occupational therapy, assistive devices, and respiratory support may be part of a multidisciplinary approach to support the child’s development and enhance their independence.

Parents should maintain open communication with their child’s healthcare team to address specific concerns, receive updated information on treatment options, and ensure that the child receives comprehensive care tailored to their needs. Regular follow-up appointments and ongoing collaboration with specialists are essential for managing the complexities of Spinal Muscular Atrophy.

When it comes to a Child’s Health, there is none better than the doctors at Medical City Children’s Orthopedics and Spine Specialists. We specialize in Children.

Spinal Muscular Atrophy Causes

SMA is a genetic condition that runs in families. If your kid has SMA, it is likely due to the presence of two faulty genes, one from each parent. The patient with the condition won’t be able to produce a certain form of protein as a result. The cells that govern muscles perish without it. If just one parent passes a defective gene to their child, they will not develop SMA but will be carriers of the condition. Your child could carry the damaged gene to their own offspring when they are adults.

Spinal Muscular Atrophy Symptoms

Spinal muscular atrophy can manifest at various ages, with a range of symptoms and degrees of severity. Doctors categorize the condition in this way based on types.

How Common Is Spinal Muscular Atrophy?

Although SMA is considered rare, it’s actually the second most common serious hereditary disorder in infants and children, coming in just after cystic fibrosis. Researchers estimate that SMA affects between 1 in 6,000 to 1 in 11,000 live births. The condition is about twice as common in white and Asian populations as it is in Black and Hispanic populations.

When it comes to the different types of SMA:

Type 1 of the five SMA kinds is the most prevalent. Roughly 50% of SMA patients have it.
The next most prevalent are types 2 and 3.
The second-least typical SMA type is type 0. In 5% of instances,
Type 4 is the least frequent.

Understanding which type your child has can help guide treatment and expectations, but remember, each child’s experience with SMA is unique.

Depending on the type of SMA, Symptoms Might be Very Different:

This kind of SMA, which occurs while you’re still pregnant, is the rarest and most severe. Babies with this type of SMA move less while they are developing in the womb and are born with joint issues, reduced muscular tone, and weak breathing muscles. They frequently do not live as a result of respiratory issues.

Type 1

Another severe form of SMA is type 1. A child could need assistance to sit or hold up their head. They could have trouble eating and have floppy limbs and legs. The respiratory muscles is the main cause of concern. Due to respiratory issues, the majority of children with type 1 SMA do not live past the age of 2.

Type 1 SMA, also known as Werdnig-Hoffmann disease, is typically diagnosed in infants under 6 months old. Without breathing support, life expectancy is often limited, but it’s important to remember that recent advances, such as disease-modifying therapies and gene replacement treatments, have significantly improved survival rates and quality of life for many affected children. With early intervention and comprehensive care, some children with SMA type 1 are now living longer than ever before. Your healthcare team can provide the most current outlook based on your child’s specific situation.

Parents should maintain communication with the medical team, family, church, and anyone else who may assist in providing necessary emotional support.

Type 2

Children between the ages of 6 and 18 months are affected. The symptoms range from mild to severe and typically affect the legs more so than the limbs. Your toddler might be able to stand up or walk while sitting with assistance. Type 2 is also known as chronic infantile SMA.

Type 3

This type’s symptoms begin in youngsters between the ages of 2 and 17. It is the disease’s mildest variation. Most likely, your kid will be able to stand up or walk without assistance, but he or she could struggle to run, climb stairs, or get out of a chair. They could require a wheelchair later in life to get around. Type 3 is also known as juvenile SMA or Kugelberg-Welander syndrome.

Type 4

When you are an adult, this kind of SMA first manifests. Muscle twitching, weakness, or breathing issues might be symptoms you experience. Most of the time, only your upper arms and legs are impacted.

The symptoms will persist for the rest of your life, but you may continue to move and even improve with exercises that you’ll do with a physical therapist’s assistance. It’s crucial to keep in mind that this sort of SMA affects people differently in many different ways. For instance, many people have long careers in the workforce. We advise patients with type 4 to connect with people who share type 4 spinal muscular atrophy.

Can Pregnancy Cause Spinal Muscular Atrophy?

If a woman is pregnant and has a family history of the condition, prenatal diagnostics can detect whether an unborn child has SMA. The risk of miscarriage or pregnancy loss is somewhat increased by these tests. SMA prenatal testing includes:

Amniocentesis

This test is performed after the fourteenth week of pregnancy. For an amniocentesis test, an obstetrician inserts a thin needle into the abdomen to withdraw a small amount of fluid from the amniotic sac. A laboratory specialist (pathologist) examines the liquid for SMA.

Chorionic villus sampling (CVS)

In the tenth week of pregnancy, a small tissue sample is removed from the placenta by an obstetrician. A pathologist will examine the material for SMA.

Diagnosing Spinal Muscular Atrophy

Below are three methods doctors usually diagnose SMA:

Prenatal screening

To find out if their unborn child has a genetic condition, expectant parents might choose to undergo prenatal screening tests during pregnancy. Before birth, SMA may be diagnosed using two tests. Amniocentesis, the earliest and most commonly used procedure, uses a small needle to collect the fluid surrounding the baby. The DNA of the infant is present in this fluid, which can aid in the SMA diagnosis. The other test, called chorionic villus sampling, takes DNA from the placenta.

Newborn screening

Doctors collect a blood sample shortly after birth to check for a number of genetic disorders. The doctor will do additional tests to confirm the diagnosis if the screening suggests there is a chance the patient has SMA. The advantage of neonatal blood testing is that it can detect SMA before symptoms ever develop, allowing the infant to get treatment as soon as possible. In several American jurisdictions, neonatal screening is now required.

Genetic testing

Because SMA is an inherited condition, families who are concerned about passing it on can benefit from available genetic technologies. Genetic testing can determine whether you or your partner carries the gene mutation responsible for SMA. If both parents are carriers, there is a risk that their child could inherit the condition. Your doctor could suggest genetic testing using a blood sample if your child is not progressing as expected or appears to be weak. Genetic testing using a blood sample will often confirm cases of SMA.

This is where preimplantation genetic diagnosis (PGD) comes in, often used alongside in vitro fertilization (IVF). With PGD, doctors screen embryos for the SMA gene mutation before pregnancy. Only embryos without the faulty gene are selected and implanted, which significantly decreases the likelihood of having a child affected by SMA. While these approaches can’t eliminate risk entirely, they provide useful options for families wanting to plan ahead and make informed decisions.

What Questions Should I Ask My Child’s Doctor about Spinal Muscular Atrophy?

Navigating a new diagnosis can be overwhelming, but knowing which questions to ask your child’s healthcare provider can make a difference. Here are a few important areas to explore during your appointments:

Diagnosis Details: Ask which type of SMA your child has and how it may affect their day-to-day life.
Outlook and Progression: Discuss what you might expect in terms of progress and prognosis for your child’s specific SMA type.
Treatment Planning: Inquire about which disease-modifying therapies and supportive care options are recommended, as well as any clinical trials that might be available.
Side Effects and Risks: Learn about the potential benefits, risks, and side effects of treatment options like Spinraza or Zolgensma.
Family Genetics: If you have concerns about other children or family members, it’s wise to ask if genetic counseling or testing would be beneficial for your family.
Daily Management: Request guidance on the daily and long-term care your child may need, including physical therapy, nutrition, and respiratory support.
Warning Signs: Make sure you understand which symptoms of complications require prompt medical attention.

Having an open list of questions helps foster a collaborative relationship with your child’s healthcare team and ensures you feel prepared for the journey ahead.

Spinal Muscular Atrophy Treatment

Three drugs—nusinersen (Spinraza), onasemnogene abeparvovec-xioi (Zolgensma), and risdiplam (Evrysdi) have received FDA approval to treat SMA. Both are types of gene therapy that modify the SMA-related genes. Your body receives instructions from the SMN1 and SMN2 genes to create a protein that aids in regulating muscle action.

Nusinersen (Spinraza)

This treatment modulates the SMN2 gene, causing it to produce more protein. Both kids and adults with SMA can recover from it. Your child’s medical team will inject medication into the fluid around the spinal cord. Including preparation and recovery time, this can take at least 2 hours and should be done several times. After that, another dose should be given every 4 months. Studies have shown it to be effective in strengthening and slowing disease progression in about 40% of those who use it.

Onasemnogene abeparvovec-xioi (Zolgensma)

This entails changing the problematic SMN1 gene. Children less than 2 years old can utilize it. The medical staff of your child will insert a catheter—a thin tube—directly into a vein in their hand or arm. Then, they will use the tube to introduce a copy of the SMN gene into a particular collection of motor neuron cells. There will only need to be one instance of this. According to research, onasemnogene abeparvovec-xioi aided kids with SMA in achieving developmental goals, including head control and unassisted sitting, more quickly.

Risdiplam (Evrysdi)

This treatment prevents the SMN2 gene from interfering with protein production, allowing the protein to reach nerve cells when needed. One time each day, right after supper, your youngster takes it orally. By using the child’s weight, the dose is calculated. After 12 months, 41% of individuals participating in clinical studies had increased muscular function. In addition to gene therapy, your doctor may suggest some other ways to treat your condition.

Breathing:

Weak muscles prevent air from passing readily into and out of the lungs in SMA patients, particularly with types 1 and 2. Patients could require a unique mask or mouthpiece if this occurs. Children could utilize a breathing apparatus if their issues are severe.

Swallowing and Nutrition:

Babies and kids with SMA may struggle to suck and swallow when their mouth and throat muscles are weak. A child might not receive the required nutrition in that scenario and might struggle to develop. Your doctor should be advised and may advise consulting a dietitian. Some infants could require a feeding tube.

Movement:

Exercises and typical everyday activities used in physical and occupational therapy can assist in safeguarding a child’s joints and maintaining muscular strength. A therapist could advise using leg braces, a walker, or an electric wheelchair. In addition to helping with writing and sketching, specialized tools may operate computers and mobile devices.

Back Issues:

Children who develop SMA may have a curvature in their spine. In order to protect the developing spine of a child, a doctor may advise that they wear a back brace. They may undergo surgery by one of our spine surgeons to correct the issue once they have finished growing.

How to Take Care of a Child with Spinal Muscular Atrophy

A family will need lots of help to assist their child with some of the most fundamental everyday duties. Your child can maintain friendships and participate in family activities with the aid of a team of physicians, therapists, and support groups that can assist parents with his or her care.

Can SMA Be Prevented?

Because spinal muscular atrophy is a hereditary condition, it generally cannot be prevented. However, if you’re planning for a family and concerned about the risks, there are steps you can take to better understand and potentially reduce the chances of passing SMA to your child.

Carrier screening is available through genetic testing, which helps determine whether you or your partner carries the gene responsible for SMA. Meeting with a genetic counselor can help explain your risks and options if you or your partner is found to be a carrier.

For families who wish to reduce the likelihood of SMA, some may consider preimplantation genetic diagnosis (PGD) in combination with in vitro fertilization (IVF). This process allows specialists to identify embryos that do not carry the affected gene, offering an opportunity to select embryos less likely to develop SMA.

While these measures cannot “cure” or completely eliminate the risk, they can provide valuable guidance and choices for prospective parents.

How do you Find the Right Doctor to Treat your Child with Congenital Spinal Muscular Atrophy?

Parents of children with Spinal Muscular Atrophy should bring their kids to Medical City Children’s Orthopedics and Spine Specialists because:

Specialized expertise: Medical City Children’s Orthopedics and Spine Specialists has a team of highly skilled, experienced pediatric orthopedic surgeons and spine specialists. The doctors and surgeons specialize in treating children with Spinal Muscular Atrophy
Comprehensive care: Medical City Children’s Orthopedics and Spine Specialists offers a full range of diagnostic and treatment options for Spinal Muscular Atrophy. These include advanced imaging technologies, physical therapy, bracing, and surgical interventions.
Family-centered care: Medical City Children’s Orthopedics and Spine Specialists takes a family-centered approach to care. Our doctors work closely with parents and caregivers to develop individualized treatment plans for each child’s unique needs and goals.
Support services: Medical City Children’s Orthopedics and Spine Specialists offers a variety of support services for families. These include social work, child life specialists, and patient and family education resources.
State-of-the-art facilities: Medical City Children’s Orthopedics and Spine Specialists is part of a leading medical center with state-of-the-art facilities. Doctors and surgeons have the latest technologies to support the diagnosis and treatment of Spinal Muscular Atrophy

Overall, Medical City Children’s Orthopedics and Spine Specialists, with offices in Dallas, Arlington, Flower Mound, Frisco, and McKinney, TX, offers comprehensive and specialized care for children with Spinal Muscular Atrophy, with a focus on improving outcomes and quality of life for patients and their families. We invite parents of children with Spinal Muscular Atrophy to call and make an appointment to see us.

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Footnote:

Muscular Dystrophy Association: Spinal Muscular Atrophy

Call 214-556-0590 to make an appointment.

Comprehensive services for children from birth through adolescence at five convenient locations: Arlington, Dallas, Flower Mound, Frisco, and McKinney.