SPINAL MUSCULAR ATROPHY

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. The severity of children with SMA will vary depending on the type of SMA affecting the child.

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.

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.

• 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. With 5% of instances,
• type 4 is the least frequent.

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

Type 0

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’ weakening 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. 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 illness.

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 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

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.

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 to safeguard a child’s joints and maintain 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.