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Spinal Muscular Atrophy Treatment Cost

Muscle loss and weakness are symptoms of spinal muscular atrophy (SMA). Standing, walking, controlling head motions, and, in certain situations, breathing and swallowing might be challenging for someone with SMA. SMA affects some people from birth, while others develop later in adulthood. Some types have an impact on life expectancy.

According to research, SMA affects one out of every 8,000–10,000 persons in the world.

SMA has no cure, although novel medications like nusinersen (Spinraza) and onasemnogene abeparvovec-xioi (Zolgensma) may help reduce the disease’s progression.

What is Spinal Muscular Atrophy (SMA)?

Spinal muscular atrophy (SMA) is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle).

Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease. SMA is muscular because its primary effect is on muscles, which do not receive signals from these nerve cells. Atrophy is the medical term for getting smaller, which is what generally happens to muscles when they’re not stimulated by nerve cells.

SMA is a motor neuron disease that causes the loss of nerve cells called motor neurons in the spinal cord.

The most common form of SMA (chromosome 5 SMA, also known as SMN-related SMA) has a wide range of onset, symptoms, and progression rates. Types 1 through 4 of chromosome 5-related SMA, which is commonly autosomal recessive, are categorized to account for these variances.

The age at which SMA symptoms appear generally coincides with the severity of motor function impairment: The stronger the influence on motor function, the younger the onset age. Children who show symptoms at birth or early in childhood usually have the lowest degree of functioning (type 1). SMA that develops later in life and has a milder course (types 2 and 3, and type 4 in teenagers or adults) is associated with higher levels of motor function.

What are the Symptoms of Spinal Muscular Atrophy?

The symptoms of Spinal Muscular Atrophy differ based on the type. In general, patients with SMA lose muscle control, movement, and strength as the disease progresses. Muscle loss worsens as you become older. The muscles closest to the spine and neck are the most severely affected by the condition. Some SMA patients never walk, sit, or stand. Others’ capacity to perform these acts deteriorates over time.

What Causes Spinal Muscular Atrophy?

SMA patients either lack a portion of the SMN1 gene or have an altered (mutated) gene. SMN protein is produced by a healthy SMN1 gene. This protein is required for motor neurons to survive and function properly.

Motor neurons atrophy and die in people with SMA because they do not produce enough SMN protein. As a result, the brain loses its ability to govern voluntary motions, particularly those involving the head, neck, arms, and legs.

SMN2 genes produce a tiny quantity of SMN protein in people as well. An SMN2 gene can be found in up to eight copies in a single person. Because the extra genes compensate for the missing SMN1 protein, having several copies of the SMN2 gene usually results in less severe SMA symptoms. Non-SMN gene mutations (non-chromosome 5) are rare causes of Spinal Muscular Atrophy.

How is Spinal Muscular Atrophy Diagnosed?

When parents or caregivers observe symptoms of SMA in a child, they frequently seek medical help.

A doctor will do a thorough medical examination, as well as a family history and a physical examination. They will examine the muscles for floppy or flaccidity, as well as deep tendon reflexes and tongue muscle twitching.

The following Spinal Muscular Atrophy tests may be used for diagnosis purposes:

  • Blood Tests
  • A muscle biopsy
  • During pregnancy, genetic tests such as amniocentesis or chorionic villus sampling are performed.
  • Electromyography (EMG)

EMG can be used to examine the health of muscles and the nerve cells that regulate them, known as motor neurons. The doctor can evaluate the fetus in the womb via amniocentesis or chorionic villus sample.

SMA genetic screening at birth is recommended in several jurisdictions. If the illness is detected early enough, it may be possible to cure it before symptoms arise.

 

Spinal Muscular Treatment Cost

Spinal Muscular Treatment Cost in India starts from USD 7891.

Procedure

How is Spinal Muscular Atrophy Treated?

SMA does not have a cure. Treatment options are determined by the type of SMA and its symptoms. Physical and occupational therapy, as well as assistive devices such as orthopedic braces, crutches, walkers, and wheelchairs, are beneficial to many persons with SMA.

These therapies could also be beneficial:

  1. Disease-modifying therapy
  2. Gene Replacement therapy

Medications 

Another treatment for Spinal Muscular Atrophy, DMTs can assist persons with some forms of SMA to lower the severity of their symptoms and improve their attitude.

Two medications for SMA have been authorized by the Food and Drug Administration (FDA), with more on the way.

Spinraza: 

  • This medication can be used to treat all kinds of SMA. A doctor will administer four initial doses over the course of two months, followed by a four-month maintenance dose.
  • It belongs to a class of medications known as antisense oligonucleotides (ASOs), which work by affecting RNA production to address the underlying problem.
  • Spinraza appears to delay the progression of SMA and may help with muscle weakness, but results may vary from person to person.

Zolgensma:

  • This drug is a sort of gene therapy used to treat infants under the age of two. It will be given as an infusion in a single dose by a doctor.
  • Both medications have the potential for side effects, and Zolgensma comes with a boxed warning.
  • Other treatment methods are being investigated, including gene replacement therapy and the use of stem cells to replace injured motor neurons.

Conclusion

  • SMA is a genetic disorder that, depending on the form, can affect children or adults.
  • The severity of the symptoms will influence a person’s viewpoint. Because the muscles that assist breathing are weak in infants with severe SMA, respiratory illness is a possibility. In certain instances, this condition is lethal.
  • Many persons with milder variants of SMA can expect to live as long as someone who does not have the disease, while some may require substantial medical care.
  • Although SMA cannot be prevented, medication, physical therapy, and other techniques can assist a person in living a full and active life.
  • New and experimental therapeutic approaches are showing promise for treating, preventing, or even curing SMA as researchers understand more about the disorder.
  • People seeking to start a family who have a family history of SMA should obtain genetic counseling first.

 

The Most Important Frequently Asked Questions

Q: Can you live a normal life with SMA?

A: Depending on the severity of the symptoms, children with type 2 or type 3 SMA may live complete lives. People who develop SMA in adulthood (type 4) are more likely to be active and have a normal lifespan.

Q: How long is the average lifespan of a person with spinal muscular atrophy?

A: Patients with type I spinal muscular atrophy (SMA) have a life expectancy of fewer than two years on average. Longer survival and a higher survival rate have recently been reported as a result of the introduction of proactive therapy.

Q: Is SMA always fatal?

A: The prognosis depends on the type of SMA. Without therapy, some kinds of SMA can be fatal. People with SMA may appear stable for long periods of time, but without therapy, no improvement should be expected.

Q: Does SMA run in families?

A: The SM1 gene is carried by most people in two copies, one from each parent. SMA usually occurs only when both copies of the gene have changed. There are frequently no symptoms if only one copy contains the alteration. That gene, on the other hand, might be passed down from parent to child.

Q: Can you see SMA on ultrasound?

A: Between the tenth and fourteenth weeks of your pregnancy, you can do this. Ultrasound will be used by your doctor to help remove a little bit of tissue from the placenta. Chorionic villi, which contain fetal DNA, are tiny structures found in the tissue. SMA will be evaluated on this DNA.

 

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