What you need to know about how dangerous spinal muscular atrophy is?

Musculoskeletal atrophy is one of the rare diseases of the musculoskeletal system. This is a very rare genetic disease. The primary mechanism is that the loss of motor neurons leads to muscle destruction, often leading to premature death. Currently, the rate of this disease in the world is about 1 in 10,000. Let's learn with SignsSymptomsList about the dangers of this disease through the following article!

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1. The concept of spinal muscular atrophy

Spinal muscular atrophy is a disease that affects infants and young children, making it difficult for people to move their muscles. When a person has spinal muscular atrophy, the nerve cells located in the brain and spinal cord are damaged. As a result, the brain stops sending information that controls muscle activity.

As a result, the patient's muscles will become weak and contract. As a result, the patient has difficulty controlling movement. Some movements are affected as much as head movement, sitting, lying down, walking. In some cases, the patient may have difficulty swallowing and breathing as the disease worsens.

What you need to know about how dangerous spinal muscular atrophy is?

Spinal muscular atrophy

There are quite a few types and grades of spinal muscular atrophy. There is currently no complete cure for the disease. However, a few supportive measures can help the condition go into remission and the person will live longer.

In fact, the symptoms of muscle atrophy vary from person to person. Besides, the disease only causes difficulty in mobility, has little or no effect on the patient's intellect and intelligence.

2. Causes of spinal muscular atrophy

Most cases of spinal muscular atrophy (SMA) occur due to a lack of a motor neuron protein. This protein is distributed throughout all cell nuclei and is important for the survival of motor neurons.

When this protein level is low, it leads to a decrease or complete loss of function of the motor cells located in the anterior horn of the spinal cord. This results in systemic atrophy of the musculoskeletal system.

This is an inherited disease that is passed on from parents to children. The disease is inherited only by probability, which is quite difficult to prevent. Parents can predict the risk of their children having this disease through testing their genome.

What you need to know about how dangerous spinal muscular atrophy is?

Spinal muscular atrophy is hereditary

In case both parents are healthy and do not carry disease-causing genes, the family can rest assured 100% because their children will not get sick. However, if one of the spouses, or both, carry the disease gene, parents should visit genetic specialists or specialists for their support during pregnancy and maintaining the baby's health.

>> See also: Polymyositis: Autoimmune disease you need to be aware of!

3. Genetic mechanism of the disease

The gene that causes spinal muscular atrophy is inherited as an autosomal recessive gene 5. Therefore, the prevalence of the disease is equal in both males and females. Carriers of a disease gene will not show the disease. However, they can have a seriously ill child if they marry a husband or wife with the same gene mutation.

In case both parents are carriers of the disease gene, the risk of having a baby with the disease in each pregnancy is:

  • 50% probability of giving birth to a healthy child carrying the disease gene (heterozygous).
  • 25% probability of giving birth to a healthy person, not carrying the disease gene.
  • 25% chance of having a child with severe muscular dystrophy (homozygous for the disease gene).

4. Signs and symptoms of the disease

Symptoms of the disease vary widely, depending on the type of spinal muscular atrophy that a person has:

Type 1

This is the most severe type of muscle atrophy. Children with this type of muscular atrophy cannot raise their heads or sit on their own without help. The child has weak arms and legs and has difficulty swallowing.

What you need to know about how dangerous spinal muscular atrophy is?

Spinal muscular atrophy type 1 is the most severe

The most important problem with type 1 spinal muscular atrophy is the weakness of the muscles that control breathing. Most children with type 1 spinal muscular atrophy do not live beyond 2 years of age because of respiratory failure.

Type 2

Type 2 muscular atrophy usually affects children between 6 and 18 months of age. Symptoms can be moderate to severe and often affect the legs. The patient can sit, stand or be accompanied by a parent's help.

What you need to know about how dangerous spinal muscular atrophy is?

Spinal muscular atrophy type 2

Type 3

Symptoms of muscular dystrophy begin when a child is between the ages of 2 and 17. This is the mildest form of the disease. Children can walk, stand and sit on their own. However, it is still difficult to run and jump. Type 3 muscular atrophy is also known as Kugelberg-Welander disease (adolescent spinal muscular atrophy).

What you need to know about how dangerous spinal muscular atrophy is?

Spinal muscular atrophy type 3

Type 4

This form of muscle atrophy usually occurs in adults. Common symptoms include muscle weakness, shortness of breath, and seizures. Usually, the disease affects only the upper extremities. The disease can be improved with physical therapy.

What you need to know about how dangerous spinal muscular atrophy is?

Spinal muscular atrophy type 4

5. Diagnosis of disease

Spinal muscular atrophy is sometimes difficult to diagnose because the symptoms are similar to many other neuromuscular diseases. To make an accurate diagnosis, specialists may ask parents some of the following questions:

  • Does the child “skip” any developmental stages such as turning over or sitting?
  • Does your child have difficulty standing or sitting on his own?
  • Is the baby having trouble breathing?
  • When did you first notice your child's symptoms?
  • Does anyone in your family have similar symptoms?

Some of the necessary tests that may be ordered to support the diagnosis include:

  • Electromyography (EMG).
  • CT scan of spinal cord, arms and legs
  • MRI of the nerves.
  • Muscle tissue biopsies.
  • CPK muscle enzyme test.
  • The SMN1 gene mutation test is used to identify mutations that delete exon 7 and exon 8 segments.

What you need to know about how dangerous spinal muscular atrophy is?

Electromyography to diagnose spinal muscular atrophy

6. Treatment

According to specialists, the drug Nusinersen can slow the progression of the disease and make the patient healthier. Your doctor will inject Nusinersen into the fluid around your spinal cord. Your child will likely need multiple injections. The treatment time for each injection is about 2 hours.

All people with spinal muscular atrophy will have at least one copy of the SMN2 gene. This gene cannot function properly to make proteins that allow cells to control muscle movement. Adjusting this gene will help the body produce more proteins or the proteins produced will work better

In addition to the SMN2 gene-editing method, scientists are working on a type of SMN1 gene-editing or replacement therapy. This method is also known as gene transfer method.

Besides gene therapy, some of the ways doctors encourage patients to manage symptoms are:

  • Breathe deeply and evenly.
  • Eat and drink soft foods that are easy to chew and swallow.
  • Exercise weak muscles (physical therapy).
  • Wear a temporary back brace, then have surgery to resolve it completely.

Recently, the FDA has just approved the drug Zolgensma (intravenous). This is the first gene therapy confirmed to treat children under two years of age with spinal muscular atrophy.

What you need to know about how dangerous spinal muscular atrophy is?

The drug Zolgensma

7. Prevention

Some of the most common prevention methods recommended by doctors and health professionals include:

  • Genetic counseling.
  • SMN gene mutation screening test for couples.
  • Prenatal diagnostic test for SMN gene mutation for the fetus of couples. Families with a history of having a child with spinal muscular atrophy.

Above are detailed information about spinal muscular atrophy that SignsSymptomsList would like to introduce to you. If you have more updated information about the diagnosis and treatment of this disease, please share it with SignsSymptomsList!

>> See also: Common sense medicine: Neck pain

Dr. Nguyen Lam Giang


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