What is spinal muscular atrophy (SMAs) in children?

Spinal muscular atrophy smas is an inherited condition that makes the muscles weaker and causes mobility problems. This is a serious condition and can get worse over time. The good news is that there are now treatments available to help relieve the symptoms of smas.

1. What are SMAs?

Spinal muscular atrophy (SMA) is an inherited disease affecting the central nervous system, peripheral nerves, and muscle (musculoskeletal) movement of patients.
In the human body, most of the nerve cells that control muscles are located in the spinal cord. Atrophy - Atrophy is the medical term for the shrinking, which usually happens to muscles when they are not stimulated by nerve cells. SMA is associated with the loss of motor neurons in the spinal cord and is classified as a motor neuron disease.
The age at onset of amyotrophic lateral sclerosis correlates with the degree of motor function impairment (the earlier the age of onset, the greater the impact on motor function). Spinal muscular atrophy in children presents with the lowest activity level (type 1) from birth or in infancy. Later-onset SMAs with less severe course (categories 2, 3 and in adolescents or adults, type 4) often correlate with increasing levels of motor function.

2. Types of muscular atrophy SMAs

There are several types of SMA, which begin at different ages. Some types cause more serious problems than others.
Types of SMA include:
Type 1 - develops in infants under 6 months of age and is the most severe; Type 2 - appears in babies between 7 and 18 months old and is less severe than type 1; Type 3 - develops in children after 18 months of age and is the least severe type for children; Type 4 - mainly seen in adults and usually causes only mild problems.

3. Symptoms of spinal muscular atrophy

The main symptom of spinal muscular atrophy involving chromosome 5 (SMN protein) is weakness of the voluntary muscles. The muscles most affected are those closest to the body's center of gravity, such as the shoulders, hips, thighs, and upper back. The lower extremities seem to be affected more than the upper extremities, and deep tendon reflexes are reduced.
Special complications occur if the muscles used for breathing and swallowing are affected, leading to abnormalities in these functions. If the muscles of the back weaken, scoliosis may develop.
Some forms of spinal muscular atrophy are not associated with chromosome 5 or SMN deficiency. These forms vary greatly in severity and in the muscles most affected. While most forms, such as those involving chromosome 5, affect mainly proximal muscles, others affect mainly distal muscles (those that are far from the center of the body). than).
Các cơ gần trung tâm của cơ thể thường bị ảnh hưởng nhiều hơn trong SMA hơn là các cơ xa trung tâm
Các cơ gần trung tâm của cơ thể thường bị ảnh hưởng nhiều hơn trong SMA hơn là các cơ xa trung tâm

4. The progression of spinal muscular atrophy in children

In myelodysplasia involving chromosome 5, the later the symptoms begin, and the more SMN protein is present, the milder the disease is likely to be. Whereas in the past, infants with SMA usually did not live more than 2 years, today most physicians consider SMN-associated SMA as a continuum and are reluctant to make hard predictions. refer to life expectancy or impairment based on age of onset.
Previously, infants with type 1 spinal muscular atrophy rarely survived beyond the first few years of life. But in recent years, outcomes have improved with early diagnosis and treatment. Most type 2 children survive into adulthood and can live long, fulfilling lives. Children with type 3 and type 4 spinal muscular atrophy do not affect life expectancy.

5. How is spinal muscular atrophy inherited?

In most cases, a child can only be born with muscular dystrophy if both their parents have the faulty gene that causes the condition.
About 1 in every 40 to 60 people carry the main faulty gene that causes muscular dystrophy.
If 2 carrier parents have a baby there is:
1 in 4 (25%) chance their child has SMA; 1 in 2 (50%) chance that their child will be a carrier of the faulty gene, but will not develop SMA; 1 in 4 (25%) chance that their child will not have SMA and will not be a carrier. Some rarer types of spinal muscular atrophy are inherited differently or may not be inherited at all. Talk to your doctor if you or your partner has a family history of SMA and you're worried your child may have it.

6. How is spinal muscular atrophy treated?

There is currently no cure for spinal muscular atrophy, but research is still underway to find possible new treatments.
Treatment and supportive approaches are available to manage symptoms and help people with SMA have the best quality of life possible.
Điều trị teo cơ tủy
Điều trị teo cơ tủy giúp trẻ có cuộc sống tốt nhất khi có thể

Treatment may include:
Exercises and devices to help with movement and breathing; Co eat or drink with a suitable diet; Surgery to treat spinal or joint problems. A variety of health care professionals may be involved in your care, including therapists, physical therapists, and speech therapists.
In a nutshell, spinal muscular atrophy is an inherited condition that makes the muscles weaker and causes mobility problems. This is a serious condition and can get worse over time. Therefore, it is necessary to detect early to have a supportive treatment plan for children.
With many years of experience in examining and treating diseases in children, now the Pediatrics Department at Vinmec International General Hospital has become one of the major health care centers, capable of examining , screening and treatment of many specialized diseases in children. Therefore, if the child shows signs of spinal muscular atrophy, parents can take the child to Vinmec International General Hospital for examination and receive support and advice from doctors and health experts. .

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