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Spinal muscular atrophy is a group of inherited muscle diseases that affect the spinal cord, limiting the patient’s ability to function such as walking, eating, and sometimes breathing. Learn about this disease with Tnhelearning.edu.vn through the following article.
Note: The article is for reference only and is not a substitute for medical diagnosis or treatment.
What are SMAs?
Spinal muscular atrophy (SMA) is an inherited disorder caused by a congenital defect in the SMN 1 gene. This type of disease affects the central nervous system, peripheral nervous system and muscle movement (musculoskeletal) of the patient, making it difficult for the sufferer to move, eat and even breathe.
Spinal muscular atrophy can occur at any age, from birth to adulthood. The age at onset of symptoms of spinal muscular atrophy will correlate with how much motor function is affected. The age of spinal muscular atrophy in children from birth to 6 months is the most common and dangerous.
What is SMA?
Types of muscular atrophy SMAs
There are 4 types of SMA, of which type I is the most common and dangerous, types II and III are less dangerous for children, and type IV usually causes only mild problems (mostly adults). .
| Type | Other name | Define | Gene |
| I | WHD . grade infant SMA | Onset before 6 months Can’t sit Died before age 2 | (recessive inheritance) AR, 95% loss of SMN |
| II | Delayed WHD, Openheim Disease, Chronic, Fluctuating Juvenile SMA | Can sit with help but cannot walk. Onset before 1 year of age (over 90% survival and less than 10 years survival) | AR, 95% loss of SMN 1 |
| III | KWS, Teen SMA | Walk with assistance. Divided into 2 categories: IIIa onset under 3 years of age and IIIb onset at age 3 years (benign) | AR, 80 – 90% loss of SMN 1, AD (rare) |
| IV | Adult SMA | Onset over age 30 and variable severity | Sporadic, AD AR (gene unknown) |
Symptoms of spinal muscular atrophy
The most obvious symptom of spinal muscular atrophy associated with chromosome 5 or SMN deficiency is muscle weakness and atrophy. The muscles most affected are those near the center of the body such as the thighs, buttocks, shoulders, and back. In addition, the legs will be affected more than the arms and if the muscles in the back are weakened, it will lead to the risk of scoliosis.
Symptoms such as difficulty breathing and swallowing are also complications of this disease. In addition, spinal muscular atrophy does not affect the patient’s ability to perceive and learn or build relationships around.
Symptoms of spinal muscular atrophy
In addition, there are some forms of spinal muscular atrophy unrelated to chromosome 5 or SMN deficiency. This form is relatively different in severity and duration of disease and mainly affects muscles far from the center of the body.
How is spinal muscular atrophy inherited?
The patient has myelodysplastic disease due to a pupillary mutation that loses both SMN1 genes, causing a deficiency in SMN protein synthesis. Usually, a child with atrophy is caused by their parents carrying the disease gene, about 1 in 40-60 people will carry this faulty gene.
When both parents carry the disease gene:
- There is a 25% chance that the baby has inherited SMA;
- 50% chance that the baby will carry the disease gene but will not have SMA;
- There is a 25% chance that the baby will not have SMA and will not be a carrier.
How is spinal muscular atrophy inherited?
Spinal cord atrophy is a dangerous disease and needs to be detected promptly. Parents need to go to genetic counseling to diagnose the disease before birth to have timely treatment.
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