Spinal muscular atrophy

In modern society, many people have a strong awareness of eugenics and a strong desire to have a healthy baby. When preparing for pregnancy, I started taking a variety of beneficial tablets such as folic acid and multivitamins. After becoming pregnant, you will be more careful, and regular prenatal check-ups become a routine during pregnancy. Because of the slightest negligence, various genetic diseases will inadvertently invade people's lives.

Spinal muscular atrophy, as a genetic disease, has also received social attention in recent years. This disease not only destroys the life of the newborn, but also causes huge economic and mental burden to the family. However, it is gratifying that this disease can be monitored and detected through modern high-tech means.

Spinal muscular atrophy

1 Overview

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease; its pathological changes are degeneration of the anterior horn cells of the spinal cord; clinical manifestations are progressive, symmetrical, flaccid paralysis and muscular atrophy mainly of the proximal limbs; intellectual development is normal, without sensory impairment, and the incidence rate in the population is 1/6000 to 1/10000.

2 Clinical manifestations

The disease can be divided into three types according to clinical manifestations and onset time:

SMA type I (severe infantile type): Onset within 6 months of birth; severe cases have obvious symptoms at birth, with weakness in the limbs, difficulty feeding, and difficulty breathing; the child is never able to sit independently, has a poor prognosis, and dies before the age of 2.

SMA type II (delayed infantile type): onset occurs 6 to 18 months after birth; in infancy, sucking and swallowing functions are normal, without breathing difficulties; can sit alone, but can never walk independently; can survive to 10 to 20 years old, and most die from respiratory muscle paralysis.

SMA type III (juvenile type): onset occurs 18 months after birth; infancy is normal, slowly worsening generalized muscle weakness occurs between 5 and 15 years old, with proximal limbs being more severe; the child is able to walk independently for a certain period of time and can survive into middle age, but loses the ability to stand independently after 30 years of age and most die from respiratory muscle paralysis or systemic failure.

Spinal muscular atrophy is very harmful. It not only causes harm to individuals, but also poses a major burden on families and society. Therefore, in order to avoid this harm, a family must be responsible for the children, family and society and do regular prenatal examinations.