Spinal muscular atrophy: Warning signs in children

In this article, we will talk about the warning signs of spinal muscular atrophy in children. Let’s start!

There is nothing that worries parents more than the health of their children. The psychomotor development of children during their first two years of life is characterized by the achievement of a series of milestones such as keeping their heads up, holding objects with their hands, crawling, or taking their first steps. The maturation process of babies is not the same in all cases, however, many parents are very concerned, and it is perfectly understandable if they observe that their little one does not evolve as quickly as the rest. In most cases, this different speed in achieving engine milestones is completely normal. In other cases, the minority responds to a delay in psychomotor development as can be caused by spinal muscular atrophy, a serious genetic neuromuscular disease.

What is spinal muscular atrophy?

Parents must have rigorous information to detect these warning signs in time because they can hide neuromuscular pathologies for which, and this is good news, today we already have effective treatments.

Spinal muscular atrophy, also known by its acronym SMA, is a neuromuscular disease of genetic origin, affecting approximately 1 in 10,000 live births. It is a so-called rare disease, but, within them, it is quite prevalent. It is estimated that, in Spain, between 300 and 400 families have an affected member.

SMA, as its name suggests, is characterized by progressive atrophy of the musculature, which leads to a loss of strength and muscle tone. This pathology is caused by the absence or abnormality of the SMN1 gene, which causes in children who suffer from it a rapid and irreversible loss of motor neurons in the spinal cord, which affects functions as important as breathing, swallowing, and movement.

Types of SMA

There are, depending on their severity, several types of SMA. In type 1, the most serious, the loss of motor neurons begins even before birth and progresses rapidly to the point that babies as young as 6 months have already lost more than 95% of these cells.

SMA is an extremely serious disease that causes in babies with type 1 symptoms as varied as difficulty holding the head, difficulties in feeding and swallowing, muscle weakness, respiratory complications that require frequent hospital admissions, absence of motor reflexes, growth retardation… Parents must be able to detect these symptoms because nine out of ten children with SMA type 1 die if they do not receive treatment or need permanent mechanical ventilation before the age of 2 years.

Diagnosis and treatment of this childhood disease

Warning signs of spinal muscular atrophy in infants and children
Spinal muscular atrophy, also known by its acronym SMA, is a neuromuscular disease of genetic origin, affecting approximately 1 in 10,000 live births. It is a so-called rare disease, but, within them, it is quite prevalent. It is estimated that, in Spain, between 300 and 400 families have an affected member.

Until a few years ago, there were hardly any effective treatments for SMA. The good news, we said at the beginning of this article, is that we currently have therapies that allow us to control symptoms and even, in some cases, reverse them. Precisely because these treatments exist it is of vital importance, and what is vital is literal, to diagnose these children in time.

Pediatricians and neuro pediatricians have long been demanding the inclusion of the determination of SMA in the neonatal screening that is carried out in the United States for all newborns. There are some pilot projects, such as the one we are carrying out in our hospital, which we trust will soon become generalized throughout the National Health System.

Treatment types of spinal muscular atrophy or SMA

The determination of the SMA through the popularly known as the heel test would help us not only to save lives but also to reduce the serious disability that these children often suffer. Screening is more than justified because it is simple, inexpensive, and reliable. We could thus diagnose all possible affected children and put them on treatment so that we could stop the evolutionary course of the disease.

Many parents wonder if there are treatments for spinal muscular atrophy and the answer is yes. Boys and girls born with SMA today have much better life expectancies than those born just a decade ago.

At this time, neuro pediatricians have treatments in Spain that allow us to control the symptoms of the disease. We are also hopeful because a new treatment will be incorporated soon, based on gene therapy, which is already available in the US and which acts on the underlying cause of the disease and stops its evolution.

How is the motor development of a healthy child between 0 and 2 years old

During the first year of our children’s lives, several indicators can tell us that our baby is evolving normally. The most frequent are the following:

  • Keeps head upright when in arms.
  • Fixes the gaze and moves it following the movements of an object or a person.
  • Pick up and shake nearby objects.
  • Remains seated without support.
  • Brings food and objects to the mouth.
  • Crawls and takes his first steps with help.
  • Collaborate in imitation games.

Between 12 and 24 months of age, the motor development of the healthy child is characterized by reaching the following milestones:

  • Can stand up and take steps without support.
  • Recognize parts of your body.
  • Begins to eat with a spoon.
  • Can run, even if it is unstable.
  • Go up and downstairs.
  • He can kick a ball.

If the parents observe a deviation in this development pattern, it is advisable to go to your Primary Care pediatrician who will be able to do a more exhaustive follow-up of the baby and, where appropriate, refer him to a pediatric neurologist.

Warning signs during the first two years of life

As in many neuromuscular and degenerative diseases, the prognosis depends largely on the diagnosis. Early detection is a guarantee of a better prognosis. That is why it is so important that parents watch out for the following warning signs during their first year of life :

  • It does not support the head until four months.
  • Do not remain seated after nine months.
  • Do not pick up objects after five months.
  • It does not smile at known people or is interested in what surrounds him.
  • He never cries or protests in the absence of very close people.
  • It is equally important to learn to identify the warning signs during the second year of your baby’s life :
  • Does not walk autonomously at 18 months.
  • Does not point to the main parts of the body, does not approach or show interest in playing with other children.
  • It does not imitate familiar actions or sounds or respond to their name.

I would like to end with a message of hope. The spinal muscular atrophy, and other neuromuscular diseases, remains a serious disease, but for which there are now treatments. Early detection of symptoms can save lives and dramatically improve the quality of life of patients with SMA. And fathers and mothers play a fundamental and essential role in this work.