Spinal muscular atrophy in children
In this article we will talk about spinal muscular atrophy in children and all the information related to this topic:
Spinal muscular atrophy in children
It is a rare genetic condition that leads to gradual muscle weakness and wasting throughout the body because the cells of the spinal cord and brain stem do not function properly due to a genetic defect.
Spinal muscular atrophy in children causes movement problems, gets worse over time, and is the number one genetic cause of infant mortality.
Symptoms of spinal muscular atrophy in children
Symptoms of spinal muscular atrophy in children and when they first appear to depend on the type of atrophy. Symptoms include:
- Weakness in the movement of the arms and legs.
- Movement problems, such as the inability to sit up, crawl or walk easily.
- A feeling of tremor or shaking in the muscles.
- Bone and joint problems, such as scoliosis, which is an abnormally curved spine.
- Swallowing problems.
- Breathing difficulties.
- The child is late in learning to roll over or sit.
- More frequent falls when a child becomes older than children of the same age.
- Difficulty being able to lift objects.
But the disease does not affect intelligence and does not cause learning difficulties.
Types of spinal muscular atrophy in children
There are five types of spinal muscular atrophy in children:
Type No. 0
It is the rarest and most dangerous type, and the baby has it before birth, and it causes joint or heart defects and breathing problems.
Most children affected do not live for more than 6 months after birth.
Type No. 1
Symptoms begin during the first 6 months after birth, and it is a very severe type, and the child suffers from severe difficulty in moving as he cannot sit without support, and has difficulty breathing, eating, and swallowing.
Most children affected do not live past the age of two.
Type No. 2
It is a moderately severe type, and the child can sit without the need for support, but he cannot walk alone, and symptoms begin at the age of 6-18 months.
Children of this type may live a normal life.
Type No. 3
It is the mildest type, the child can walk, but with difficulty, so some need to use a wheelchair, and symptoms appear at the age of 18 months.
Children of this type generally have a normal life expectancy.
Type No. 4
It is very rare and usually begins in puberty, causing mild impairment of movement.
Methods for diagnosing spinal muscular atrophy in children
To diagnose the disease, the doctor does the following:
- Genetic blood tests, the most common way to diagnose it, detect abnormalities in the SMN1 gene responsible for the disease.
- Electrical planning muscle by measuring the electrical activity of the muscles.
- Creatine phosphokinase (CPK) test.
- Muscle biopsy, where the doctor takes a small sample of muscle for examination under a microscope.
Treatment methods for spinal muscular atrophy in children
Although there is no cure for spinal muscular atrophy in children, there are two newly discovered treatments and some adjuvant therapies that may help relieve symptoms and improve quality of life, as follows:
1. Gene replacement injection
It is a one-time injection that replaces the malfunctioning or missing SMN1 gene with another copy that is working properly, improving the functioning of motor neurons, and can be given to children as young as two years old.
2. A drug that increases the production of missing gene proteins
It is a new treatment for spinal muscular atrophy, in which a drug is given to make the SMN2 gene similar to the SMN1 gene to produce the protein needed for muscle movement.
This medicine is given into the spinal canal, and it is given in four doses over two months, and then every 4 months thereafter.
3. Auxiliary therapies
In addition to the previous treatments, some treatments help improve the quality of life of the affected child, including the following:
- Helping breathing by practicing exercises to strengthen the lung muscles and help the child to cough, and get rid of mucus, which reduces the chance of infection with infectious diseases, and in severe cases, a mask or respirator is placed.
- Assisting the child with feeding, either by placing a feeding tube through the nose into the stomach or directly into the stomach ( gastrostomy ).
- Practicing physical therapy and occupational therapy, by doing stretching exercises, which help maintain muscle strength and stop the process of joint stiffness.
- Providing equipment to help the child move, such as a wheelchair.
- Insertion of a splint or brace for the arms or legs.
- Orthotics using shoe inserts that make the child walk better.
- Treating spinal problems, such as curvature of the spine, by wearing a back brace to help the spine grow properly, or by performing surgery to straighten it.
Complications of spinal muscular atrophy in children
Depending on the type and severity of the atrophy, the child may develop some complications, including:
- Inhalation of liquids or small pieces of food and their entry into the airway.
- Contraction and constriction of muscles and tendons.
- The curvature of the spine.
- breathing difficulties.