What is spinal muscular atrophy?
What are its types and symptoms?
Is there a cure for the disease?
What is Duchenne muscular dystrophy?
Spinal Muscular Atrophy
Spinal muscular atrophy - also known as spinal muscular atrophy (SMA) is a genetic genetic disease that makes muscles weak, causes movement problems, and the disease worsens with time, and there is no current treatment for the disease, but there are treatments that help the patient deal With symptoms and improving his life, according to the National Health Service Wales.
The disease does not affect the child's intelligence or ability to learn.
Causes of spinal muscular atrophy
People with SMA lose a specific type of nerve cell in the spinal cord called "motor neurons" that control muscle movement.
Without these motor neurons, the muscles don't receive the nerve signals that make the muscles move.
Over time, some muscles become smaller and weaker due to lack of use, according to the Cleveland Clinic.
A person with SMA inherits two copies of the defective (mutated) gene for SMN1 motor neurons.
One defective gene comes from the mother and the other from the father.
An adult can have one copy of the defective gene that causes SMA and not know it, and they are called a carrier.
A carrier is a person who has one healthy SMN1 gene and another missing or defective SMN1 gene.
Pregnant women do not develop spinal muscular atrophy.
If both parents are carriers of the disease gene, there is a 25% chance that the child will be born with it, a 50% chance that the child will carry the gene only, without the disease, and a 25% chance that the child will not carry the gene at all.
Symptoms of spinal muscular atrophy
Weakness or looseness of the legs and arms.
Movement problems such as walking or sitting.
Muscle twitching.
Bone and joint problems.
Swallowing difficulties.
breathing difficulties;
Types of spinal muscular atrophy
There are several types of spinal muscular atrophy that begin at different ages, including:
Spinal Muscular Atrophy Type I
It affects young infants, and symptoms appear during the first 6 months of life, and they have severe weakness in the arms and legs, and difficulties in movement, eating, breathing and swallowing, and the child cannot raise his head or sit.
Usually people with this type die in the early years, as a result of breathing problems.
Spinal Muscular Atrophy Type II
In this type, symptoms appear on affected children at the age of 7 months and 18 months, and are less severe than the first type, and include the following:
The child is able to sit without assistance, but not be able to stand or walk.
Weakness in arms and legs.
Tremor in fingers and hands.
Later, joint problems develop, such as curvature of the spine (scoliosis).
Weak breathing muscles and difficulty coughing, which can put them at risk of respiratory infections.
This type may shorten life expectancy, but most affected children live to adulthood and can live long lives.
Spinal muscular atrophy type III
Symptoms usually appear after 18 months of age, but sometimes they may not appear until late childhood or early adulthood.
Symptoms of spinal muscular atrophy type III include:
The patient is able to stand and walk without assistance, but he may find it difficult to walk or get up from a sitting position.
Balance problems or difficulty running.
Slight tremors in the fingers.
Walking may become more difficult over time, and the patient may lose the ability to walk as he grows.
The third type does not usually affect life expectancy.
Spinal muscular atrophy type IV
It affects adults, usually begins in early adulthood, and symptoms include:
Weakness in the hands and feet.
difficulty walking
Muscle tremors and tremors.
Type IV worsens slowly over time, but does not cause breathing or swallowing problems, and does not affect life expectancy.
Are there cases cured of muscular dystrophy?
Currently there is no cure for spinal muscular atrophy, but research is still ongoing.
As researchers learn more about gene modification and other approaches to address the genetic causes behind SMA, things are likely to change quickly, according to a report in Healthline.
Is muscular dystrophy fatal?
The prognosis varies with the form and type of spinal muscular atrophy;
Some forms are fatal if not treated.
The patient may appear stable for long periods, but improvement should not be expected without treatment.
Some children with SMA die in infancy, while others can live into adolescence or adulthood.
For children with type 1 SMA;
Most die within the first two years.
For children with SMA type 2, the prognosis is roughly related to their age when symptoms first begin, as older children tend to have less severe symptoms.
Life expectancy is declining but some individuals live into their teens or young adults.
Spinal Muscular Atrophy Treatment
As mentioned, there is no cure for spinal muscular atrophy, but there is a drug "Zolgensma", which does not cure the disease but helps stop its progression, according to a report in the British newspaper "The Guardian".
The drug Zolgensma is manufactured by the company "Novartis", and it is the most expensive drug in the world, according to a report in the French newspaper "Luton" (letemps).
Zolgensma was approved for production in the United States in 2019, and the following year it was approved in the European Union and Switzerland, and has already saved the lives of 18,000 children through research programs and clinical trials.
Subsequently, 100 doses were given free of charge in 2020, and more were given in 2021 to patients who would otherwise not have been able to pay for treatment, given that the treatment requires only one dose for the patient.
According to a report in Forbes magazine, the price of a single dose of Zolgensma is $2.1 million.
Tools that help patients with spinal muscular atrophy
If the child has difficulty feeding or swallowing, a feeding tube may be used.
Breathing exercises to strengthen the breathing muscles and make coughing easier.
A suction device to help clear the throat. This involves passing a thin, plastic tube into the back of the throat to suck up any mucus.
In severe cases, a device is used to provide air through a mask or tube.
Vaccination against influenza and pneumonia to reduce the risk of respiratory infections.
Use of mobility equipment to aid movement.
Do exercises to help strengthen muscles and prevent joints from stiffening.
Some children with curvature of the spine may need a brace to support the back and encourage proper spinal development, and may also undergo spinal surgery to straighten it.
Duchenne muscular dystrophy
A genetic disease that leads to muscle atrophy rapidly, and it is one of the rare diseases, as it affects one in every 3600 male births, and does not affect females, and patients usually die at the age of 25.
Duchenne muscular dystrophy belongs to a group of genetic diseases that affect muscles, called muscular dystrophy or muscular dystrophy, and include:
1- Becker muscular dystrophy
2- Emery-Dreifuss muscular dystrophy
3- Facioscapulohumeral muscular dystrophy
The disease occurs as a result of the presence of a problematic gene in the patient, which leads to accelerated muscle weakness.
The disease affects only males, while females carry it only and do not show symptoms (carriers).
For females who carry the disease genes, their male children have a 50% risk of developing the disease, and for females, they have a 50% risk.
Duchenne muscular dystrophy symptoms
Symptoms begin to appear before the child reaches 6 years of age, and sometimes before, and include:
Learning difficulties.
Intellectual disability.
exhaustion.
Muscle weakness involving the legs, arms, and other areas of the body.
As a result of muscle weakness, the child faces difficulties in running, jumping and motor activities, as well as frequent falls.
Difficulties walking, as a child may start using a wheelchair before he reaches 12 years old.
Before the age of twenty, breathing difficulties and heart problems begin to appear.
Duchenne muscular dystrophy complications
Myocardial insufficiency.
Pulmonary infections.
Disability and inability of a person to take care of himself.
mental problems;
Respiratory failure.
People with the disease usually die at the age of 25, as a result of lung disease.