Spinal Muscular Atrophy and Top 10 Expensive Drugs
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| Spinal Muscular Atrophy" SMA" in 1980, the early nineties of the nineteenth century. Both the Austrian doctor "Guido Warding" and the German doctor "John Hoffmann" revealed a disorder that leads to a gradual weakness in muscles that begins in childhood and leads to early death through " Warding- Hoffman syndrome" and was later known as Spinal Muscular Atrophy "SMA" As a result of the loss of motor neurons, then the brain stops sending messages that control muscle movement. This disease usually affects infants and children, and then the child’s muscles weaken and contract, which leads to difficulty in moving the head, sitting without support, and walking as well, and he may have difficulty swallowing and breathing with the exacerbation of the disease It is a condition that worsens over time. Symptoms of spinal muscular atrophyThe severity of the symptoms and the beginning of their first appearance vary according to the type of spinal muscular atrophy the child has, but the symptoms, in general, are as follows:
Spinal muscular atrophy (SMA) does not affect intelligence and does not cause learning difficulties. Types of spinal muscular atrophytype 0:This is the rarest and most dangerous type of spinal muscular atrophy. It appears on the fetus before birth and develops during pregnancy. The affected fetuses show less movement in the womb and as a result, they are often born with joint deformities. Muscle weakness and breathing muscles often die because of breathing problems. Type I:It is the most common type and also severe in its symptoms, which begin to appear during the first months of the beginning of life. Children with this type of sitting or controlling their head movements without assistance, and also suffer from difficulty swallowing, which leads to developmental problems, and the danger is In weak muscles that control breathing, most children with type 2 SMA do not survive after the age of two due to breathing problems. Type 2:It affects children between the ages of 6-18 months, and symptoms range from moderate to severe, and usually affects the legs more than the arms. The child with this type is able to sit, walk or stand with help. They often have involuntary trembling in their fingers and a curvature in the Spine This type is also called as the chronic infantile type. Type 3:Symptoms of this type begin to appear among children from the age of 2-17 years, and it is the mildest case of spinal muscular atrophy. turn around later in life. Type4:The fourth type of spinal muscular atrophy is a rare type and begins to appear at the beginning of puberty. Some symptoms may appear, such as muscle weakness, tingling, or breathing problems. Usually, only the upper part of the legs and arms are affected. Causes of spinal muscular atrophyAs mentioned above, spinal muscular atrophy is a genetic disease that is transmitted through families. If the child has spinal muscular atrophy, this means that he received two copies of a (broken) gene with defects from both parents, one from the father and the other from the mother, and this gene In its healthy, defect-free state, is responsible for the formation of the protein needed to build the motor neuron. When this happens, the genetic transfer of this broken gene from the parents to the child is unable to form this protein, and in its absence the cells that control the muscles die. How SMA is inheritedIn most cases, a child cannot be born with SMA unless both parents carry a defective gene that causes this condition. 40-60 people will be carriers of the disease, and if two parents are carriers of the disease (the defective gene), the chances are as follows:
In some rare types of SMA, it is not transmitted at all and is inherited in a slightly different way.
Spinal muscular atrophy rateatrophy affects one person in every 8000-1000 people from all over the world, and the first type of spinal muscular atrophy represents half of the cases, as it is the most common type. The second and third types are the next most common types, while the injury is rare. with type 0 and type 4. Diagnosing spinal muscular atrophy SMAcan be difficult to diagnose because its symptoms are similar to other conditions. To help figure out what's going on, your doctor may ask:
Some of the tests that the doctor may order will help in making the diagnosis, for example, taking a blood sample to check for the presence of broken genes that may cause muscle atrophy. The doctor can also order a blood test to check the level of the enzyme (KC) that leaks from the weak muscles may not be Elevated blood is often harmful, but its presence gives evidence of possible muscle damage. There are other diagnostic tests that rule out, through their results, cases with similar symptoms to spinal muscular atrophy as follows:
Treatment of spinal muscular atrophyThe US Food and Drug Administration has approved 3 drugs for the treatment of spinal muscular atrophy:
and each of the three drugs is a form of gene therapy that affects the gene's Participation in spinal muscular atrophy and makes the genes responsible for protein synthesis SMN1 & SMN2 able to instruct the body to make the protein needed to control muscle movement and it is called SMN.
The cost of spinal muscular atrophy treatmentThe drug used in the treatment of spinal muscular atrophy is among The 10 most expensive drugs in the world, given that it is the only approved gene therapy for this disease, which costs 2.125 million dollars per person, and it is important to realize that it is a one-time treatment whose cost may increase annually by hundreds of thousands of dollars and the patient needs this drug constantly and often for many years. References. years//medlineplus.gov/genetics/condition/spinal-muscular-atrophy/ https://www.webmd.com/brain/spinal-muscular-atrophy https://www.nhs.uk/conditions/sp inal-muscular-atrophy-sma/ https://www.healthline.com/health/spinal-muscular-atrophy/what-is-sma-infusion-therapy Written by: Dr. Amira Saleh |
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