The Child Killer – Spinal Muscular Atrophy (SMA)
By The Ray Of Hope For Spinal Muscular Atrophy Patients
Thanks to my Brother-in-law “Rosh” who took a moment to share a post about a kid who is suffering from Spinal Muscular Atrophy (SMA). I was not aware of SMA until I saw that post.
The Facebook post was about the new medicine which has been identified for curing Spinal Muscular Atrophy. The post had the text content and a photograph of Mr. Praveen Tiyagi, the father of the suffering kid. It was painful. But, the father had showcased humanity and his willpower by sharing the valuable information even at his harrowing times.
How many of us will be in a position to share any information about a disease when our own blood relatives are suffering?
He took the path of Facebook to share the news about the new medicine for this genetic disease. The disease which was considered non-curable until a few months back.
Lucky I am, as I got an opportunity to share about it in my blog so that it reaches more and more people in the world.
The Genetic Disease – Spinal Muscular Atrophy
Image Credit: Pixabay
Spinal Muscular Atrophy is a genetic disease.
A neuromuscular disorder that affects the motor nerve cells in the spinal cord. The affected motor nerve cells cause muscle weakness followed by muscle death. Yes, the death of the muscles that help us to Crawl, Stand, Sit, Walk, and also to control the movements of the human head. The progressive weakening and wastage of muscles lead to death.
Image Credit: Bone and Spine
This disease that gets passed down to the child from the parent is considered as Number ONE genetic cause in infants and toddlers death.
This disease is not a gender biased and it is applicable even for adults.
Why Is SMA Not Found During Prenatal Screenings?
This disease does not provide many clues during the screening that happens when the child is in the womb. But, there are cases where families with a history of at least one child with this disorder requesting prenatal predictions for their child. When identified a risk of the disorder, they took a decision of terminating the pregnancy.
The prenatal diagnosis for SMA is done in the couples with high risk by detection of a homozygous deletion in the survival motor neuron gene (SMN1).
What Is Survival Motor Neuron Gene 1 (SMN1)?
- It is the gene that determines Spinal Muscular Atrophy.
- In human, this gene takes care of producing the protein named SMN1. The gene protein that is required for the proper functioning of nerves that controls the body muscles.
- Lack of this protein leads to the progressive degeneration of the motor nerve cells in the spinal cord. That leads to weak muscles, in turn, Spinal Muscular Atrophy.
Types Of Spinal Muscular Atrophy Disease
SMA0 (Prenatal)/SMA1 (Infantile):
The SMA1 type occurs in the babies who are born weak.
This type is considered as the most severe form of Spinal Muscular Atrophy.
The survival duration of the infant with this type of Spinal Muscular Atrophy is just a few weeks to months even with respiratory support.
The other name of SMA1 is “Werdnig-Hoffman disease”.
The Signs
– Adoption of a frog-leg position when sitting etc.
SMA2 (intermediate SMA):
Also called as Dubowitz disease. Noticed when the kid is between 7 and 18 months of age.
The Signs
– Delay in sitting
– Distortion of the hands, feet, and chest etc.
SMA3 (Juvenile):
Also known as Kugelberg Welander disease. Noticed and diagnosed in children above 12 months old.
The Signs
– Difficulty walking/climbing up and down the stairs
– Nil to minimal body balance
– Weak legs than the arms
– Restricted movement of joins around hips, knees, and ankles
SMA4:
Another name of SMA4 is adult-onset SMA. Noticed at the start of adulthood. They may be able to walk but sometimes will need wheelchair help.
The Signs
– Tremors
– Twitching of tongue
– Curved spine
– Weak hips, thighs, shoulders, and legs
- The symptoms or the signs of each type of the Spinal Muscular Atrophy disease varies.
- None of the patients with SMA1,2,3,&4 seem to have issues with their intelligence.
- Hydrotherapy, Physiotherapy and occupational therapy are beneficial to SMA patients.
The SMA Risk Probability & Statistics
In India, as of 2015, MDCRC has identified 400+ cases of SMA.
Statistics show that 1 in every 6,000 to 10,000 people suffer from Spinal Muscular Atrophy in the United States Of America.
1 in 40 individuals carries SMA without any clues.
Countries With National SMA Registry
Image Credit: treat-nmd.eu
The Drug
The drug “Spinraza” was approved in the year 2016. A drug released by the pharma named Biogen/Ionis. The same drug has been already subjected to clinical trials showing positive impacts.
For more information on the drugs, please refer to updated SMA Drug Pipeline Release from the link in the reference section.
Be The Change
- There is a petition online from change.org to the below team seeking help to get the SMA medicine to India at an affordable cost.
– Ministry of Finance, India
– Prime Minister of India
– Minister of External Affairs
– Minister of Health and Family Welfare
I had signed this petition for the betterment of people, why can’t you?
Here is the link to the petition.
Note:
Support Links:
SMA Drug Updates
https://curesma.org/
Thanks for this extremely informative article on this lesser-known disease, SMA. But is this curable? is the Spinraza really effective?
Nice to know about spinraza and I hope it is successful in saving lots of lives. I also hope governments provide strong subsidies or take other measures to bring the cost down because at current list price, this is completely unaffordable to common patients.