Hello, we evolve the community. I’m reaching out in the hopes that we can all band together to support this young child who is fighting SMA (Spinal Muscular Atrophy).
What is the atrophy of the spinal muscles?
A hereditary condition known as spinal muscular atrophy (SMA) affects the peripheral nervous system, the brain, and voluntary muscle movement (skeletal muscle).
The word spinal appears in the disease name because the majority of the nerve cells that govern muscles are found in the spinal cord. SMA is referred to as muscular because muscles, which don’t receive signals from these nerve cells, are the main target of its effects. When muscles aren’t stimulated by nerve cells, they typically atrophy, which is the medical name for shrinking.
SMA is a motor neuron disease that results in the degeneration of nerve cells termed motor neurons in the spinal cord.
The age of start, symptoms, and rate of development vary greatly in the most prevalent kind of SMA (chromosome 5 SMA, or SMN-related SMA). SMA associated with chromosome 5 that is frequently autosomal recessive is divided into kinds 1 through 4 to account for these variations.
The degree of motor function impairment is generally correlated with the age at which SMA symptoms first appear: The influence on motor function increases with the age of onset. The least functionally capable children are often those who exhibit symptoms from birth or in infancy (type 1). Higher levels of motor function are typically associated with SMA types 2 and 3, as well as type 4 in adults or teens, which develop later and have a less severe trajectory.
What causes SMA?
SMA on chromosome 5 is brought on by a lack of the motor neuron protein SMN, which stands for “survival of motor neuron.” As its name suggests, this protein appears to be required for healthy motor neuron function. SMN is essential for the motor neurons’ ability to express their genes. Its lack is brought on by mutations in the SMN1 gene, which is located on chromosome 5. Patients with SMA who have the exon 7.1 deletion in the SMN1 gene as their most prevalent mutation are known as exon 7.1 deletions. Since SMN1 and SMN2 genes are 99% identical, nearby SMN2 genes can partially make up for SMN1 genes that are dysfunctional. 2
Mehramat’s Story :
I WAS BORN WITHOUT A GENE …. PLEASE HELP ME GET ONE*
I am Mehramat Kaur, 15 month old.
I have been diagnosed with SMA (SPINAL MUSCULAR ATROPHY). A rare genetic disorder, that is killing my motor nuerons. I wish to stand on my own feet and play like other kids around me but I cannot, because they have something that I DON’T
THAT IS SMN1 GENE.
For me to have a normal life, I need a one-time gene therapy infusion of ZOLGENSMA which cost $2.1 million (INR 17.5 crore). This treatment can only be given before it turns 2, time is running fast. please support.
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