The symptoms are sparked by a loss of nerve cells in thespinal cordandbrain stem.
It is a progressive motor neuron disease.
SMA has several types, all due to the same genetic change and protein deficiency.
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but with differing ages of onset and symptoms.
New treatments are offering hope of altering the progress of SMA.
However, the severity of the effects varies based on the SMA jot down that a person has.
Verywell / Lara Antal
What Causes SMA?
All types of SMA have the same cause.
They are triggered by a genetic defect in the SMN1 gene (encoding survival motor neuron protein).
There is another gene, SMN2, that also codes for the SMN protein.
People have several copies of the SMN2 gene, but the number varies.
How Is SMA Diagnosed?
The diagnosis of SMA is confirmed withgenetic testing.
Spinal Muscular Atrophy Treatment
Treatment for SMA has been substantially changed within the past decade.
New disease-modifying treatments can impact the disease process.
Additionally, therapies and interventions that help alleviate complications are also a necessary part of treatment.
The day-to-day care is guided by each persons level of abilities and their need for support.
If you have SMA, you might need assistance with grooming, bathing, or using the toilet.
A person with SMA should give a shot to be as active as possible to help maintain muscle function.
People with types 3 or 4 SMA may have a normal life expectancy.
Those with bang out 2 have a variable outlook, but most live into their 20s or 30s.
SMA Support
Awareness of SMA has been increasing.
Groups you might consider reaching out to includeCure SMA,Muscular Dystrophy Association, andSMA Foundation.
National Institute of Neurological Disorders and Stroke.Spinal muscular atrophy.
Johns Hopkins Medicine.Spinal muscular atrophy.
mySMAteam.SMA newborn screening: your guide.
