“Spinal Muscular Atrophy Awareness Month”
Spinal muscular atrophy (SMA) is a genetic (inherited) neuromuscular disease that causes muscles to become weak and waste away. 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, muscles don’t receive nerve signals that make muscles move. The word atrophy is a medical term that means smaller. With SMA, certain muscles become smaller and weaker due to lack of use. Spinal muscular atrophy (SMA) is disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, and impacting their ability to walk, eat, and breathe.
The four main types of SMA
Spinal muscular atrophy Type 1 is the most severe, and symptoms appear very early in life. Children with this type of SMA are not able to sit unaided and, without intervention, rarely survive their second birthday.
SMA Type 2 starts to manifest itself in the first year or so. It is a condition that causes serious physical disability, and children with that cannot stand without help. Improvements in understanding and care have led to a situation where most people with SMA type 2 can expect to have a productive and fulfilling life, even though the condition may shorten life expectancy.
SMA Type 3 starts to show symptoms in early childhood, and is less disabling than spinal muscular atrophy types 1 and 2. Children diagnosed with this type of SMA find their ability to walk decreasing with time, but they have normal life expectancy.
SMA Type 4 develops in adulthood, and it is not life-threatening.
How is spinal muscular atrophy diagnosed?
Some SMA symptoms resemble those resulting from neuromuscular disorders like muscular dystrophy. To find the cause of symptoms, your healthcare provider will perform a physical exam and get a medical history. Your physician may also order one or more of these tests to diagnose SMA:
Blood test: An enzyme and protein blood test can check for high levels of creatine kinase. Deteriorating muscles release this enzyme into the bloodstream.
Genetic test: This blood test identifies problems with the SMN1 gene. As a diagnostic tool, a genetic test is 95% effective at finding the altered SMN1 gene. Some states test for SMA as part of routine newborn screenings.
Nerve conduction test: An electromyogram (EMG) measures the electrical activity of nerves muscles and nerves.
Muscle biopsy: Rarely, a physician may perform a muscle biopsy. This procedure involves removing a small amount of muscle tissue and sending it to a lab for examination. A biopsy can show atrophy, or loss of muscle.
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