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What is spinal muscular atrophy (sma)?

Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord.  These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs.  As the neurons die, the muscles weaken. This can affect walking, crawling, breathing, swallowing, and head and neck control. 


SMA runs in families.  Parents usually have no symptoms, but still carry the gene.  


There are many types of SMA.  Some of them are fatal.  Some people have a normal life expectancy.  It depends on the type and how it affects breathing.  There is no cure.  Treatments help with symptoms and prevent complications.  This may include machines to help with breathing, nutritional support, physical therapy, and medicines.


Source: NIH: National Institute of Neurological Disorders and Stroke

what does this mean for kris & Kyle?

Kris and Kyle both have SMA type II.  This means that they were diagnosed as toddlers and have seen a loss of muscle control in their legs, arms and even neck muscles over the years.  Kyle can move his thumb, which helps him control his wheelchair.  However, his neck muscles do not have the strength to allow him to hold his head up on his own.  Kris still has some mobility in his right arm allowing him to operate a computer mouse.  With the mouse he can work in photoshop for his graphic design company, write e-mails, and compose text messages.  Kyle uses voice recognition software to turn his spoken words into documents, e-mails, and text messages.  

what is muscular dystrophy (MD)?

The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement.  Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later.  The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.


Source: NIH: National Institute of Neurological Disorders and Stroke


Muscular Dystrophy Association

Fight SMA

(Great list of organizations)

SMA Foundation

Cure SMA

(Formerly Families of SMA

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